RESUMO
Infantile myofibromatosis is a rare disorder characterized by the formation of tumors in the skin, soft tissues, bone, and viscera. We report the case of a 3-week-old girl who presented with severe hypertension due to generalized infantile myofibromatosis including renal involvement. The infant was treated by chemotherapy and showed progressive regression of the tumors. However, her evolution was marked by the development of aneurismal dilations of the renal and iliac arteries as observed in fibromuscular dysplasia. We discuss the possibility of a link between these two mesenchymal disorders.
Assuntos
Aneurisma/etiologia , Aneurisma Ilíaco/etiologia , Miofibromatose/complicações , Obstrução da Artéria Renal/etiologia , Artéria Renal , Aneurisma/diagnóstico , Aneurisma/cirurgia , Antineoplásicos/uso terapêutico , Biópsia , Implante de Prótese Vascular , Feminino , Humanos , Hipertensão/etiologia , Aneurisma Ilíaco/diagnóstico , Aneurisma Ilíaco/cirurgia , Recém-Nascido , Miofibromatose/diagnóstico , Miofibromatose/tratamento farmacológico , Radiografia , Artéria Renal/diagnóstico por imagem , Artéria Renal/cirurgia , Obstrução da Artéria Renal/diagnóstico , Obstrução da Artéria Renal/cirurgia , Diálise Renal , Resultado do TratamentoRESUMO
A 15-year-old girl with adenomatous polyposis coli gene (APC) mutation and brain tumor-polyposis syndrome developed an unusual succession of cervicocephalic tumors (medulloblastoma, meningeal low-grade myxoid tumor, and papillary thyroid carcinoma), at the age of 5, 9, and 15 years, respectively. We discuss the genetic profile of the thyroid tumor in which a large somatic deletion of APC gene was found and the physiopathology of thyroid carcinoma in patients with germline APC mutation. We also point out the uncommon phenotype in this young girl with early multiple neoplasias and the difficulties of management of such familial adenomatous polyposis patients with occurrence of extracolonic cancers that require the use of potential trigger agents as radiotherapy or chemotherapy.
Assuntos
Polipose Adenomatosa do Colo/complicações , Polipose Adenomatosa do Colo/genética , Genes APC , Neoplasias Primárias Múltiplas/complicações , Neoplasias Primárias Múltiplas/genética , Adolescente , Criança , Pré-Escolar , Análise Mutacional de DNA , Feminino , Deleção de Genes , Mutação em Linhagem Germinativa , Humanos , Linhagem , Reação em Cadeia da PolimeraseRESUMO
A 9-year-old female with ataxia-telangiectasia (AT) presenting with papillary thyroid carcinoma and lymph nodes involvement is reported. We discuss this novel association, the general risk of neoplasic complications in these patients, the natural history of thyroid carcinoma in the pediatric population and the potential link between thyroid carcinogenesis and ataxia-telangiectasia mutated gene (ATM) mutation. We also expose our therapeutic attitude, according to both clinical status and particular genetic background of our patient.