<p>Background. Platelet-derived indices have a well-established correlation with the differential diagnosis of thrombocytopenia in adult-based research. These indices include mean platelet volume, platelet distribution width, and platelet-large cell ratio.</p><p>Objective. To determine the values of platelet-derived indices in a pediatric population with diagnoses of thrombocytopenia and their etiologic correlation.</p><p>Materials and methods. Analytic observational diagnostictest study. The population for this analytical study was pediatric patients between 6 months and 18 years of age who had thrombocytopenia (&lt;100x109/L). The study period was 18 months long.</p><p>Results. Of 54 subjects, 18 (33.3%) were diagnosed with idiopathic thrombocytopenic purpura, and 36 (66.7%) were diagnosed with acute leukemia. Mean age was 7.4 years and 6.8 years for immune thrombocytopenic purpura and acute leukemia, respectively. Mean platelet distribution width values for immune thrombocytopenic purpura and acute leukemia were 15.08 fL and 10.73, respectively. Mean MPV for immune thrombocytopenic purpura and acute leukemia was 11.7 fL and 9.8 fL, respectively. Mean platelet-large cell ratio was 38.26% and 24.97% for idiopathic thrombocytopenic purpura and acute leukemia, respectively. Differences in these three distinct platelet indices between idiopathic thrombocytopenic purpura and acute leukemia were statistically significant (p=0.00). The area under the ROC curve for platelet-derived indices showed that they were adequate for defining the causes of thrombocytopenia. MPV and platelet-large cell ratio had an area under the curve of 0.89 and 0.88, respectively, while platelet size deviation width had an area under the curve of 0.903.</p><p>Conclusions. Platelet-derived indices could be useful in the initial approach for the differential diagnosis of pediatric patients with thrombocytopenia.</p>

Los tumores del sistema nervioso central (SNC) son las neoplasias sólidas más prevalentes en pediatría. El meduloblastoma (MB) es el tumor embrionario del SNC más frecuente y corresponde aproximadamente al 20 % de los casos. Objetivo: describir la experiencia en el diagnóstico, tratamiento y resultados de los pacientes con MB en un centro de referencia en Colombia. Método: se incluyeron 38 pacientes desde enero de 2011 hasta diciembre de 2018. Resultados: los menores de 3 años recibieron tratamiento basado en el protocolo CCG9921 y los mayores de 3 años tratamiento basado en el protocolo ACNS0332. La supervivencia global a 5 años fue de 50.6 %. La supervivencia global de todo el grupo es baja comparada con países de mayores ingresos, por múltiples factores como las barreras de acceso. Conclusiones: Es importante establecer guías de manejo nacional que permitan un diagnóstico más temprano y un tratamiento oportuno y ajustado al riesgo, generar rutas de atención y la recolección de información de múltiples centros para evaluar los resultados y plantear mejoras en las políticas de salud.

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INTRODUCTION Primary central nervous system (CNS) sarcomas are rare mesenchymal non-meningothelial tumors accounting for less than 0.2% of intracranial lesions. Diagnosis and management are challenging due to the current lack of substantive clinical, histological and molecular data. METHODS We retrospectively identified all patients with diagnosis of primary CNS sarcoma at the Hospital Fundación Pediatrico la Misericordia (HOMI) in Bogota, Colombia. We collected patient demographics, disease characteristics, and outcomes for analysis. RESULTS Between 2008 and 2020, twenty-four consecutive patients were diagnosed at the HOMI representing 6% of all CNS tumors diagnosed over the same time period. The median age at presentation was 9.48 years (range:1.6–13.4). The median time of symptoms prior to diagnosis was 2 weeks (0.1–24). The most common presentation was headache (21/24- 89%) and vomiting (19/24- 79%). The frontal lobe was involved in 63% of patients (15/24) and only one patient presented with a cerebellar lesion. Histologically, these tumors were characterized by a pleomorphic spindle cell architecture and high mitotic activity. All samples lacked immunoreactivity to GFAP, CD34, EMA, and S100 and all samples had strong nuclear immunopositivity for TLE-1; BCL-2 was reactive in eighteen cases. Gross total resection was attained in fifteen patients, most patients received focal radiation therapy and ICE chemotherapy. Progression-free survival at 12 and 24 months was 57% and 31% respectively. Overall survival was 77% at 12 months and 39% at 24 months. Thirteen patients relapsed, 11 presented with local failures, and 2 with intracranial recurrences outside of the radiation field. CONCLUSION Our study identifies TLE-1 as a diagnostic marker of primary CNS sarcoma, a highly malignant supratentorial tumor of childhood. Further molecular studies are urgently needed to elucidate the biology of this disease and the unusually high incidence observed in the Colombian pediatric population.

Objetivo: describir y correlacionar las variantes genéticas, farmacogenéticas, características clínicas y desenlaces en una cohorte de pacientes pediátricos con leucemia mieloide aguda de novo en dos centros de cáncer pediátrico de Bogotá D.C. Materiales y métodos: estudio observacional descriptivo de cohorte; se incluyeron 51 muestras de pacientes pediátricos con diagnóstico confirmado de LMA de novo. A todas las muestras se les realizó estudio de citogenética convencional y molecular, pruebas de biología molecular, secuencia de nueva generación (panel para LMA) y análisis de variantes farmacogenéticas en ABCB1, CDA, DCK, GSTT1 y GSTM1 mediante SNaPshot y PCR. Variantes genéticas, características clínicas, eventos y desenlaces fueron evaluados mediante odds ratio, Chi cuadrado y curvas de supervivencia.