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Dr. Calogero Virgone
Pediatric Surgery, Department of Women's and Children's Health, University-Hospital of Padua. Via Giustiniani 3, 35128 Padua, Italy.

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0 neuroblastoma
0 Pediatric oncologic surgery
0 Rare solid tumors
0 Gonadal tumors
0 Adrenocortical tumors

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Adrenocortical tumors

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Supplement article
Published: 26 June 2021 in Pediatric Blood & Cancer
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Adrenocortical tumours (ACTs) are rare during childhood. A complete surgical resection provides the best chance of cure, but the role and efficacy of the adjuvant therapy are still controversial. Various histologic criteria of malignancy for ACTs adopted in children do not facilitate comparative studies and are not completely shared. Therefore, a sharp demarcation between benign and malignant lesions has not been recognised, making it difficult to identify who potentially needs perioperative therapy. This manuscript presents the internationally harmonised recommendations for the diagnosis and treatment of ACTs in children and adolescents, established by the European Cooperative Study Group for Paediatric Rare Tumours (EXPeRT) group within the EU-funded project PARTNER (Paediatric Rare Tumours Network - European Registry).

ACS Style

Calogero Virgone; Jelena Roganovic; Peter Vorwerk; Antje Redlich; Dominik T. Schneider; Dragana Janic; Ewa Bien; Ricardo López‐Almaraz; Jan Godzinski; Gustaf Osterlundh; Teresa Stachowicz‐Stencel; Laurence Brugières; Ines B. Brecht; Cécile Thomas‐Teinturier; Brice Fresneau; Aurore Surun; Andrea Ferrari; Gianni Bisogno; Daniel Orbach. Adrenocortical tumours in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatric Blood & Cancer 2021, 68, e29025 .

AMA Style

Calogero Virgone, Jelena Roganovic, Peter Vorwerk, Antje Redlich, Dominik T. Schneider, Dragana Janic, Ewa Bien, Ricardo López‐Almaraz, Jan Godzinski, Gustaf Osterlundh, Teresa Stachowicz‐Stencel, Laurence Brugières, Ines B. Brecht, Cécile Thomas‐Teinturier, Brice Fresneau, Aurore Surun, Andrea Ferrari, Gianni Bisogno, Daniel Orbach. Adrenocortical tumours in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatric Blood & Cancer. 2021; 68 (S4):e29025.

Chicago/Turabian Style

Calogero Virgone; Jelena Roganovic; Peter Vorwerk; Antje Redlich; Dominik T. Schneider; Dragana Janic; Ewa Bien; Ricardo López‐Almaraz; Jan Godzinski; Gustaf Osterlundh; Teresa Stachowicz‐Stencel; Laurence Brugières; Ines B. Brecht; Cécile Thomas‐Teinturier; Brice Fresneau; Aurore Surun; Andrea Ferrari; Gianni Bisogno; Daniel Orbach. 2021. "Adrenocortical tumours in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations." Pediatric Blood & Cancer 68, no. S4: e29025.

Supplement article
Published: 26 June 2021 in Pediatric Blood & Cancer
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Pancreatoblastoma (PBL) is a rare malignant epithelial neoplasm that affects typically young children. Signs related to advanced upper-abdominal tumor accompanied by elevated serum α-fetoprotein levels in a young child suggest PBL, however histopathological confirmation is mandatory. The mainstay of the treatment is a complete surgical resection. Unresectable and/or metastatic PBL may become amenable to complete delayed surgery after neoadjuvant chemotherapy. This manuscript presents the international consensus recommendations for the diagnosis and treatment of children with PBL, established by the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) within the EU-funded PARTNER (Paediatric Rare Tumors Network – European Registry) project.

ACS Style

Ewa Bien; Jelena Roganovic; Malgorzata A. Krawczyk; Jan Godzinski; Daniel Orbach; Giovanni Cecchetto; Winfred Barthlen; Anne‐Sophie Defachelles; Andrea Ferrari; Christopher B. Weldon; Ines B. Brecht; Dominik T. Schneider; Gianni Bisogno; Alexandra Kolenova; Tal Ben‐Ami; Kata Martinova; Calogero Virgone; Teresa Stachowicz‐Stencel; Denis Kachanov; Yves Reguerre. Pancreatoblastoma in children: EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatric Blood & Cancer 2021, 68, e29112 .

AMA Style

Ewa Bien, Jelena Roganovic, Malgorzata A. Krawczyk, Jan Godzinski, Daniel Orbach, Giovanni Cecchetto, Winfred Barthlen, Anne‐Sophie Defachelles, Andrea Ferrari, Christopher B. Weldon, Ines B. Brecht, Dominik T. Schneider, Gianni Bisogno, Alexandra Kolenova, Tal Ben‐Ami, Kata Martinova, Calogero Virgone, Teresa Stachowicz‐Stencel, Denis Kachanov, Yves Reguerre. Pancreatoblastoma in children: EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatric Blood & Cancer. 2021; 68 (S4):e29112.

Chicago/Turabian Style

Ewa Bien; Jelena Roganovic; Malgorzata A. Krawczyk; Jan Godzinski; Daniel Orbach; Giovanni Cecchetto; Winfred Barthlen; Anne‐Sophie Defachelles; Andrea Ferrari; Christopher B. Weldon; Ines B. Brecht; Dominik T. Schneider; Gianni Bisogno; Alexandra Kolenova; Tal Ben‐Ami; Kata Martinova; Calogero Virgone; Teresa Stachowicz‐Stencel; Denis Kachanov; Yves Reguerre. 2021. "Pancreatoblastoma in children: EXPeRT/PARTNER diagnostic and therapeutic recommendations." Pediatric Blood & Cancer 68, no. S4: e29112.

Supplement article
Published: 26 June 2021 in Pediatric Blood & Cancer
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It has become increasingly clear in recent years that we need to develop ad hoc strategies to combat very rare tumors (VRT) of pediatric age. In 2008, several schemes being run in different countries were pooled together to create the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) project: a cooperative study group that aimed to promote research in the relatively uncharted territory of rare tumors of pediatric age. EXPeRT members were able to activate different levels of cooperation to achieve their goals, and to obtain dedicated funding by participating in EU-financed projects. Their experiences emphasize the merits of networking, seeking new partnerships, joining forces, and pooling resources to extend the reach of research efforts, and ultimately improve the quality of patient care. Between 2018 and 2021, the EXPeRT has been active in establishing the Pediatric Rare Tumors Network - European Registry (PARTNER). This project had the main purposes of building a European common registry of pediatric VRT, but also the major task of developing diagnostic and treatment guidelines for VRT (or at least part of them). These clinical recommendations are the subject of a series of papers on Pediatric Blood and Cancer.

