Guanming Jiang1, Min Zhang2, Qinquan Tan1, Shunhuan Lin1, Yihong Zeng1, Chun Liu1, Rongrong Chen2, Jianping Zhou3. 1. Dongguan People's Hospital, No. 3, South Wandao Road, Wanjiang District, Dongguan Municipality, Guangdong Province, 523059, China. 2. Geneplus-Beijing Ltd., Floor 9, Building 6, Medical Park Road, Zhongguancun Life Science Park, Changping District, Beijing, 102206, China. 3. Dongguan People's Hospital, No. 3, South Wandao Road, Wanjiang District, Dongguan Municipality, Guangdong Province, 523059, China. Electronic address: 987800679@qq.com.
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.
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: AKT1E17K and BRAF (B-Raf proto-oncogene, serine/threonine kinase) V600E. This is the first case report of a BRAFV600E mutation in a patient with SP. This discovery extends our understanding of the pathogenesis of SP, and suggests the need for future testing of BRAFV600E in this rare tumor type.