1.
J Pediatr Hematol Oncol
; 41(4): e263-e265, 2019 05.
Article
in English
| MEDLINE
| ID: mdl-29554022
ABSTRACT
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.
Subject(s)
Exome Sequencing/methods , Melanoma/genetics , Neoplastic Syndromes, Hereditary/diagnosis , Neoplastic Syndromes, Hereditary/genetics , Skin Neoplasms/genetics , Tumor Suppressor Proteins/genetics , Ubiquitin Thiolesterase/genetics , Adolescent , Female , Genetic Testing/methods , Germ-Line Mutation , Humans , Pedigree , Melanoma, Cutaneous Malignant
2.
JAMA Otolaryngol Head Neck Surg
; 143(5): 523-525, 2017 05 01.
Article
in English
| MEDLINE
| ID: mdl-28125750