ACS Style

Andrea Ferrari; Dominik T. Schneider; Gianni Bisogno; Yves Reguerre; Jan Godzinski; Ewa Bien; Teresa Stachowicz‐Stencel; Giovanni Cecchetto; Bernadette Brennan; Jelena Roganovic; Tal Ben‐Ami; Calogero Virgone; Nuno Reis Farinha; Serena Mancini; Daniel Orbach; Ines B. Brecht. Facing the challenges of very rare tumors of pediatric age: The European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) background, goals, and achievements. Pediatric Blood & Cancer 2021, 68, e28993 .

AMA Style

Andrea Ferrari, Dominik T. Schneider, Gianni Bisogno, Yves Reguerre, Jan Godzinski, Ewa Bien, Teresa Stachowicz‐Stencel, Giovanni Cecchetto, Bernadette Brennan, Jelena Roganovic, Tal Ben‐Ami, Calogero Virgone, Nuno Reis Farinha, Serena Mancini, Daniel Orbach, Ines B. Brecht. Facing the challenges of very rare tumors of pediatric age: The European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) background, goals, and achievements. Pediatric Blood & Cancer. 2021; 68 (S4):e28993.

Chicago/Turabian Style

Andrea Ferrari; Dominik T. Schneider; Gianni Bisogno; Yves Reguerre; Jan Godzinski; Ewa Bien; Teresa Stachowicz‐Stencel; Giovanni Cecchetto; Bernadette Brennan; Jelena Roganovic; Tal Ben‐Ami; Calogero Virgone; Nuno Reis Farinha; Serena Mancini; Daniel Orbach; Ines B. Brecht. 2021. "Facing the challenges of very rare tumors of pediatric age: The European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) background, goals, and achievements." Pediatric Blood & Cancer 68, no. S4: e28993.

Supplement article
Published: 21 April 2021 in Pediatric Blood & Cancer
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Thymic tumors are epithelial tumors arising from the anterior mediastinum and constitute 0.2–1.5% of all adult malignancies but are exceptional in pediatric population. Thymic epithelial tumors (TETs) encompass a variety of histologic subtypes associated with different clinical outcomes. Due to its rarity in children, TETs’ management requires a multidisciplinary approach. However, prognosis remains still poor, especially among patients with thymic carcinoma. This study presents the internationally recognized recommendations for the diagnosis and treatment of thymic tumors in children and adolescents, established by the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) group within the EU‐funded project Paediatric Rare Tumours Network ‐ European Registry (PARTNER).

ACS Style

Teresa Stachowicz‐Stencel; Anna Synakiewicz; Marianna Cornet; Andrea Ferrari; Marina Garassino; Jordi Remon Masip; Rod Julien; Calogero Virgone; Dominik T. Schneider; Ines B. Brecht; Tal Ben‐Ami; Ewa Bien; Yves Reguerre; Jan Godzinski; Gianni Bisogno; Daniel Orbach; Sabine Sarnacki. Thymoma and thymic carcinoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatric Blood & Cancer 2021, 68, e29042 .

AMA Style

Teresa Stachowicz‐Stencel, Anna Synakiewicz, Marianna Cornet, Andrea Ferrari, Marina Garassino, Jordi Remon Masip, Rod Julien, Calogero Virgone, Dominik T. Schneider, Ines B. Brecht, Tal Ben‐Ami, Ewa Bien, Yves Reguerre, Jan Godzinski, Gianni Bisogno, Daniel Orbach, Sabine Sarnacki. Thymoma and thymic carcinoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations. Pediatric Blood & Cancer. 2021; 68 (S4):e29042.

Chicago/Turabian Style

Teresa Stachowicz‐Stencel; Anna Synakiewicz; Marianna Cornet; Andrea Ferrari; Marina Garassino; Jordi Remon Masip; Rod Julien; Calogero Virgone; Dominik T. Schneider; Ines B. Brecht; Tal Ben‐Ami; Ewa Bien; Yves Reguerre; Jan Godzinski; Gianni Bisogno; Daniel Orbach; Sabine Sarnacki. 2021. "Thymoma and thymic carcinoma in children and adolescents: The EXPeRT/PARTNER diagnostic and therapeutic recommendations." Pediatric Blood & Cancer 68, no. S4: e29042.

Case report
Published: 20 April 2021 in Journal of Pediatric Surgery Case Reports
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The MicroWave Ablation (MWA) is a mini-invasive technique, based on dielectric heating, used to treat small hepatic tumors or liver metastases in the adult population. The heat-energy is delivered to the target area, causing tumor necrosis, usually under ultrasound or computed tomography guidance. This procedure can be performed as pure percutaneous or with laparoscopic assistance. A laparoscopic US-guided microwave ablation of the pancreatoblastoma hepatic metastasis was performed in an 11-year old girl. A standard three-port laparoscopic technique was used: the camera port at the umbilicus, and two working port at the upper right quadrant. After adhesiolysis, the intra-operative liver ultrasonography confirmed the pre-operative morphological imaging study and the nodules ablation was performed by using microwaves (MWA), emitted by AMICA probe (Apparatus for MICrowave Ablation; HS Hospital Service, Aprilia, LT, Italy), set at 40 W. Laparoscopic MWA is a tissue-sparing technique to treat in a mini-invasive fashion unresectable liver tumors or metastases. This technique has been extensively described in adult population, and rarely in children. These preliminary and satisfactory results make MWA promising when treating pediatric patients with malignant primary or secondary liver tumors. Further studies may provide data on its long-term efficacy and safety.

ACS Style

Elena Borghi; Costanza Tognon; Andrea Marchini; Calogero Virgone; Umberto Cillo; Piergiorgio Gamba. Videolaparoscopic MicroWave Ablation: An innovative technique to treat pancreatoblastoma liver metastases in children. Journal of Pediatric Surgery Case Reports 2021, 69, 101876 .

AMA Style

Elena Borghi, Costanza Tognon, Andrea Marchini, Calogero Virgone, Umberto Cillo, Piergiorgio Gamba. Videolaparoscopic MicroWave Ablation: An innovative technique to treat pancreatoblastoma liver metastases in children. Journal of Pediatric Surgery Case Reports. 2021; 69 ():101876.

Chicago/Turabian Style

Elena Borghi; Costanza Tognon; Andrea Marchini; Calogero Virgone; Umberto Cillo; Piergiorgio Gamba. 2021. "Videolaparoscopic MicroWave Ablation: An innovative technique to treat pancreatoblastoma liver metastases in children." Journal of Pediatric Surgery Case Reports 69, no. : 101876.

