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Updated: Jan 19, 2026
Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
Identification of the BRAF V600E mutation in a patient with sclerosing pneumocytoma: A case report
Guanming Jiang1, Min Zhang2, Qinquan Tan1
1Dongguan People's Hospital, No. 3, South Wandao Road, Wanjiang District, Dongguan Municipality, Guangdong Province, 523059, China.
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.
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