Background: GATA2-related myelodysplastic syndrome (GATA2-MDS) is a unique predisposition syndrome with a high risk of leukemic transformation. This systematic review synthesizes current literature and presents two illustrative pediatric GATA2-MDS cases. Methods: Data retrieval from eight cohort and case–control studies provides comprehensive analysis on disease features, diagnostic complexities, management, and outcomes related to hematopoietic stem cell transplantation (HSCT) in GATA2-related myeloid malignancies. Additionally, two pediatric cases are included to exemplify clinical and therapeutic challenges in real-world setting. Results: The literature data demonstrates high incidence of monosomy 7, and recurrent infections as the most common clinical feature, followed by immunodeficiency and lymphedema. Prognosis clearly worsens with age and HSCT remains the only curative treatment. GATA2 patients undergoing HSCT experience high rates of graft versus host disease (GvHD) as well as unique neurological, thrombotic, and infectious complications. Transplant-related mortality (TRM) is linked to GvHD and infections. Post-transplant cyclophosphamide (PT/Cy) strategies seem to improve survival by reducing GvHD incidence. Overall survival (OS) remains variable across groups. The first case presents rapid disease progression to pulmonary alveolar proteinosis (PAP) and leukemic transformation, further developing severe HSCT complications. The second case addresses novel GATA2 mutation and raises concerns regarding alternative prophylactic and therapeutic strategies in transplant setting. Conclusions: Collaborative efforts aim to enhance understandings of GATA2-related myeloid malignancies and guide towards more effective management approaches.

Background and Objectives: Due to the progress made in all areas of research, pediatric patients diagnosed with acute lymphoblastic leukemia (ALL) now have an average overall survival rate of 90%. There are still discrepancies between high-income countries and limited-resource centers. The aim of this study was to analyze prognostic factors and outcome parameters in a 223-patient cohort from a single center in Romania, treated with two adapted BFM protocols. Materials and Methods: The patients diagnosed with ALL in our center were enrolled in this study from January 2016 to December 2022 and subsequently followed up until December 2024. The patients were treated first according to the ALL IC BFM 2009 protocol until June 2019 and afterwards with the ALL AIEOP BFM 2017 protocol starting with July 2019. The prognostic factors were analyzed in both subgroups and the outcomes were measured: event-free survival (EFS), overall survival (OS), cumulative incidence of relapse (CIR), relapse-free survival (RFS) and non-relapse mortality (NRM). Results: The comparison between the two subgroups revealed that every parameter improved over time: complete remission after induction (87.75% vs. 80.7%), early deaths (3.92% vs. 5.78%), deaths in remission (4.08% vs. 5.26%), 5-year EFS (73.79% vs. 70.22%), 5-year CIR (18.36% vs. 19.04%), 5-year RFS (81.76% vs. 80.97%), 5-year NRM (7.85% vs. 10.77%), and 5-year OS (88.18% vs. 82.54%). Whereas for the standard-risk group, events such as relapse or death were isolated, for intermediate-risk patients, the events were limited to a small number and did not significantly influence the overall results, and for high-risk children, the results improved significantly between the two subgroups. The worst outcomes were observed in patients with the BCR::ABL1 fusion gene, T-cell phenotype, and in teenagers, compared to the ETV6::RUNX1 fusion gene, B precursor ALL, and in smaller children, respectively. Conclusions: The 5-year OS increased in our center from 82.54% to almost 90%, with the most substantial finding being the survival rate for high-risk patients, now reaching up to 80%. The prognostic factors were age at diagnosis, genetic characteristics, and response to treatment, especially prednisone sensibility.

Background: MYH9-related disease (MYH9-RD) is the most common form of inherited thrombocytopenia (IT). It is caused by pathogenic variants in the MYH9 gene. It manifests as early-onset macrothrombocytopenia with variable later-onset extra-hematological features, including hearing loss, renal disease, and cataracts. In pediatric patients, early recognition is critical to avoid misdiagnosis as immune thrombocytopenia (ITP) and unnecessary immunosuppressive therapy. Methods: We conducted a retrospective unicentric study at the Pediatric Oncology and Hematology Department, Fundeni Clinical Institute, Bucharest, Romania, including patients aged 0–18 years with suspected IT, tested between 2017 and 2025 by next-generation sequencing (NGS). Clinical, laboratory, and genetic data were reviewed. Results: Among 66 patients who underwent genetic testing, 31 (48.5%) had IT-associated genetic variants; 8 (25.8%) carried MYH9 mutations. Four patients (50%) had disease onset before age 1 year, three with neonatal presentation; 3 (37.5%) reported a family history of thrombocytopenia. Six variants were previously reported, and two were novel variants. Five variants (62.5%) were pathogenic, while three (37.5%) were initially classified as variants of uncertain significance (VUS). Most mutations were missense in the coiled-coil tail domain, correlating with milder thrombocytopenia and absence of extra-hematological features. No life-threatening bleeding was recorded; hemorrhagic symptoms were limited to minor mucocutaneous bleeding. Conclusions: This is the first Romanian pediatric cohort and one of the few existing pediatric cohorts describing the genetic and clinical spectrum of MYH9-RD. Early genetic confirmation enables precise diagnosis, tailored management, and family screening, while preventing inappropriate therapies.