Journal article
Published: 01 February 2021 in Pediatric Blood & Cancer
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Background Extra‐appendicular neuroendocrine tumors (NETs) are very rare tumors. While diagnostic and therapeutic guidelines are well established for adults, data on children and adolescents are lacking. Patients and Methods Patients with a diagnosis of extra‐appendicular NET registered on the Tumori Rari in Età Pediatrica ‐ Rare Tumors in Pediatric Age (TREP) from 2000 to 2020 were analyzed. Clinical characteristics including patients’ presentation, tumor features, treatment, and outcome were reviewed. Results Twenty‐seven patients with extra‐appendicular NET registered on TREP with a median age of 173 months. The primary site was the pancreas (12) or bronchi (10) in the majority of cases. Other primary sites included the thymus, Meckel's diverticulum, and liver. Thirteen (48%) of tumors extended beyond the organ of origin: four invaded neighboring organs and/or regional nodes and nine involved distant metastases. The 3‐year event‐free survival (EFS) for those with localized disease was superior to those with metastatic disease (66.6% 95% CI 5‐95% vs 33% 95% CI 5‐68%, respectively; P = .005). A complete resection was feasible in 17 patients. The 3‐year EFS in these patients was superior to those with no or incomplete resection (R0 vs R1/R2, respectively; P = .007). Overall, 16 children had no evidence of disease at follow‐up, and one is alive with disease; five died, and five were lost to follow‐up. Conclusions Data from our experience demonstrated a wide heterogeneity of presentation and outcome of these tumors. Localized disease and complete surgical resection were the main prognostic factors of good outcome. Other therapies may have a role in prolonging survival in metastatic disease.

ACS Style

Calogero Virgone; Andrea Ferrari; Stefano Chiaravalli; Maria Debora De Pasquale; Alessandro Inserra; Paolo D'Angelo; Martina Funmilayo Ogunleye; Alessandro Crocoli; Stefano Vallero; Simone Cesaro; Rita Alaggio; Gianni Bisogno; Patrizia Dall'Igna. Extra‐appendicular neuroendocrine tumors: A report from the TREP project (2000‐2020). Pediatric Blood & Cancer 2021, 68, e28880 .

AMA Style

Calogero Virgone, Andrea Ferrari, Stefano Chiaravalli, Maria Debora De Pasquale, Alessandro Inserra, Paolo D'Angelo, Martina Funmilayo Ogunleye, Alessandro Crocoli, Stefano Vallero, Simone Cesaro, Rita Alaggio, Gianni Bisogno, Patrizia Dall'Igna. Extra‐appendicular neuroendocrine tumors: A report from the TREP project (2000‐2020). Pediatric Blood & Cancer. 2021; 68 (4):e28880.

Chicago/Turabian Style

Calogero Virgone; Andrea Ferrari; Stefano Chiaravalli; Maria Debora De Pasquale; Alessandro Inserra; Paolo D'Angelo; Martina Funmilayo Ogunleye; Alessandro Crocoli; Stefano Vallero; Simone Cesaro; Rita Alaggio; Gianni Bisogno; Patrizia Dall'Igna. 2021. "Extra‐appendicular neuroendocrine tumors: A report from the TREP project (2000‐2020)." Pediatric Blood & Cancer 68, no. 4: e28880.

Journal article
Published: 04 January 2021 in Children
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Gastrostomy placement is crucial in neurologically impaired (NI) children to ensure an adequate food intake and a safe route for drugs administration and to reduce the risk of primary aspiration. NI patents are more prone to gastroesophageal reflux. The association with fundoplication is deemed to reduce reflux-related respiratory complications. However, long-term benefits of this approach are not clear. We therefore aimed to compare long-term reflux-related respiratory complications of gastrostomy only (GO) to gastrostomy with fundoplication (GF). We retrospectively reviewed 145 consecutive NI children managed from 2008 to 2018. As long-term outcomes, we analyzed number and length of hospital admissions (Reflux-Related-Hospitalization, RRH) and emergency department accesses (Reflux-Related-Accesses, RRA) due to respiratory problems. Results were analyzed with appropriate statistical method. Median age at referral and at gastrostomy placement were 2.2 and 3.4 years (SD 5.6), respectively. Median follow-up was four years (range 1–12). Anti-reflux procedures were performed in 26/145 patients (18%); tracheotomy in 23/145 (16%). RRH following surgery showed lower number of admissions/year (0.32 vs. 1 for GO vs. GF, p < 0.005) and days hospitalization/year (3 vs. 13, p = 0.08) in GO compared to GF; RRA was similar (0.60 vs. 0.65, p = 0.43). Gastrostomy placement alone appeared not to be inferior to gastrostomy plus fundoplication with respect to long-term respiratory-related outcomes for NI children in our center.

ACS Style

Elisa Zambaiti; Calogero Virgone; Silvia Bisoffi; Roberta Stefanizzi; Francesco Fascetti Leon; Piergiorgio Gamba. Long-Term Analysis of Respiratory-Related Complications Following Gastrostomy Placement with or without Fundoplication in Neurologically Impaired Children: A Retrospective Cohort Study. Children 2021, 8, 22 .

AMA Style

Elisa Zambaiti, Calogero Virgone, Silvia Bisoffi, Roberta Stefanizzi, Francesco Fascetti Leon, Piergiorgio Gamba. Long-Term Analysis of Respiratory-Related Complications Following Gastrostomy Placement with or without Fundoplication in Neurologically Impaired Children: A Retrospective Cohort Study. Children. 2021; 8 (1):22.

Chicago/Turabian Style

Elisa Zambaiti; Calogero Virgone; Silvia Bisoffi; Roberta Stefanizzi; Francesco Fascetti Leon; Piergiorgio Gamba. 2021. "Long-Term Analysis of Respiratory-Related Complications Following Gastrostomy Placement with or without Fundoplication in Neurologically Impaired Children: A Retrospective Cohort Study." Children 8, no. 1: 22.

Original article
Published: 14 December 2020 in Journal of Pediatric Hematology/Oncology
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Pancreatoblastoma (PB) is a tumor typically seen in childhood. Despite its rarity, there are some internationally agreed recommendations for its first-line treatment, but very little is known about the management of relapse. We reviewed the literature on the treatment and outcome of children with progressing/recurrent PB, and the role of high-dose chemotherapy (HD-CT) or liver transplantation in difficult cases. A first analysis concerned 15 patients: liver metastases were the most frequent cause of first-line treatment failure. Eight patients underwent surgery, only 3 were irradiated. Various second-line chemotherapy regimens were adopted, with evidence of response in 8 children. The most often-used combinations included etoposide, cyclophosphamide/ifosfamide, and cisplatin/carboplatin. Overall, 7 patients are alive with a median follow-up of 24 months (range, 3 to 88 mo). In a separate analysis, considering patients in first-line or second-line treatment, we found 5 of 6 patients alive after HD-CT and 3 of 3 after liver transplantation. Our review shows that the outcome for patients with recurrent PB is not always dismal, especially when surgery is possible. Different chemotherapy combinations can be used, and HD-CT or liver transplantation may be considered in selected cases.

