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非前列腺恶性肿瘤中的TMPRSS2::ETS易位:胸腺癌和肺腺癌中的意外发现

TMPRSS2::ETS translocation in nonprostatic malignancies: an unexpected finding in thymic carcinoma and pulmonary adenocarcinoma.

作者信息

Németh Kamilla, Báthory-Fülöp László, Kohánka Andrea, Simon Andrea, Tóth Erika, Melegh Zsombor

机构信息

Department of Surgical and Molecular Pathology, National Institute of Oncology, Budapest, Hungary.

National Tumour Biology Laboratory, National Institute of Oncology, Budapest, Hungary.

出版信息

Virchows Arch. 2025 Mar;486(3):627-631. doi: 10.1007/s00428-024-03927-0. Epub 2024 Sep 16.

Abstract

TMPRSS2::ETS fusions occur in about half of the prostate adenocarcinomas and are generally considered characteristic and even diagnostic of this tumour. Despite this fact, the frequency of this fusion is not well established in other tumour types. Incidental identification of a TMPRSS2::ETV1 fusion in a thymic squamous cell carcinoma prompted us to assess 1758 solid tumours by next-generation sequencing panel for TMPRSS2::ETS fusions, including 1690 non-prostatic malignancies. In addition to 28 of the 68 prostatic adenocarcinomas, we identified TMPRRS2::ETS fusion in two non-prostatic tumours, where a prostatic adenocarcinoma could be confidently excluded. Besides the TMPRSS2::ETV1 fusion identified in the thymic carcinoma, we also observed TMPRSS2::ERG fusion in pulmonary adenocarcinoma. Both patients were male, which would support an androgen-driven background. Our findings suggest that although at a low frequency, TMPRSS2::ETS fusion may occur in non-prostatic tumours, and sole reliance on its identification can potentially result in erroneous diagnostic conclusions.

摘要

TMPRSS2::ETS融合在大约一半的前列腺腺癌中出现,通常被认为是这种肿瘤的特征性表现甚至具有诊断意义。尽管如此,这种融合在其他肿瘤类型中的发生率尚未得到充分证实。在一例胸腺鳞状细胞癌中偶然发现了TMPRSS2::ETV1融合,这促使我们通过二代测序panel对1758例实体瘤进行TMPRSS2::ETS融合检测,其中包括1690例非前列腺恶性肿瘤。除了68例前列腺腺癌中的28例,我们在另外两例可以明确排除前列腺腺癌的非前列腺肿瘤中也发现了TMPRRS2::ETS融合。除了在胸腺癌中发现的TMPRSS2::ETV1融合,我们还在肺腺癌中观察到了TMPRSS2::ERG融合。两名患者均为男性,这支持雄激素驱动的背景。我们的研究结果表明,尽管TMPRSS2::ETS融合在非前列腺肿瘤中的发生率较低,但仅依靠其检测可能会导致错误的诊断结论。

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