RESUMO
Neurofibromatosis Type 1 (NF1) is a genetic disorder with an incidence of 1 in 2600 to 3000 individuals. It is a clinical diagnosis characterized by café-au-lait macules, neurofibromas, and axillary and/or groin freckling. Because of genetic mutations in the NF1 gene affecting the Ras/mitogen-activated protein kinase pathway, there is also risk of associated soft tissue sarcomas and hematologic malignancies. However, reports of classic Hodgkin lymphoma in patients with NF1 are sparse. We report an adolescent with NF1 who developed classic Hodgkin lymphoma. Although there is an unclear association between mutations in the NF1 gene and classic Hodgkin lymphoma, further studies are warranted.
Assuntos
Doença de Hodgkin/complicações , Neurofibromatose 1/complicações , Adolescente , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Manchas Café com Leite/complicações , Manchas Café com Leite/tratamento farmacológico , Manchas Café com Leite/genética , Manchas Café com Leite/patologia , Feminino , Doença de Hodgkin/tratamento farmacológico , Doença de Hodgkin/genética , Doença de Hodgkin/patologia , Humanos , Mutação , Neurofibromatose 1/tratamento farmacológico , Neurofibromatose 1/genética , Neurofibromatose 1/patologia , Neurofibromina 1/genéticaRESUMO
We present a case of a neonate born with kaposiform hemangioendothelioma (KHE), complicated by Kasabach-Merritt phenomenon (KMP) and other serious conditions, who was successfully treated with sirolimus. In addition to complications from thrombocytopenia and fluid overload, during the course of therapy, our patient experienced supratherapeutic drug levels at the commonly accepted starting dose of sirolimus. Patients with KHE and KMP should be closely monitored for potential complications of both the initial disease and unexpected side effects of treatments.