ACS Style

Giulia Reggiani; Maria C. Affinita; Patrizia Dall’Igna; Calogero Virgone; Silvia Sorbara; Gianni Bisogno. Treatment Strategies for Children With Relapsed Pancreatoblastoma. Journal of Pediatric Hematology/Oncology 2020, Publish Ah, 1 .

AMA Style

Giulia Reggiani, Maria C. Affinita, Patrizia Dall’Igna, Calogero Virgone, Silvia Sorbara, Gianni Bisogno. Treatment Strategies for Children With Relapsed Pancreatoblastoma. Journal of Pediatric Hematology/Oncology. 2020; Publish Ah ():1.

Chicago/Turabian Style

Giulia Reggiani; Maria C. Affinita; Patrizia Dall’Igna; Calogero Virgone; Silvia Sorbara; Gianni Bisogno. 2020. "Treatment Strategies for Children With Relapsed Pancreatoblastoma." Journal of Pediatric Hematology/Oncology Publish Ah, no. : 1.

Review
Published: 11 December 2020 in Pediatric Blood & Cancer
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Pediatric adrenocortical tumors (ACT) are rare and sometimes aggressive malignancies, but there is no consensus on the outcome predictors in children. A systematic search of MEDLINE, SCOPUS, Web of Science, and the Cochrane Library for studies from 1994 to 2020 about pediatric ACT was performed. In 42 studies, 1006 patients, aged 0‐18 years, were included. The meta‐analyses resulted in the following predictors of better outcome: age <4 years (P < .00001), nonsecreting tumors (P = .004), complete surgical resection (P < .00001), tumor volume (P < .0001), tumor weight (P < .00001), tumor maximum diameter (P = .0009), and Stage I disease (P < .00001). Moreover, patients affected by Cushing syndrome showed a worse outcome (P < .0001). International prospective studies should be implemented to standardize clinical prognostic factors evaluation, together with pathological scores, in the stratification of pediatric ACT.

ACS Style

Elisa Zambaiti; Miriam Duci; Federica De Corti; Piergiorgio Gamba; Patrizia Dall'igna; Filippo Ghidini; Calogero Virgone. Clinical prognostic factors in pediatric adrenocortical tumors: A meta‐analysis. Pediatric Blood & Cancer 2020, 68, e28836 .

AMA Style

Elisa Zambaiti, Miriam Duci, Federica De Corti, Piergiorgio Gamba, Patrizia Dall'igna, Filippo Ghidini, Calogero Virgone. Clinical prognostic factors in pediatric adrenocortical tumors: A meta‐analysis. Pediatric Blood & Cancer. 2020; 68 (3):e28836.

Chicago/Turabian Style

Elisa Zambaiti; Miriam Duci; Federica De Corti; Piergiorgio Gamba; Patrizia Dall'igna; Filippo Ghidini; Calogero Virgone. 2020. "Clinical prognostic factors in pediatric adrenocortical tumors: A meta‐analysis." Pediatric Blood & Cancer 68, no. 3: e28836.

Original article
Published: 23 November 2020 in European Journal of Pediatrics
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The diagnosis of balanitis xerotica obliterans (BXO) in children may be challenging, since clinical examination only could lead to an underestimation of its incidence. The aim of this retrospective and single-centre study is to assess the diagnostic performance of clinical examination, together with clinical history, in identifying BXO. Ninety-seven children underwent circumcision for phimosis from 2015 to 2019. Histology was routinely performed. Cohen’s kappa coefficient, sensitivity, specificity, predictive values, likelihood ratios and accuracy of macroscopic appearance of the foreskin, steroid administration and past medical history were estimated. Forty-eight patients (50%) were affected by BXO; 31 of them (69%) presented with suggestive clinical signs. A strictured or whitish urethral meatus was detected during surgery in nine cases (19%); this was associated to allergic or immune diseases (p = 0.046). Foreskin appearance alone mildly correlated with histology (k = 0.494; p < 0.001) and it showed a diagnostic accuracy of 75%. The specificity and positive predictive value of abnormal macroscopic findings at examination, together with a positive clinical history for other allergic or immune diseases, and/or for balanitis, were 100% and the positive likelihood ratio was greater than 10. Conversely, sensitivity decreased to 4.5% (95% CI 0–11%). Conclusion: Foreskin appearance together with clinical history could predict BXO with certainty. However, since the absence of a positive medical history could not exclude the diagnosis, foreskin histology is still highly recommended. What is Known: • Occurrence of balanitis xerotica obliterans may be underestimated in children and it could lead to long-term complications. • The diagnostic accuracy of clinical examination is controversial. What is New: • Clinical signs together with patients’ medical history present high specificity and positive predictive values but low sensitivity. • When suggestive clinical aspects are present, patient should be referred to surgery avoiding prolonged conservative treatment; and preputial histology is highly recommended.

ACS Style

Filippo Ghidini; Calogero Virgone; Rebecca Pulvirenti; Emanuele Trovalusci; Piergiorgio Gamba. Could a careful clinical examination distinguish physiologic phimosis from balanitis xerotica obliterans in children? European Journal of Pediatrics 2020, 180, 591 -595.

AMA Style

Filippo Ghidini, Calogero Virgone, Rebecca Pulvirenti, Emanuele Trovalusci, Piergiorgio Gamba. Could a careful clinical examination distinguish physiologic phimosis from balanitis xerotica obliterans in children? European Journal of Pediatrics. 2020; 180 (2):591-595.

Chicago/Turabian Style

Filippo Ghidini; Calogero Virgone; Rebecca Pulvirenti; Emanuele Trovalusci; Piergiorgio Gamba. 2020. "Could a careful clinical examination distinguish physiologic phimosis from balanitis xerotica obliterans in children?" European Journal of Pediatrics 180, no. 2: 591-595.

Journal article
Published: 10 October 2020 in European Journal of Cancer
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Introduction Very little is known about the characteristics of mesothelial tumours in the paediatric population. In adults with malignant mesothelioma, the pemetrexed-based regimen with cytoreductive surgery (CRS) is a standard of care in limited tumours, but long-term survival is uncommon. Material and methods The European Cooperative Study Group on Pediatric Rare Tumors (EXPeRT) retrospectively reviewed children, adolescents and young adults (≤21 year) diagnosed with mesothelial tumours treated between 1987 and 2018. Results Thirty-three patients were identified, 15 male and 18 female patients. One patient's exposure to asbestos was documented. Primary tumour was mainly in the peritoneum (23 patients). Histology was multicystic mesothelioma of the peritoneum (MCM) (six patients) or malignant mesothelioma (MM) (27 patients). Among MM, the first-line treatment comprised preoperative chemotherapy (14 cases), surgery only (three cases), chemotherapy only (five cases), adjuvant chemotherapy (three cases) or palliative treatment (two cases). The response rate to cisplatin–pemetrexed was 50% (6/12 cases). CRS with hyperthermic intraperitoneal chemotherapy (CRS-HIPEC) was performed in 19 patients (upfront in three, after neoadjuvant therapy in 12, or after tumour progression in six patients, including three twice). After a median follow-up of 6.7 years (range, 0–20), five-year overall and event-free survivals were 82.3% (95% CI, confidential interval ((CI), 67.8–99.9) and 45.1% (95% CI, 28.4–71.7), respectively. All patients with MCM are alive after surgery (five patients) and CRS-HIPEC (one patient). Conclusions Paediatric mesothelioma is exceptional and seems to be different from its adult counterpart with few asbestos exposures, more peritoneal primary, and a better outcome. The cisplatin–pemetrexed regimen showed promising efficacy. Relapses could be salvaged with active therapy including CRS-HIPEC.

