Clinical Implications of Real-time Integrative Sequencing in Management of Patients With Suspected Germline BAP1 Mutations

J Pediatr Hematol Oncol. 2019 May;41(4):e263-e265. doi: 10.1097/MPH.0000000000001122.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Exome Sequencing / methods*
  • Female
  • Genetic Testing / methods
  • Germ-Line Mutation
  • Humans
  • Melanoma / genetics*
  • Melanoma, Cutaneous Malignant
  • Neoplastic Syndromes, Hereditary / diagnosis*
  • Neoplastic Syndromes, Hereditary / genetics*
  • Pedigree
  • Skin Neoplasms / genetics*
  • Tumor Suppressor Proteins / genetics*
  • Ubiquitin Thiolesterase / genetics*

Substances

  • BAP1 protein, human
  • Tumor Suppressor Proteins
  • Ubiquitin Thiolesterase