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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.

DOI:10.1016/j.jtocrr.2023.100625
PMID:38287941
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10823067/
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/63e6/10823067/77f4cf9ce71d/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63e6/10823067/a91774d0d7e9/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63e6/10823067/08199bfeda3f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63e6/10823067/77f4cf9ce71d/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63e6/10823067/a91774d0d7e9/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63e6/10823067/08199bfeda3f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/63e6/10823067/77f4cf9ce71d/gr3.jpg

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本文引用的文献

1
Initial Chemotherapy for Locally Advanced and Metastatic NUT Carcinoma.局部晚期和转移性 NUT 癌的初始化疗。
J Thorac Oncol. 2024 May;19(5):829-838. doi: 10.1016/j.jtho.2023.12.022. Epub 2023 Dec 27.
2
Structural mechanism of BRD4-NUT and p300 bipartite interaction in propagating aberrant gene transcription in chromatin in NUT carcinoma.BRD4-NUT 和 p300 二聚体相互作用在传播 NUT 癌染色质中异常基因转录的结构机制。
Nat Commun. 2023 Jan 24;14(1):378. doi: 10.1038/s41467-023-36063-5.
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Structural insights into p300 regulation and acetylation-dependent genome organisation.
结构洞察 p300 调控和乙酰化依赖的基因组组织。
Nat Commun. 2022 Dec 15;13(1):7759. doi: 10.1038/s41467-022-35375-2.
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Report of the First International Symposium on NUT Carcinoma.NUT 癌第一届国际研讨会报告。
Clin Cancer Res. 2022 Jun 13;28(12):2493-2505. doi: 10.1158/1078-0432.CCR-22-0591.
5
An Anatomical Site and Genetic-Based Prognostic Model for Patients With Nuclear Protein in Testis (NUT) Midline Carcinoma: Analysis of 124 Patients.睾丸核蛋白(NUT)中线癌患者的解剖部位和基于基因的预后模型:124例患者分析
JNCI Cancer Spectr. 2019 Nov 6;4(2):pkz094. doi: 10.1093/jncics/pkz094. eCollection 2020 Apr.
6
Activation of SOX2 expression by BRD4-NUT oncogenic fusion drives neoplastic transformation in NUT midline carcinoma.BRD4-NUT致癌融合蛋白激活SOX2表达驱动NUT中线癌的肿瘤转化。
Cancer Res. 2014 Jun 15;74(12):3332-43. doi: 10.1158/0008-5472.CAN-13-2658. Epub 2014 Apr 15.
7
MYC, a downstream target of BRD-NUT, is necessary and sufficient for the blockade of differentiation in NUT midline carcinoma.BRD-NUT 下游靶标 MYC 对于 NUT 中线癌的分化阻断是必要且充分的。
Oncogene. 2014 Mar 27;33(13):1736-1742. doi: 10.1038/onc.2013.126. Epub 2013 Apr 22.
8
Diagnosis of NUT midline carcinoma using a NUT-specific monoclonal antibody.使用 NUT 特异性单克隆抗体诊断 NUT 中线癌。
Am J Surg Pathol. 2009 Jul;33(7):984-91. doi: 10.1097/PAS.0b013e318198d666.