ACS Style

Daniel Orbach; Nicolas André; Ines B. Brecht; Ricardo López Almaraz; Tal Ben-Ami; Sophie Vermersch; Matthieu Carton; Calogero Virgone; Gianni Bisogno; Dominik T. Schneider; Viera Bajciova; Yves Reguerre; Françoise Galateau-Salle; Teresa Stachowicz-Stencel; Rina Dvir; Helen Rees; Ewa Bien; Andrea Ferrari; Myriam Ben Arush. Mesothelioma in children and adolescents: the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) contribution. European Journal of Cancer 2020, 140, 63 -70.

AMA Style

Daniel Orbach, Nicolas André, Ines B. Brecht, Ricardo López Almaraz, Tal Ben-Ami, Sophie Vermersch, Matthieu Carton, Calogero Virgone, Gianni Bisogno, Dominik T. Schneider, Viera Bajciova, Yves Reguerre, Françoise Galateau-Salle, Teresa Stachowicz-Stencel, Rina Dvir, Helen Rees, Ewa Bien, Andrea Ferrari, Myriam Ben Arush. Mesothelioma in children and adolescents: the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) contribution. European Journal of Cancer. 2020; 140 ():63-70.

Chicago/Turabian Style

Daniel Orbach; Nicolas André; Ines B. Brecht; Ricardo López Almaraz; Tal Ben-Ami; Sophie Vermersch; Matthieu Carton; Calogero Virgone; Gianni Bisogno; Dominik T. Schneider; Viera Bajciova; Yves Reguerre; Françoise Galateau-Salle; Teresa Stachowicz-Stencel; Rina Dvir; Helen Rees; Ewa Bien; Andrea Ferrari; Myriam Ben Arush. 2020. "Mesothelioma in children and adolescents: the European Cooperative Study Group for Pediatric Rare Tumors (EXPeRT) contribution." European Journal of Cancer 140, no. : 63-70.

Journal article
Published: 31 July 2020 in Journal of Pediatric and Adolescent Gynecology
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ACS Style

Marina Andreetta; Patrizia Dall’Igna; Federica De Corti; Piergiorgio Gamba; Calogero Virgone. Metachronous Contralateral Cystadenoma After Ovariectomy for Juvenile Granulosa Cell Tumor in a Young Girl: An Uncommon Association. Journal of Pediatric and Adolescent Gynecology 2020, 34, 103 -105.

AMA Style

Marina Andreetta, Patrizia Dall’Igna, Federica De Corti, Piergiorgio Gamba, Calogero Virgone. Metachronous Contralateral Cystadenoma After Ovariectomy for Juvenile Granulosa Cell Tumor in a Young Girl: An Uncommon Association. Journal of Pediatric and Adolescent Gynecology. 2020; 34 (1):103-105.

Chicago/Turabian Style

Marina Andreetta; Patrizia Dall’Igna; Federica De Corti; Piergiorgio Gamba; Calogero Virgone. 2020. "Metachronous Contralateral Cystadenoma After Ovariectomy for Juvenile Granulosa Cell Tumor in a Young Girl: An Uncommon Association." Journal of Pediatric and Adolescent Gynecology 34, no. 1: 103-105.

Journal article
Published: 03 June 2020 in Pediatric Blood & Cancer
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Background Pheochromocytomas (PCs) are neuroendocrine tumors arising from the chromaffin cells of the adrenal gland, and paragangliomas (PGLs) are their extra‐adrenal counterparts arising from ganglia along the sympathetic/parasympathetic chain. Surgery is the cornerstone of treatment. A sporatic or inherited germline mutation is commonly associated. Materials and methods Among over 1000 patients registered into the Tumori Rari in Età Pediatrica—rare tumors in pediatric age project—from 2000 to 2019, 50 were affected by PC/PGL. All clinical and therapeutic data were evaluated. Results Twenty‐eight patients had PC and 22 had PGL. Age at diagnosis ranged between 5 and 17 years. Thirty‐five patients had symptoms related to catecholamine hypersecretion; in 7 of 50 patients, diagnosis was incidental or done during assessment of a familial syndrome. In all cases, conventional imaging was effective to assess the presence of a tumor. In addition, 18 of 38 functional imaging studies were positive (61%). Forty‐eight patients were eligible for surgery: a complete resection was more frequently achieved in PC than in PGL (26/28 vs 11/22). All relapses were treated with surgery alone, surgery plus medical treatment, or chemotherapy alone; one PC with metastasis at diagnosis received radiotherapy only. Forty‐four patients were in the first, second, or third complete remission (10/50 recurred; 8/10 carried a germline mutation). Five of 50 patients were alive with disease. One patient died of disease. Conclusions Surgery can be curative in most tumors but it may not be always effective in removing PGLs. Severe postsurgical sequelae may affect these patients. Genetic tests should always be considered in individuals affected, and genetic counseling should be offered to their families.

ACS Style

Calogero Virgone; Marina Andreetta; Stefano Avanzini; Stefano Chiaravalli; Maria Debora De Pasquale; Alessandro Crocoli; Alessandro Inserra; Paolo D'angelo; Rita Alaggio; Giuseppe Opocher; Giovanni Cecchetto; Andrea Ferrari; Gianni Bisogno; Patrizia Dall'igna. Pheochromocytomas and paragangliomas in children: Data from the Italian Cooperative Study (TREP). Pediatric Blood & Cancer 2020, 67, 1 .

AMA Style

Calogero Virgone, Marina Andreetta, Stefano Avanzini, Stefano Chiaravalli, Maria Debora De Pasquale, Alessandro Crocoli, Alessandro Inserra, Paolo D'angelo, Rita Alaggio, Giuseppe Opocher, Giovanni Cecchetto, Andrea Ferrari, Gianni Bisogno, Patrizia Dall'igna. Pheochromocytomas and paragangliomas in children: Data from the Italian Cooperative Study (TREP). Pediatric Blood & Cancer. 2020; 67 (8):1.

