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

Sengupta, Shayan, BS*; Weyand, Angela C., MD; Upadhyaya, Santhosh A., MD; Wu, Yi-Mi, PhD§; Robinson, Dan R., PhD; Mody, Rajen J., MD, MS

Journal of Pediatric Hematology/Oncology: May 2019 - Volume 41 - Issue 4 - p e263–e265
doi: 10.1097/MPH.0000000000001122
Online Articles: Clinical and Laboratory Observations
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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.

*University of Michigan Medical School

Department of Pediatrics and Communicable Diseases, Division of Pediatric Hematology and Oncology, University of Michigan Medical Center

Department of Oncology, St. Jude Children’s Research Hospital, Memphis, TN

§Michigan Center for Translational Pathology

Department of Pathology, University of Michigan, Ann Arbor, MI

The authors declare no conflict of interest.

Reprints: Angela C. Weyand, MD, Department of Pediatrics and Communicable Diseases, Division of Pediatric Hematology and Oncology, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109 (e-mail: acweyand@umich.edu).

Received October 23, 2017

Accepted November 20, 2017

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