Identification of the BRAF V600E mutation in a patient with sclerosing pneumocytoma: A case report

•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 pat...

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Veröffentlicht in:Lung cancer (Amsterdam, Netherlands) Netherlands), 2019-11, Vol.137, p.52-55
Hauptverfasser: Jiang, Guanming, Zhang, Min, Tan, Qinquan, Lin, Shunhuan, Zeng, Yihong, Liu, Chun, Chen, Rongrong, Zhou, Jianping
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Sprache:eng
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Zusammenfassung:•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. 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. 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. 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.
ISSN:0169-5002
1872-8332
DOI:10.1016/j.lungcan.2019.09.004