Chicago/Turabian Style

Calogero Virgone; Marina Andreetta; Stefano Avanzini; Stefano Chiaravalli; Maria Debora De Pasquale; Alessandro Crocoli; Alessandro Inserra; Paolo D'angelo; Rita Alaggio; Giuseppe Opocher; Giovanni Cecchetto; Andrea Ferrari; Gianni Bisogno; Patrizia Dall'igna. 2020. "Pheochromocytomas and paragangliomas in children: Data from the Italian Cooperative Study (TREP)." Pediatric Blood & Cancer 67, no. 8: 1.

Case report
Published: 16 May 2020 in Journal of Pediatric Surgery Case Reports
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This particular case highlights the importance of a multidisciplinary team expertise in the differential diagnostic process of acute abdominal pain. The case involves a 10-year old Chinese boy who presented with intermittent abdominal pain; the clinical and radiologic picture narrowed the differential diagnosis between an acute appendicitis and an intestinal lymphoma. Diagnosis of a high grade - B lymphoma was made by performing a colonoscopy; this procedure was deemed the best option to obtain a quick diagnosis with low invasiveness.

ACS Style

Giulia Brooks; Marina Andreetta; Francesco Fascetti Leon; Guendalina Mognato; Calogero Virgone; Monica Zuliani; Alberto Fantin; Marta Pillon; Luisa Santoro; Piergiorgio Gamba; Patrizia Dall’Igna. Multidisciplinary expertise in the diagnosis of cecal lymphoma. Journal of Pediatric Surgery Case Reports 2020, 59, 101489 .

AMA Style

Giulia Brooks, Marina Andreetta, Francesco Fascetti Leon, Guendalina Mognato, Calogero Virgone, Monica Zuliani, Alberto Fantin, Marta Pillon, Luisa Santoro, Piergiorgio Gamba, Patrizia Dall’Igna. Multidisciplinary expertise in the diagnosis of cecal lymphoma. Journal of Pediatric Surgery Case Reports. 2020; 59 ():101489.

Chicago/Turabian Style

Giulia Brooks; Marina Andreetta; Francesco Fascetti Leon; Guendalina Mognato; Calogero Virgone; Monica Zuliani; Alberto Fantin; Marta Pillon; Luisa Santoro; Piergiorgio Gamba; Patrizia Dall’Igna. 2020. "Multidisciplinary expertise in the diagnosis of cecal lymphoma." Journal of Pediatric Surgery Case Reports 59, no. : 101489.

Case report
Published: 01 May 2020 in Journal of Pediatric Surgery Case Reports
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Disorders of sex development represent a large and heterogeneous group of diseases that have an important impact on physical and mental well-being of patients and their families. An early diagnosis and a multidisciplinary approach are fundamental to guarantee the highest standard of care.

ACS Style

Giulia Mottadelli; Elisa Zambaiti; Laura Guazzarotti; Calogero Virgone; Piergiorgio Gamba. Newborn with incarcerated inguinal hernia and complete androgen insensitivity syndrome. Journal of Pediatric Surgery Case Reports 2020, 58, 101476 .

AMA Style

Giulia Mottadelli, Elisa Zambaiti, Laura Guazzarotti, Calogero Virgone, Piergiorgio Gamba. Newborn with incarcerated inguinal hernia and complete androgen insensitivity syndrome. Journal of Pediatric Surgery Case Reports. 2020; 58 ():101476.

Chicago/Turabian Style

Giulia Mottadelli; Elisa Zambaiti; Laura Guazzarotti; Calogero Virgone; Piergiorgio Gamba. 2020. "Newborn with incarcerated inguinal hernia and complete androgen insensitivity syndrome." Journal of Pediatric Surgery Case Reports 58, no. : 101476.

Original article
Published: 01 January 2020 in African Journal of Paediatric Surgery
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Context: The circumcision is the most frequent procedure in paediatric surgery worldwide, performed for medical and ritual purposes. In developing countries, because of the difficult accessibility to healthcare, even a common procedure could be unsafe. Aims: The aim of the article is to compare the perioperative and anaesthesiological management of circumcision in children between two Italian and two sub-Saharan African hospitals. Materials and Methods: Medical records of paediatric circumcision from January 2014 to December 2016 have been reviewed. The involved hospitals were: Padua (Italy), Ferrara (Italy), Sao José em Bor (Guinea Bissau) and Yaoundé (Cameroun). Results: In Padua, 77 circumcisions were performed, 19 of these (24.6%) were ritual. In 75 children (97.4%), locoregional anaesthesia (LRA) together with sedation was used; only one complication (1.3%) occurred. In Ferrara, 200 interventions were done, 140 (70%) ritual; general anaesthesia was administered to 183 (93.5%) patients. There were five complications (2.5%). In Bissau, 53 procedures were performed, 21 (39.6%) ritual; in 34 children (64.1%), LRA with sedation was preferred. Two complications (3.8%) were reported. In Yaoundé, 60 children were circumcised, 15 (25%) for ritual purposes; in 51 (85%), only LRA was performed; there was only one (1.7%) complication. In the African hospital, no post-operative analgesia was administered. Conclusion: Despite the different anaesthesiological techniques, the study shows no difference in rate of complications for the in-hospital setting. Training of the local medical team in pain management and post-operative care should be emphasised.

ACS Style

Filippo Ghidini; Calogero Virgone; Bernadette Metangmo Madounkeng; Andrea Franchella; Milo Vason; Dionisio Cumba; Costanza Tognon; Piergiorgio Gamba. Perioperative management of circumcision in children: Is there a difference between African and European hospitals? African Journal of Paediatric Surgery 2020, 17, 90 -94.

AMA Style

Filippo Ghidini, Calogero Virgone, Bernadette Metangmo Madounkeng, Andrea Franchella, Milo Vason, Dionisio Cumba, Costanza Tognon, Piergiorgio Gamba. Perioperative management of circumcision in children: Is there a difference between African and European hospitals? African Journal of Paediatric Surgery. 2020; 17 (3):90-94.

Chicago/Turabian Style

Filippo Ghidini; Calogero Virgone; Bernadette Metangmo Madounkeng; Andrea Franchella; Milo Vason; Dionisio Cumba; Costanza Tognon; Piergiorgio Gamba. 2020. "Perioperative management of circumcision in children: Is there a difference between African and European hospitals?" African Journal of Paediatric Surgery 17, no. 3: 90-94.

