患者为硬化性细支气管肺泡细胞瘤，检测出 BRAF V600E 突变：病例报告。
Identification of the BRAF V600E mutation in a patient with sclerosing pneumocytoma: A case report.
机构信息
Dongguan People's Hospital, No. 3, South Wandao Road, Wanjiang District, Dongguan Municipality, Guangdong Province, 523059, China.
Geneplus-Beijing Ltd., Floor 9, Building 6, Medical Park Road, Zhongguancun Life Science Park, Changping District, Beijing, 102206, China.
出版信息
Lung Cancer. 2019 Nov;137:52-55. doi: 10.1016/j.lungcan.2019.09.004. Epub 2019 Sep 6.
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.
目的
硬化性细支气管肺泡细胞瘤（硬化性血管瘤，SP）是一种罕见的肺部良性肿瘤，复发风险低。SP 的基因组特征尚不清楚。本文报道了一例 17 岁 SP 患者的基因突变发现。
材料和方法
对该患者的肿瘤组织进行免疫组化（IHC）、下一代测序（NGS）和 Sanger 测序，用于病理诊断和基因突变分析。
结果和结论
通过 NGS 和 Sanger 测序在肿瘤组织中鉴定出两种突变：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。这一发现扩展了我们对 SP 发病机制的认识，并提示需要对这种罕见肿瘤类型进行 BRAF V600E 的进一步检测。
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