Related Experiment Video
Updated: Jan 17, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
NSD3::NUTM1 fusion evidenced on RNA sequencing in poorly differentiated thyroid cancer: a report of two cases
Renaud Ciappuccini1,2, Virginie Saguet-Rysanek3, Paul-Antoine Bompain1
1Department of Nuclear Medicine and Thyroid Unit, François Baclesse Comprehensive Cancer Center, Caen, France.
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::NUTM1 translocation was evidenced in both patients by RNA sequencing using the next-generation sequencing panel of our institution.
Conclusion:
We suggest including the search for NUTM1 fusions in the RNA sequencing panel for advanced and refractory thyroid cancers.
Insights
Nuclear protein in testis (NUT) carcinomas, defined by NUTM1 fusions, are aggressive cancers. This study identified NUTM1 fusions in older thyroid cancer patients, suggesting broader screening for advanced cases.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Nuclear protein in testis (NUT) carcinomas are rare, aggressive squamous cell carcinomas originating from midline structures, characterized by NUTM1 gene fusions.
- NUTM1 gene rearrangements are infrequently found in thyroid cancer, typically in younger patients (≤45 years old).
- NSD3::NUTM1 translocation is the most prevalent NUTM1 fusion in thyroid cancer; however, NUTM1 fusions are not routinely tested in poorly differentiated thyroid cancer (PDTC) or anaplastic thyroid cancer (ATC) due to their rarity.
