RESUMEN
In mice, activated Hedgehog (Hh) signaling induces tumors with myogenic differentiation. In humans, hyperactive Hh signaling due to germline PATCHED1 (PTCH1) mutations has been linked to nevoid basal cell carcinoma syndrome (NBCCS). We report an embryonal rhabdomyosarcoma in a 16-month-old girl with NBCCS and review the literature on myogenic neoplasms in NBCCS, including 8 fetal rhabdomyomas and 3 rhabdomyosarcomas. Of note, 3 population studies, including 255 individuals with NBCCS aged 4 months to 87 years, did not identify any myogenic tumors. Thus, myogenic tumors in NBCCS are rare and include both rhabdomyosarcomas and fetal rhabdomyomas.
Asunto(s)
Síndrome del Nevo Basocelular/complicaciones , Mutación/genética , Receptores de Superficie Celular/genética , Rabdomiosarcoma/diagnóstico , Síndrome del Nevo Basocelular/genética , Síndrome del Nevo Basocelular/patología , Femenino , Humanos , Lactante , Receptores Patched , Receptor Patched-1 , Pronóstico , Literatura de Revisión como Asunto , Rabdomiosarcoma/etiologíaRESUMEN
Objective: To highlight a novel, treatable syndrome, we report 4 patients with CNS-isolated inflammation associated with familial hemophagocytic lymphohistiocytosis (FHL) gene mutations (CNS-FHL). Methods: Retrospective chart review. Results: Patients with CNS-FHL are characterized by chronic inflammation restricted to the CNS that is not attributable to any previously described neuroinflammatory etiology and have germline mutations in known FHL-associated genes with no signs of systemic inflammation. Hematopoietic stem cell transplantation (HCT) can be well tolerated and effective in achieving or maintaining disease remission in patients with CNS-FHL. Conclusions: Early and accurate diagnosis followed by treatment with HCT can reduce morbidity and mortality in CNS-FHL, a novel, treatable syndrome. Classification of evidence: This study provides Class IV evidence that HCT is well tolerated and effective in treating CNS-FHL.
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Enfermedades del Sistema Nervioso Central/diagnóstico , Linfohistiocitosis Hemofagocítica/diagnóstico , Enfermedades del Sistema Nervioso Central/genética , Niño , Preescolar , Femenino , Mutación de Línea Germinal , Humanos , Linfohistiocitosis Hemofagocítica/genéticaRESUMEN
INTRODUCTION: Influenza vaccination of pediatric oncology and stem cell transplant (SCT) patients is crucial due to high risk of complications. Achieving high vaccination rates to prevent illness is often limited by competing demands and intensive treatment. A quality improvement (QI) initiative beginning influenza season 2012-2013 aimed to achieve and sustain high vaccination rates in active patients > 6 months of age, receiving cancer therapy or SCT within 6 months before or at any time during the season, and > 100 days after allogeneic SCT. METHODS: We identified key drivers and barriers to success from an initially developed vaccination process that proved to be burdensome. Change ideas were implemented through multiple tests of change during the QI initiative. Iterations within and across 4 subsequent seasons included patient identification through chemotherapy orders, provider education, incorporating vaccination into routine work-flow, continuous data analysis and feedback, and use of new reporting technology. RESULTS: Initial vaccination rates were < 70%, increasing to 89% after the QI initiative began and subsequently sustained between 85% and 90%. Active patients were significantly more likely to be vaccinated during the initiative (odds ratio, 3.7; 95% CI, 2.9-4.6) as compared with the first 2 seasons. CONCLUSIONS: High influenza vaccination rates can be achieved and maintained in a pediatric oncology/SCT population using strategies that correctly identify patients at highest risk and minimize process burden.