RESUMO
Knowledge about genetic predisposition to pediatric cancer is constantly expanding. The categorization and clinical management of the best-known syndromes has been refined over the years. Meanwhile, new genes for pediatric cancer susceptibility are discovered every year. Our current work shares the results of genetically studying the germline of 170 pediatric patients diagnosed with cancer. Patients were prospectively recruited and studied using a custom panel, OncoNano V2. The well-categorized predisposing syndromes incidence was 9.4%. Likely pathogenic variants for predisposition to the patient's tumor were identified in an additional 5.9% of cases. Additionally, a high number of pathogenic variants associated with recessive diseases was detected, which required family genetic counseling as well. The clinical utility of the Jongmans MC tool was evaluated, showing a high sensitivity for detecting the best-known predisposing syndromes. Our study confirms that the Jongmans MC tool is appropriate for a rapid assessment of patients; however, the updated version of Ripperger T criteria would be more accurate. Meaningfully, based on our findings, up to 9.4% of patients would present genetic alterations predisposing to cancer. Notably, up to 20% of all patients carry germline pathogenic or likely pathogenic variants in genes related to cancer and, thereby, they also require expert genetic counseling. The most important consideration is that the detection rate of genetic causality outside Jongmans MC et al. criteria was very low.
RESUMO
La Purpura de Henoch Schonlein (PHS) es la vasculitis mas frecuente en pediatría. Su análisis epidemiológico, clínico y evolución, son importantes en el manejo de los pacientes. Objetivo general: Revisar unas serie de pacientes con PHS de un hospital de referencia comarcal. Método: Se recogió información de las historias clínicas y se analizaron los datos de acuerdo a parámetros definidos. Resultados: 17 pacientes menores de 15 años fueron evaluados; esta cifra corresponde a 29 casos/año/100.000 habitantes <15años edad promedio 6.12±4.9 años; predominio del sexo masculino; la mayoría de los casos se presentó en otoño e invierno. Se detectó antecedente infeccioso previo o concomitante en 47% de los casos, predominantemente infecciones del tracto respiratorio superior y, la forma de presentación mas frecuente fue la tríada: purpura cutánea palpable, manifestaciones gastrointestinales y articulares. Se encontró que 53% de los pacientes presentaron manifestación nefrológica inicial, predominando hematuria y proteinuria. Todos los casos mantuvieron función de filtración renal normal. Estreptococo beta hemolítico fue aislado en un tercio de los casos. Todos los pacientes han evolucionado satisfactoriamente después de 11±7 meses de seguimiento ambulatorio. Conclusiones: La casuística de PHS en este hospital muestra que la incidencia es mayor al promedio reportado en la mayoría de las casuísticas internacionales y es mayor en otoño, distinto a lo habitualmente reportado. Esto sugiere la probable existencia de factores ambientales, microbiológicos, o de otra índole, no precisados, lo cual ameritaría estudios pertinentes en materia de salud publica.
Background: Henoch Schonlein Purpura (HSP) is the commonest vasculitis in children. To perform epidemiological analysis and to evaluate clinic features and results of follow up are important for the adequate management of patients. Objectives: To review epidemiologic characteristics of HSP in a series of patients attended in a referral hospital in Spain and to analyze clinical, laboratory results and evolution of patients. Methods: Data from the clinical records was collected and analyzed according to defined parameters. Results: 17 patients under 15 years of age were evaluated; it corresponds to 29 cases/year/100.000 IH <15 years. Mean age 6.12±4.9 years. The majority of cases presented in autumn and winter. Infectious antecedent or simultaneous infection with the onset was detected in 47% of cases mainly in upper respiratory tract. Clinical presentation was the classical triad of palpable cutaneous purpura, gastrointestinal and joints manifestations. Initial nephrologic manifestations were found in 53% of cases, predominantly hematuria and proteinuria, with normal glomerular filtration ratio. Beta hemolytic streptococcus was isolated in one third of cases. After ambulatory follow up of 11±7 months all patients have had uneventful recovery. Conclusions: this casuistic of PHS shows that the incidence in this geographic area is higher compared with the majority of international and national series and it is more frequent in autumn, which is different to the reported in other series. This suggests the probable presence of environmental, microbiologic or another features, no clearly known, which requires analysis from the public health point of view.