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Recurrent genetic alterations and biomarker expression in primary and metastatic squamous cell carcinomas of the vulva

Human Pathology Aug 26, 2019

Xing D, Liu Y, Park HJ, et al. - Researchers investigated genetic changes on a set of vulvar squamous cell carcinomas (SCCs) with stress on the primary and metastatic samples from the same patient, to recognize amenable therapeutic targets, using a comprehensive next-generation sequencing pipeline (143 genes), Oncomine Comprehensive v.2. DNA was extracted from 42 paraffin-embedded tumor tissues of 32 cases. In the paired primary site and distant metastatic location, six cases exhibited identical mutations and four cases displayed distinctive mutational profiles. In 6 of 10 primary tumors, PD-L1 expression was observed and discordant PD-L1 expression in the primary and metastatic sites was exhibited by all 6 paired cases. In conclusion, for the treatment of these aggressive tumors with various etiology, the genetic alterations that are amenable to targeted therapy, giving the potential for individualized management approaches, were validated. Discordant PD-L1 expression in the primary and metastatic vulvar SCCs reflects the significance of assessment of PD-L1 expression in various locations to avoid false-negative information given for immunotherapy.
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