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NUT癌中的新型融合且对化疗反应异常:一例报告

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

作者信息

Wu Sarah J, Kim Justin J, Huang Yeying, Durall R Taylor, Becker Simone, Canty Stephanie, Molinaro Stefania, Pisick Evan, Shapiro Geoffrey I, French Christopher A, Luo Jia

机构信息

Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.

Lowe Center for Thoracic Oncology, Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts.

出版信息

JTO Clin Res Rep. 2023 Dec 23;5(1):100625. doi: 10.1016/j.jtocrr.2023.100625. eCollection 2024 Jan.

Abstract

We present the first known case of a patient with -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 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.

摘要

我们报告了首例已知的由 驱动的 NUT 癌病例。一名 59 岁女性患者表现为低分化鳞状细胞肺癌伴胸膜转移。最终,NUT 免疫组化阳性、NUT 荧光原位杂交以及 RNA 二代测序发现 融合,从而确诊为 NUT 癌。她接受了多线化疗且有反应,确诊后 2 年仍存活。本报告扩展了 NUT 癌中已知的融合情况,并强调了基于基因融合伙伴的患者预后潜在差异。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63e6/10823067/a91774d0d7e9/gr2.jpg

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