Original report
Published: 15 May 2019 in The Laryngoscope
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Objective Primary tracheobronchial tumors (PTTs) are rare heterogeneous lesions arising from any part of the tracheobronchial tree. Nonspecific symptoms may lead to delayed diagnosis that requires more aggressive surgical treatment. An analysis of cases collected by the International Network of Pediatric Airway Team was undertaken to ensure proper insight into the behavior and management of PTTs. Methods Patients <18 years of age with a histological confirmation of PTT diagnosed from 2000 to 2015 were included in this multicenter international retrospective study. Medical records, treatment modalities, and outcomes were analyzed. The patient presentation, tumor management, and clinical course were compared between malignant and benign histotypes. Clinical and surgical variables that might influence event‐free survival were considered. Results Among the 78 children identified, PTTs were more likely to be malignant than benign; bronchial carcinoid tumor (n = 31; 40%) was the most common histological subtype, followed by inflammatory myofibroblastic tumor (n = 19; 25%) and mucoepidermoid carcinoma (n = 15; 19%). Regarding symptoms at presentation, wheezing (P = 0.001) and dyspnea (P = 0.03) were more often associated with benign growth, whereas hemoptysis was more frequently associated with malignancy (P = 0.042). Factors that significantly worsened event‐free survival were age at diagnosis earlier than 112 months (P = 0.0035) and duration of symptoms lasting more than 2 months (P = 0.0029). Conclusion The results of this international study provide important information regarding the clinical presentation, diagnostic workup, and treatment of PTTs in children, casting new light on the biological behavior of PTTs to ensure appropriate treatments. Level of Evidence NA Laryngoscope, 130:E243–E251, 2020

ACS Style

Luca Pio; Patricio Varela; Martin J. Eliott; Vincent Couloigner Md; Gabriela Guillén Burrieza; Irene Paraboschi; Calogero Virgone; Rebecca Maunsell; Victor Rachkov; Michael J. Rutter; Mariano Boglione; Jaime Penchyna Grub; Gastón Bellía Munzón; Sabine Sarnacki; Sabine Irtan; Claudia Schweiger; Michèle Larroquet; Naziha Khen Dunlop Md; Madhavan Ramaswamy; Angela Pistorio; Giovanni Cecchetto; Andrea Ferrari; Gianni Bisogno; Michele Torre. Pediatric airway tumors: A report from the International Network of Pediatric Airway Teams (INPAT). The Laryngoscope 2019, 130, E243 -E251.

AMA Style

Luca Pio, Patricio Varela, Martin J. Eliott, Vincent Couloigner Md, Gabriela Guillén Burrieza, Irene Paraboschi, Calogero Virgone, Rebecca Maunsell, Victor Rachkov, Michael J. Rutter, Mariano Boglione, Jaime Penchyna Grub, Gastón Bellía Munzón, Sabine Sarnacki, Sabine Irtan, Claudia Schweiger, Michèle Larroquet, Naziha Khen Dunlop Md, Madhavan Ramaswamy, Angela Pistorio, Giovanni Cecchetto, Andrea Ferrari, Gianni Bisogno, Michele Torre. Pediatric airway tumors: A report from the International Network of Pediatric Airway Teams (INPAT). The Laryngoscope. 2019; 130 (4):E243-E251.

Chicago/Turabian Style

Luca Pio; Patricio Varela; Martin J. Eliott; Vincent Couloigner Md; Gabriela Guillén Burrieza; Irene Paraboschi; Calogero Virgone; Rebecca Maunsell; Victor Rachkov; Michael J. Rutter; Mariano Boglione; Jaime Penchyna Grub; Gastón Bellía Munzón; Sabine Sarnacki; Sabine Irtan; Claudia Schweiger; Michèle Larroquet; Naziha Khen Dunlop Md; Madhavan Ramaswamy; Angela Pistorio; Giovanni Cecchetto; Andrea Ferrari; Gianni Bisogno; Michele Torre. 2019. "Pediatric airway tumors: A report from the International Network of Pediatric Airway Teams (INPAT)." The Laryngoscope 130, no. 4: E243-E251.

Research article
Published: 26 October 2018 in Pediatric Blood & Cancer
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1 Background Solid pseudopapillary pancreatic tumors (SPPT) are an extremely rare entity in pediatric patients. Even if the role of radical surgical resection as primary treatment is well established, data about follow‐up after pancreatic resection in children are scant. 2 Methods A retrospective review of data from the Italian Pediatric Rare Tumor Registry (TREP) was performed. Short‐term (<30 days) and long‐term complications of different surgical resections, as well as long‐term follow‐up were evaluated. 3 Results From January 2000 to present, 43 patients (male:female = 8:35) were enrolled. The median age at diagnosis was 13.2 years (range, 7–18). Nine children had an incidental diagnosis, whereas 26 complained of abdominal pain and 4 of palpable mass. Tumors arose either from the head of pancreas (n = 14) or from body/tail (n = 29): only one patient presented with metastatic disease. Resection was complete in all patients (cephalic duodenopancreatectomy vs distal resection). At follow‐up (median, 8.4 years; range, 0–17 years), one recurrence occurred in a patient with intraoperative rupture. All patients are alive. Three pancreatic fistulas occurred in the body/tail group, whereas four complications occurred in the head group (one ileal ischemia, two stenosis of the pancreatic duct, and one chylous fistula). 4 Conclusion Surgery is the best therapeutic option for these tumors; hence, complete resection is mandatory. Extensive resections, including cephalic duodenopancreatectomy, are safe when performed in specialized centers. Long‐term follow‐up should be aimed to detect tumor recurrence and to evaluate residual pancreatic function.

ACS Style

Alessandro Crocoli; Chiara Grimaldi; Calogero Virgone; Maria Debora De Pasquale; Giovanni Cecchetto; Simone Cesaro; Gianni Bisogno; Valerio Cecinati; Alessandra Narciso; Daniele Alberti; Andrea Ferrari; Patrizia Dall'igna; Marco Spada; Alessandro Inserra. Outcome after surgery for solid pseudopapillary pancreatic tumors in children: Report from the TREP project-Italian Rare Tumors Study Group. Pediatric Blood & Cancer 2018, 66, e27519 .

AMA Style

Alessandro Crocoli, Chiara Grimaldi, Calogero Virgone, Maria Debora De Pasquale, Giovanni Cecchetto, Simone Cesaro, Gianni Bisogno, Valerio Cecinati, Alessandra Narciso, Daniele Alberti, Andrea Ferrari, Patrizia Dall'igna, Marco Spada, Alessandro Inserra. Outcome after surgery for solid pseudopapillary pancreatic tumors in children: Report from the TREP project-Italian Rare Tumors Study Group. Pediatric Blood & Cancer. 2018; 66 (3):e27519.

Chicago/Turabian Style

Alessandro Crocoli; Chiara Grimaldi; Calogero Virgone; Maria Debora De Pasquale; Giovanni Cecchetto; Simone Cesaro; Gianni Bisogno; Valerio Cecinati; Alessandra Narciso; Daniele Alberti; Andrea Ferrari; Patrizia Dall'igna; Marco Spada; Alessandro Inserra. 2018. "Outcome after surgery for solid pseudopapillary pancreatic tumors in children: Report from the TREP project-Italian Rare Tumors Study Group." Pediatric Blood & Cancer 66, no. 3: e27519.

