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Employing Digital Droplet PCR to Detect BRAF V600E Mutations in Formalin-fixed Paraffin-embedded Reference Standard Cell Lines
Published on: October 8, 2015
The First Report of BRAF V600E Mutation in Paratesticular Mesothelioma
Ting Zhao1, Yin P Hung1, Adam S Fisch1
1Department of Pathology, Massachusetts General Hospital, Mass General Brigham and Harvard Medical School, Boston, MA, USA.
Abstract:
Paratesticular mesothelioma is rare with limited data on its clinicopathologic and molecular characteristics. BRAF p.V600E mutation is exceptionally rare in mesotheliomas and has been reported in 5 pleural mesotheliomas to date. Herein, we reported the first paratesticular mesothelioma harboring a BRAF V600E mutation. A 44-year-old man with a history of asbestos exposure presented with painless right testicular swelling. Orchiectomy revealed a 1.5-cm biphasic mesothelioma composed of 80% sarcomatoid component admixed with 20% epithelioid component. The sarcomatoid component consisted of spindle cells in fascicular to haphazard patterns within a myxoid to collagenous stroma, while the epithelioid component showed predominantly tubulopapillary architecture. The biphasic mesothelioma expressed mesothelial markers with intact expression of BAP1, MTAP, and Merlin. Next-generation sequencing identified BRAF V600E mutation, which was also confirmed by immunohistochemistry for BRAF V600E. The patient received adjuvant chemotherapy and remained free of disease at 11 months of follow-up. This report expands the histomorphologic and molecular spectrum of paratesticular mesothelioma with the novel identification of a BRAF V600E mutation.
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