NSD3::NUTM1 fusion evidenced on RNA sequencing in poorly differentiated thyroid cancer: a report of two cases.

ABSTRACT:

Background

Nuclear protein in testis (NUT) carcinomas are aggressive, poorly or undifferentiated cancers, generally arising from midline structures. This subtype of squamous cell carcinoma is rare and has a poor prognosis. NUT cancers are defined by NUTM1 fusions. Rearrangements of the NUTM1 gene have rarely been described in primary thyroid cancer and are mainly reported in patients ≤45 years old. NSD3::NUTM1 translocation is the most common NUTM1 fusion transcript reported in thyroid cancer. As they are very infrequent, NUTM1 fusions are not routinely sought in poorly differentiated thyroid cancer (PDTC) or anaplastic thyroid cancer (ATC).

Case presentation

We report two PDTC patients >65 years old with locally advanced disease and 18FDG-avid distant metastases. NSD3::NUTM

SUBMITTER: Ciappuccini R 

PROVIDER: S-EPMC12508307 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature