Primary cutaneous NUT adnexal carcinoma: morphologic, genetic and methylation analysis of seven new cases with comparison to extracutaneous NUT carcinoma and NUTM1-rearranged porocarcinoma.

ABSTRACT: NUT carcinoma is a rare malignant neoplasm characterised by recurrent NUTM1 rearrangements, initially reported in the midline. Recently, 10 cases of cutaneous NUT carcinoma with adnexal differentiation harbouring BRD3::NUTM1, NSD3::NUTM1, BRD4::NUTM1 or BRD3::NUTM2B fusions have been reported. Accordingly, 'NUT adnexal carcinoma' (NAC) has been introduced as a provisional tumour entity to the fifth edition of the WHO Classification of Skin Tumours.

Aims

We report the histopathological, molecular genetic and epigenetic features of seven additional cases of NAC.

Methods and results

The cohort consisted of four female and three male patients with a median age of 58 years. Follow-up was available for six cases, and documented diffuse metastatic spreading leading to death at 18 mo

SUBMITTER: Legrand M 

PROVIDER: S-EPMC12326059 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature