Clinical Implications of Real-time Integrative Sequencing in Management of Patients With Suspected Germline BAP1 Mutations. Issue 4 (May 2019)

• Record Type: Journal Article
• Authors: Sengupta, Shayan; Weyand, Angela C.; Upadhyaya, Santhosh A.; Wu, Yi-Mi; Robinson, Dan R.; Mody, Rajen J.
• Is Part Of: Journal of pediatric hematology/oncology. Volume 41:Issue 4(2019)
• Publication Date: 2019-05
• Subjects: BRCA-associated protein -- BAP1 -- BRAF -- melanoma -- tumor predisposition syndrome -- TPDS -- sequencing -- clinical sequencing -- germline mutations; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001122
• Languages: English
• ISSNs: 1077-4114

Abstract

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.