Identification of the BRAF V600E mutation in a patient with sclerosing pneumocytoma: A case report
Identification of the BRAF V600E mutation in a patient with sclerosing pneumocytoma: A case report
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DOI：
10.1016/j.lungcan.2019.09.004
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发表时间：
2019-11-01
期刊：
影响因子：
5.3
通讯作者：
Zhou, Jianping
中科院分区：
文献类型：
--
作者：
Jiang, Guanming;Zhang, Min;Zhou, Jianping
目的：硬化性肺细胞瘤是一种少见的肺部良性肿瘤，复发风险低。SP的基因组图谱还不是很清楚。材料和方法：应用免疫组织化学(IHC)、下一代测序(NGS)和Sanger测序技术对该患者肿瘤组织进行病理诊断和基因突变分析。结果与结论：通过NGS和Sanger测序在肿瘤组织中发现了两个突变：AKT1 E17K和BRAF(B-Raf原癌基因，丝氨酸/苏氨酸激酶)V600E。这是首例SP患者BRAF V600E突变的病例报告。这一发现扩大了我们对SP发病机制的理解，并提示未来有必要对这种罕见的肿瘤类型进行BRAF V600E的检测。
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 17year-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.