DICER1 syndrome is a pediatric cancer predisposition condition causing a variety of tumor types in children and young adults. In this report we studied a family with two relatives presenting a variety of neoplastic conditions at childhood. Germ-line mutation screening of the complete coding region of the DICER1 gene in genomic DNA from the proband was performed. The presence of somatic DICER1 mutation and further alterations in driver genes was investigated in genomic DNA obtained from available tumor samples. A nonsense germ-line mutation in DICER1 causing a truncated protein at the IIIb domain level was identified segregating within a family including two affected relatives who developed in one case cystic nephroma and pleuropulmonary blastoma, and rhabdomyosarcoma and multinodular goiter in the other. Additional in trans DICER1 missense somatic mutations in the IIIb DICER1 domain were found both in the cystic nephroma and in the rhabdomyosarcoma, suggesting that neoplasms in this family might arise from the unusual two-hit mechanism for DICER-derived tumorigenesis in which after the presence of a truncated constitutive protein, a neomorphic DICER1 activity is somatically adquired. Additional genetic alterations, such as TP53 mutations, were identified in the rhabdomyosarcoma. Besides DICER1 loss of standard activity, oncogenic cooperation of other genes, as mutated TP53, may involve developing higher grade tumors within this syndrome. Given the broad clinical spectrum that may arise, genetic counseling and close surveillance must be offered to all family members at risk of DICER1 syndrome.

We investigated the kinetics of CRP, PCT, IL-6 and MR-proADM in a cohort of consecutive febrile patients with cancer in order to test the hypothesis that higher plasma concentrations and the absence of a rapid decrease in peak values would be associated with disease severity. (1) Method: A prospective descriptive and analytical study of patients with cancer and fever (≤18 years of age) at a University Hospital was carried out between January 2018 and December 2019. Information collected: sex, age, diagnosis, date and symptoms at diagnosis and medical history. The episodes were classified into three groups: bacterial infection, non-bacterial infection and systemic inflammatory response syndrome (SIRS). (2) Results: One hundred and thirty-four episodes were included. Bacterial infection criteria were met in 38 episodes. Biomarkers were measured at four different points: baseline, at 12–24 h, at 25–48 h and at 49–72 h. All the biomarkers evaluated decreased after the peak level was reached. IL-6 and MR-proADM showed a trend towards higher levels in the SIRS group although this rise was statistically significant only for IL-6 (p < 0.005). Bacterial infections more frequently presented values of PCT above the cut-off point (>0.5 ng/mL) at 12–24 h. (3) Conclusion: In our experience, IL-6 kinetics is faster than PCT kinetics and both are faster than CRP in patients with fever and cancer who present a good outcome. Patients with a good evolution show a rapid increase and decrease of PCT and particularly of IL-6 levels.

Low-grade gliomas are the most common brain tumors in children. This tumor type presents a wide range of clinical, histological, and biological behaviors. In recent years, an association between estrogens and progesterone and the development of tumors has been suggested. A case of a 2-year-old girl is described with a low-grade brain tumor treated with chemotherapy and disease stabilization. The treatment with Decapeptyl® was initiated due to precocious puberty, and the tumor showed a decrease in its solid component—more than 50% of the initial size—three years after starting treatment. Several studies have described the influence of estrogen and progesterone on the development of gliomas, decreasing or increasing their expression in those tumors with greater aggressiveness, respectively. Despite the fact that the tumor-hormonal expression relationship in other tumor types has been evaluated, its role in the treatment of brain tumors remains unknown.

El granuloma central de células gigantes (GCCG) es una lesión ósea poco frecuente que asienta predominantemente en el hueso maxilar. Su principal tratamiento es la cirugía con márgenes amplios, por lo que en ocasiones condiciona gran morbilidad y alteraciones estéticas. Denosumab, un anticuerpo monoclonal inhibidor de RANK-ligando, se ha presentado como una alternativa terapéutica válida en el tratamiento de estas lesiones.Objetivo: describir la respuesta clínica y radiológica tras tratamiento con Denosumab en un paciente pediátrico con GCCG no resecado.Caso Clínico: adolescente de 12 años que consultó por tumefacción maxilar de 24 h de evolución, sin otra clínica asociada. A la exploración constatamos tumoración en región maxilar superior izquierda con abombamiento de encía ipsilateral. Se realizó una tomografía computarizada (TC) en la que se observó una gran lesión intraósea expansiva en borde alveolar maxilar, solicitándose posteriormente biopsia de la lesión con diagnóstico anatomopatológico de GCCG. Debido al tamaño y localización de la lesión se optó por tratamiento inicial con Denosumab. Tras 10 meses de tratamiento el paciente presentó respuesta clínica y radiológica favorable, con disminución del tamaño lesional y la actividad metabólica. Como efecto adverso asoció hipocalcemia leve, resuelta tras suplementación con calcio.Conclusión: el empleo de Denosumab como primera línea de tratamiento en Granuloma de Células Gigantes puede ser una opción terapéutica adecuada en adolescentes con lesiones difícilmente resecables.