Identification of the BRAF V600E mutation in a patient with sclerosing pneumocytoma: A case report. (November 2019)

• Record Type: Journal Article
• Authors: Jiang, Guanming; Zhang, Min; Tan, Qinquan; Lin, Shunhuan; Zeng, Yihong; Liu, Chun; Chen, Rongrong; Zhou, Jianping
• Is Part Of: Lung cancer. Volume 137(2019)
• Page Start: 52
• Page End: 55
• Publication Date: 2019-11
• Subjects: SP sclerosing pneumocytoma -- CT computed tomography -- IHC immunohistochemistry -- NGS next-generation sequencing -- AKT1 AKT serine/threonine kinase 1 -- BRAF B-Raf proto-oncogene, serine/threonine kinase; Sclerosing pneumocytoma -- BRAF V600E -- Next-generation sequencing -- Benign tumor; Lungs -- Cancer -- Periodicals; Lung Neoplasms -- Abstracts; Lung Neoplasms -- Periodicals; Poumons -- Cancer -- Périodiques; Lungs -- Cancer; Periodicals; Electronic journals; Electronic journals; 616.99424
• DOI: 10.1016/j.lungcan.2019.09.004
• Languages: English
• ISSNs: 0169-5002

Abstract

Highlights: BRAF V600E is common in malignant tumor, like melanoma and NSCLC. Sclerosing pneumocytoma is a rare benign tumor. Sclerosing pneumocytoma has limit data in genomic research. It's the first report that BRAF V600E was found in a young sclerosing pneumocytoma. The report extended understandings of pathogenesis of sclerosing pneumocytoma. Abstract: Objectives: Sclerosing pneumocytoma (sclerosing hemangioma, SP) is a rare benign tumor of the lung with a low risk of recurrence. The genomic profile of SP is not well-known. Here we report gene mutation findings in a 17-year-old girl with SP. Materials and methods: Immunohistochemistry (IHC), next-generation sequencing (NGS), and sanger sequencing were performed on the tumor tissue of this patient for pathological diagnosis and gene mutation analysis. Results and conclusion: Two mutations were identified in the tumor tissue by NGS and sanger sequencing: AKT1 E17K and BRAF (B-Raf proto-oncogene, serine/threonine kinase) V600E. This is the first case report of a BRAF V600E mutation in a patient with SP. This discovery extends our understanding of the pathogenesis of SP, and suggests the need for future testing of BRAF V600E in this rare tumor type.