Utility of <scp>YAP1</scp> and NUT immunohistochemistry in the diagnosis of porocarcinoma

Abstract

BACKGROUND: Porocarcinoma is the malignant counterpart of poroma, a benign tumor derived from the eccrine or apocrine units. In contrast to poroma, porocarcinoma is rare and its diagnosis may be challenging. Recent work has identified YAP1-associated gene fusions in most poromas, and a subset of porocarcinomas. These included YAP1-MAML2 and YAP1-NUTM1, the latter being enriched in porocarcinomas over poromas. METHODS: We studied YAP1 C-terminus and NUT immunohistochemistry in a cohort of 12 porocarcinomas, 10 poromas, 10 squamous cell carcinomas, and 6 hidradenocarcinomas. RESULTS: Seven of 12 (58%) porocarcinomas showed loss of YAP1 C-terminus expression, consistent with a YAP1 fusion. Of these seven, five showed NUT positivity, implying the presence of the YAP1-NUTM1 fusion. One of 12 (8%) cases showed NUT positivity, but retention of YAP1 C-terminus expression, consistent with a non-YAP1 NUT-associated fusion. Eight of 10 (80%) poromas showed loss of YAP1 C-terminus expression and negative NUT staining, consistent with non-NUT YAP1 fusions. All squamous cell carcinomas and hidradenocarcinomas retained YAP1 C-terminus expression and were negative for NUT. CONCLUSION: YAP1 C-terminus and NUT immunohistochemistry may be helpful in the diagnosis of porocarcinoma, with the combination of YAP1 C-terminus loss and NUT positivity being particularly informative.