Page 69 - Read Online

Neumann et al. J Transl Genet Genom 2022;6:353-60 Journal of Translational
DOI: 10.20517/jtgg.2022.06
Genetics and Genomics

Case Report Open Access

NUT midline carcinoma presenting initially as
thyroid cancer: a case report and review of

treatment

2
Melissa Neumann 1 , Adam Hines 2 , Qing Chang , Nagashree Seetharamu 2 , Carlos A. Lopez 2
1
Donald and Barbara Zucker, School of Medicine at Hofstra/Northwell, 300 Community Drive, Manhasset, NY 11030, USA.
2
Donald and Barbara Zucker, School of Medicine at Hofstra/Northwell, Northwell Health Cancer Institute, Lake Success, NY
10021, USA.
Correspondence to: Dr. Melissa Neumann, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, 300
Community Drive, Manhasset, NY 11030, USA. E-mail: mneumann2@northwell.edu

How to cite this article: Neumann M, Hines A, Chang Q, Seetharamu N, Lopez CA. NUT midline carcinoma presenting initially as
thyroid cancer: a case report and review of treatment. J Transl Genet Genom 2022;6:353-60.
https://dx.doi.org/10.20517/jtgg.2022.06

Received: 7 Feb 2022 First Decision: 12 Apr 2022 Revised: 15 Apr 2022 Accepted: 23 Jun 2022 Published: 10 Aug 2022
Academic Editors: Sanjay Gupta, Brian Hon-Yin Chung Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
The purpose of this abstract is to provide data on a 27-year-old woman with a rare and rapidly progressive cancer,
Nuclear in Testis (NUT) carcinoma (NC), and to highlight possible treatment options for her specific gene
translocation of NSD3-NUT. To our knowledge, this is the first case in the literature that was presented initially as
anaplastic thyroid cancer. We propose that targeted therapy with a histone lysine methyltransferase inhibitor may
be of benefit as adjunctive therapy in patients with the NSD3-NUT gene translocation.

Keywords: Nuclear in Testis (NUT) carcinoma, NUT midline carcinoma, NUT midline carcinoma thyroid, NUT
midline carcinoma BET, NUT midline carcinoma histone methyltransferase, NUT-midline immune checkpoint
inhibitors, NUT midline treatment

INTRODUCTION
Cancer of unknown primary site (CUP) is a heterogeneous group of metastatic cancers for which a primary
tumor cannot be identified after a standardized work-up at the time of diagnosis. Though its incidence is in

© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

www.jtggjournal.com