1.
J Pediatr Hematol Oncol
; 41(4): e263-e265, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29554022
RESUMO
Germline mutation of BRCA-associated protein-1 has been implicated in the development of tumor predisposition syndrome and high risk for malignant mesothelioma, lung adenocarcinoma, uveal melanoma, and cutaneous melanoma. Here, we present the case of a patient with recurrent metastatic melanoma who was found to have germline BAP1 and somatic BRAF mutation by clinical genomic sequencing. Detection of a germline mutation prompted screening for other cancers and surveillance in family members. Prospective integrative sequencing for pediatric cancer patients may identify pathogenic germline mutations and may improve outcomes and treatment-related morbidity by early diagnosis of malignancy.
Assuntos
Sequenciamento do Exoma/métodos , Melanoma/genética , Síndromes Neoplásicas Hereditárias/diagnóstico , Síndromes Neoplásicas Hereditárias/genética , Neoplasias Cutâneas/genética , Proteínas Supressoras de Tumor/genética , Ubiquitina Tiolesterase/genética , Adolescente , Feminino , Testes Genéticos/métodos , Mutação em Linhagem Germinativa , Humanos , Linhagem , Melanoma Maligno Cutâneo
2.
JAMA Otolaryngol Head Neck Surg
; 143(5): 523-525, 2017 05 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28125750