A case of <scp><i>YAP1</i></scp> and <scp><i>NUTM1</i></scp> rearranged porocarcinoma with corresponding immunohistochemical expression: Review of recent advances in poroma and porocarcinoma pathogenesis with potential diagnostic utility
Ourania Parra, Darcy A. Kerr, Julia A. Bridge, Andrew P. Loehrer, Konstantinos Linos
Abstract
Porocarcinoma is a rare malignant adnexal tumor with predilection for the lower extremities and the head and neck region of older adults. This entity may arise de novo or in association with a benign poroma. Porocarcinoma's non-specific clinical appearance, immunohistochemical profile, and divergent differentiation may occasionally be diagnostically challenging. Recently, highly recurrent YAP1 and NUTM1 gene rearrangements have been described in cases of poroma and porocarcinoma. In this report, we present a case of porocarcinoma with squamous differentiation in an 81-year-old woman which harbored rearrangement of the YAP1 and NUTM1 loci and was diffusely immunoreactive for NUTM1. We discuss the recent advancements in the pathogenesis of poromas and porocarcinomas with emphasis on the clinical utility of the NUTM1 antibody.