Background: Malnutrition, encompassing both undernutrition and overnutrition, is a common complication in children with cancer and is associated with impaired treatment tolerance, increased infection risk, altered pharmacokinetics, reduced quality of life, and poorer survival outcomes. Despite its importance, nutritional management in pediatric oncology lacks a unified, systematically organized clinical framework applicable to the full trajectory of the disease. Objective: This study aimed to develop expert consensus recommendations for nutritional intervention in pediatric oncology patients aged 4 to 18 years. Methods: A modified electronic Delphi (e-Delphi) process was conducted with a multidisciplinary expert panel of 22 specialists, including pediatric oncologists, pediatric gastroenterologists, clinical nutrition specialists, radiotherapy specialists, and pediatric surgeons. Statements were rated on a 9-point Likert scale across two anonymous rounds, with consensus predefined as ≥80% agreement. Results: Forty-one consensus recommendations were formulated across nine domains: nutritional screening and assessment, energy and protein requirements, micronutrient supplementation, physical activity, nutritional support escalation, refeeding syndrome prevention, treatment-specific management, survivorship, and palliative care. All recommendations achieved the predefined consensus threshold. Conclusions: This Delphi consensus provides a structured, multidisciplinary, and clinically actionable framework for nutritional management across the full trajectory of childhood cancer and is intended to reduce institutional variability and improve patient outcomes.

Background/Objectives: Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a rare but life-threatening thrombotic microangiopathy in children. Secondary forms, occurring in association with immune dysregulation, autoimmune disease, or other triggers, are particularly challenging to diagnose and manage, and pediatric-specific data remain limited. This study aimed to describe the clinical characteristics, diagnostic pathways, and management of pediatric iTTP and to contextualize these findings within the recent literature. Methods: We conducted a retrospective case series of pediatric patients diagnosed with iTTP at a tertiary referral center, between November 2021 and January 2026. Clinical presentation, laboratory findings, including ADAMTS13 activity and ADAMTS13 inhibitors, associated conditions, treatment strategies, and outcomes were reviewed. In parallel, a narrative literature review was performed focusing on pediatric immune-mediated secondary TTP published over the past five years. Results: Four pediatric patients (three females, one male; median age 14 years) met inclusion criteria. All presented with severe thrombocytopenia and microangiopathic hemolytic anemia, accompanied by prominent neurologic manifestations in three cases. Severe ADAMTS13 activity deficiency (≤10%) with positive inhibitors was documented in all patients. Secondary iTTP occurred in association with evolving systemic autoimmunity, systemic lupus erythematosus, common variable immunodeficiency, or without an identifiable trigger at presentation. High clinical probability scores facilitated early diagnosis. Management required plasma exchange, corticosteroids, and targeted and immunomodulatory therapy. Conclusions: Pediatric secondary iTTP is a heterogeneous condition that frequently presents with diagnostic ambiguity and severe neurologic involvement. Early recognition, prompt initiation of TTP-directed therapy, and comprehensive immunologic evaluation are critical for favorable outcomes. Case series combined with narrative reviews remain valuable for advancing understanding and optimizing individualized care in this rare pediatric disorder.

Intestinal microbiome dysbiosis has been associated with transplant-related mortality and graft-versus-host disease in allo-HSCT patients. We assessed how pre-transplant antibiotic and antineoplastic exposures, together with multidrug-resistant colonization, are associated with baseline gut microbiome diversity at allo-HSCT. We conducted a prospective, single-center cohort study at Fundeni Clinical Institute (Bucharest, Romania) between August 2024 and June 2025, enrolling 52 allo-HSCT recipients and 27 healthy controls. Fecal samples were collected before conditioning. Gut microbiome composition was assessed via 16S rRNA gene sequencing and analyzed using QIIME2 and R. Associations were evaluated using Wilcoxon test, multivariable linear regression, and PERMANOVA. Shannon diversity was significantly lower in patients (median 4.71, IQR 3.97–5.44) than in healthy controls (median 6.09, IQR 5.87–6.28; p < 0.001). In bivariate analyses, carbapenem (p adj = 0.02) and oxazolidinone exposure (p adj = 0.005) were associated with reduced diversity, while immunotherapy was associated with higher diversity (p adj = 0.042). Broad-spectrum penicillin (p adj = 0.062) and ESBL colonization (p adj = 0.066) did not reach significance. In the multivariable antibiotic model, although the overall model was statistically significant (model p = 0.039), no individual antibiotic class remained significantly associated with Shannon diversity after adjustment for co-exposures. Beta diversity differed modestly with carbapenem exposure (R² = 0.033, p = 0.019). Pre-transplant antibiotic exposures were associated with lower gut microbiome diversity at allo-HSCT admission, with patterns consistent with a cumulative rather than a class-specific association. These findings support antibiotic stewardship in pre-transplant care.