Novel BRD2::NUTM1 Fusion in NUT Carcinoma With Exceptional Response to Chemotherapy: A Case Report

IF 3.5 Q2 ONCOLOGY JTO Clinical and Research Reports Pub Date : 2024-01-01 Epub Date: 2023-12-23 DOI:10.1016/j.jtocrr.2023.100625

Sarah J. Wu MD, PhD , Justin J. Kim GED , Yeying Huang BS , R. Taylor Durall BS , Simone Becker RN , Stephanie Canty CNP, MSN , Stefania Molinaro BS , Evan Pisick MD , Geoffrey I. Shapiro MD, PhD , Christopher A. French MD , Jia Luo MD

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Abstract

We present the first known case of a patient with BRD2::NUTM1-driven NUT carcinoma. A 59-year-old woman presented with poorly differentiated squamous cell lung cancer metastatic to the pleura. Eventually, a positive NUT immunohistochemistry, NUT fluorescence in situ hybridization, and RNA next-generation sequencing with a BRD2::NUTM1 fusion led to the diagnosis of NUT carcinoma. She received multiple lines of chemotherapy with response and is still alive at 2 years postdiagnosis. This report expands on the known fusions in NUT carcinoma and highlights potential differences in patient prognosis on the basis of gene fusion partners.

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NUT癌中的新型BRD2::NUTM1融合，对化疗反应特殊：病例报告

我们介绍了第一例已知的BRD2::NUTM1驱动的NUT癌患者。一名 59 岁的女性患者因分化不良的鳞状细胞肺癌转移至胸膜而就诊。最终，经NUT免疫组化阳性、NUT荧光原位杂交和BRD2::NUTM1融合的RNA新一代测序，确诊为NUT癌。她接受了多线化疗，但均有反应，确诊后两年仍健在。本报告扩展了已知的 NUT 癌融合基因，并强调了根据基因融合伙伴的不同，患者预后可能存在的差异。

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