Journal article
Published: 06 April 2018 in Oncotarget
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The genetic architecture of bone and soft tissue sarcomas susceptibility is yet to be elucidated. We aimed to comprehensively collect and meta-analyze the current knowledge on genetic susceptibility in these rare tumors. We conducted a systematic review and meta-analysis of the evidence on the association between DNA variation and risk of developing sarcomas through searching PubMed, The Cochrane Library, Scopus and Web of Science databases. To evaluate result credibility, summary evidence was graded according to the Venice criteria and false positive report probability (FPRP) was calculated to further validate result noteworthiness. Integrative analysis of genetic and eQTL (expression quantitative trait locus) data was coupled with network and pathway analysis to explore the hypothesis that specific cell functions are involved in sarcoma predisposition. We retrieved 90 eligible studies comprising 47,796 subjects (cases: 14,358, 30%) and investigating 1,126 polymorphisms involving 320 distinct genes. Meta-analysis identified 55 single nucleotide polymorphisms (SNPs) significantly associated with disease risk with a high (N=9), moderate (N=38) and low (N=8) level of evidence, findings being classified as noteworthy basically only when the level of evidence was high. The estimated joint population attributable risk for three independent SNPs (rs11599754 of ZNF365/EGR2, rs231775 of CTLA4, and rs454006 of PRKCG) was 37.2%. We also identified 53 SNPs significantly associated with sarcoma risk based on single studies. Pathway analysis enabled us to propose that sarcoma predisposition might be linked especially to germline variation of genes whose products are involved in the function of the DNA repair machinery. We built the first knowledgebase on the evidence linking DNA variation to sarcomas susceptibility, which can be used to generate mechanistic hypotheses and inform future studies in this field of oncology.

ACS Style

Clara Benna; Andrea Simioni; Sandro Pasquali; Davide De Boni; Senthilkumar Rajendran; Giovanna Spiro; Chiara Colombo; Calogero Virgone; Steven G. Dubois; Alessandro Gronchi; Carlo Riccardo Rossi; Simone Mocellin. Genetic susceptibility to bone and soft tissue sarcomas: a field synopsis and meta-analysis. Oncotarget 2018, 9, 18607 -18626.

AMA Style

Clara Benna, Andrea Simioni, Sandro Pasquali, Davide De Boni, Senthilkumar Rajendran, Giovanna Spiro, Chiara Colombo, Calogero Virgone, Steven G. Dubois, Alessandro Gronchi, Carlo Riccardo Rossi, Simone Mocellin. Genetic susceptibility to bone and soft tissue sarcomas: a field synopsis and meta-analysis. Oncotarget. 2018; 9 (26):18607-18626.

Chicago/Turabian Style

Clara Benna; Andrea Simioni; Sandro Pasquali; Davide De Boni; Senthilkumar Rajendran; Giovanna Spiro; Chiara Colombo; Calogero Virgone; Steven G. Dubois; Alessandro Gronchi; Carlo Riccardo Rossi; Simone Mocellin. 2018. "Genetic susceptibility to bone and soft tissue sarcomas: a field synopsis and meta-analysis." Oncotarget 9, no. 26: 18607-18626.

Comparative study
Published: 01 October 2017 in Journal of Pediatric Surgery
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Currarino syndrome (CS) phenotype, initially described as the triad of hemisacrum, anorectal malformation (ARM) and presacral mass, can be extremely variable. The triad is often incomplete and 3 main CS phenotypical subtypes have been described: Complete, Mild and Minimal. Various associated malformations are often present. Mutations in the MNX1 gene are the main genetic background of CS, although they are not present in almost half of the cases. Aim of our study is to analyze the distribution of the 3 CS subtypes and the incidence of associated malformations in a large sample of patients and to add information about the role of the genetic testing in guiding the diagnostic and prognostic evaluation of CS patients. A multicentre retrospective data collection was performed. CS patients' phenotype was accurately analyzed according to a diagnostic-therapeutic standardized data collection sheet. The distribution of the three CS types and the frequency of each associated malformation were calculated. The phenotype of the patients with a known genetic anomaly was compared to the phenotype of the population with no genetic diagnosis, in order to determine whether the presence of a known genetic defect could correlate with a more severe CS phenotype. Data from 45 patients were analyzed. Twenty patients (44.5%) presented a Complete CS type, 19 (42.2%) a Mild CS and 6 (13.3%) a Minimal CS. In addition to the classical triad elements, 38 (84.5%) patients showed associated anomalies. The group of patients who resulted positive for a MNX1 mutation comprised a higher number (56.5%) of Complete CS cases than the group of patients that did not carry any MNX1 mutation (13%) (p = 0.0085). We could not find any relationship between CS subtype and the number of associated anomalies (p = 0.5102). The presence of a MNX1 mutation seems to correlate with a more severe CS phenotype. MNX1 seems the main responsible for the expression and the severity of the CS triad, while the associated anomalies appear to be prevalently determined by genes sited on different loci. A thorough multidisciplinary diagnostic overview of CS patients should always include genetic counseling and analysis, both in postnatal and prenatal settings. Retrospective Study. II.

ACS Style

Sara Costanzo; Luigina Spaccini; Luca Pio; Girolamo Mattioli; Calogero Virgone; Patrizia Dall'Igna; Barbara Iacobelli; Alessandro Inserra; Giulia Brisighelli; Anna Maria Fagnani; Ernesto Leva; Giulia Giannotti; Maurizio Cheli; Paolo Frumento; Giovanna Riccipetitoni. Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study. Journal of Pediatric Surgery 2017, 52, 1591 -1596.

AMA Style

Sara Costanzo, Luigina Spaccini, Luca Pio, Girolamo Mattioli, Calogero Virgone, Patrizia Dall'Igna, Barbara Iacobelli, Alessandro Inserra, Giulia Brisighelli, Anna Maria Fagnani, Ernesto Leva, Giulia Giannotti, Maurizio Cheli, Paolo Frumento, Giovanna Riccipetitoni. Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study. Journal of Pediatric Surgery. 2017; 52 (10):1591-1596.

Chicago/Turabian Style

Sara Costanzo; Luigina Spaccini; Luca Pio; Girolamo Mattioli; Calogero Virgone; Patrizia Dall'Igna; Barbara Iacobelli; Alessandro Inserra; Giulia Brisighelli; Anna Maria Fagnani; Ernesto Leva; Giulia Giannotti; Maurizio Cheli; Paolo Frumento; Giovanna Riccipetitoni. 2017. "Currarino syndrome: does the presence of a genetic anomaly correlate with a more severe phenotype? A multicentre study." Journal of Pediatric Surgery 52, no. 10: 1591-1596.