病例报告:子宫肉瘤伴脾转移的 STRN3-NTRK3 融合:NTRK 重组肿瘤谱系中的一种新变异。

IF 3.1 3区 医学 Q1 MEDICINE, GENERAL & INTERNAL Frontiers in Medicine Pub Date : 2024-11-08 eCollection Date: 2024-01-01 DOI:10.3389/fmed.2024.1448491
Piergiuseppe Colombo, Giuseppina Adriana Buonamassa, Anita Giulianini, Letizia Hassan, Noemi Rudini, Antonio Rizzo, Enrico Cavallo, Carlo Carnaghi, Salumeh Goudarzi, Sebastiano Mongiovì, Sarah Pafumi, Stefano Marletta
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引用次数: 0

摘要

神经营养酪氨酸受体激酶(NTRK)融合是一种不常见的基因事件,可发生在各种肿瘤类型中。具体来说,NTRK重组肉瘤已在小儿间质瘤中观察到,在成人间质瘤(如纤维肉瘤)中也有发现,但程度较轻。最近,NTRK重排子宫肉瘤(US)被确定为一种罕见实体,其特征是TRK受体组成性激活或过表达,TRK受体在细胞增殖和分化中发挥作用。自2018年首次描述以来,仅有46例NTRK重排US的报道。在此背景下,我们在此描述了一例特殊的STRN3::NTRK3融合US病例,该病例经组织学证实存在脾脏转移。值得注意的是,这种定位以前在文献中从未与纯子宫肉瘤联系在一起。这种融合涉及STRN3(外显子-3)和NTRK3(外显子-14)基因,是通过新一代测序分析确定的。识别这种特异性分子重排至关重要,因为它不仅有助于靶向治疗,而且在特定临床情况下具有诊断意义。
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Case report: STRN3-NTRK3 fusion in uterine sarcoma with spleen metastasis: a new variant in the spectrum of NTRK-rearranged tumors.

Neurotrophic tyrosine receptor kinase (NTRK) fusions are infrequent genetic events that can occur in various tumor types. Specifically, NTRK-rearranged sarcoma has been observed in pediatric mesenchymal tumors and, to a lesser extent, in adult mesenchymal tumors like fibrosarcoma. Recently, NTRK-rearranged uterine sarcoma (US) has been identified as a rare entity characterized by constitutive activation or overexpression of the TRK receptor, which plays a role in cell proliferation and differentiation. Since its initial description in 2018, only 46 cases of NTRK-rearranged US have been reported. In this context, herein we describe an exceptional case of an STRN3::NTRK3 fused US with histologically confirmed splenic metastasis. Notably, such localization has not been previously associated with pure uterine sarcomas in the literature. The fusion involved STRN3 (exon-3) and NTRK3 (exon-14) genes and was identified through next-generation sequencing analysis. Recognizing this specific molecular rearrangement is crucial, as it not only enables targeted therapy but also holds diagnostic significance in specific clinical scenarios.

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来源期刊
Frontiers in Medicine
Frontiers in Medicine Medicine-General Medicine
CiteScore
5.10
自引率
5.10%
发文量
3710
审稿时长
12 weeks
期刊介绍: Frontiers in Medicine publishes rigorously peer-reviewed research linking basic research to clinical practice and patient care, as well as translating scientific advances into new therapies and diagnostic tools. Led by an outstanding Editorial Board of international experts, this multidisciplinary open-access journal is at the forefront of disseminating and communicating scientific knowledge and impactful discoveries to researchers, academics, clinicians and the public worldwide. In addition to papers that provide a link between basic research and clinical practice, a particular emphasis is given to studies that are directly relevant to patient care. In this spirit, the journal publishes the latest research results and medical knowledge that facilitate the translation of scientific advances into new therapies or diagnostic tools. The full listing of the Specialty Sections represented by Frontiers in Medicine is as listed below. As well as the established medical disciplines, Frontiers in Medicine is launching new sections that together will facilitate - the use of patient-reported outcomes under real world conditions - the exploitation of big data and the use of novel information and communication tools in the assessment of new medicines - the scientific bases for guidelines and decisions from regulatory authorities - access to medicinal products and medical devices worldwide - addressing the grand health challenges around the world
期刊最新文献
A cluster randomized trial on inspiratory effort-targeted pressure support adjustment strategy in patients undergoing assisted mechanical ventilation: protocol for the IT-PSV study. Analysis of factors influencing bronchiectasis patients with active pulmonary tuberculosis and development of a nomogram prediction model. Case report: STRN3-NTRK3 fusion in uterine sarcoma with spleen metastasis: a new variant in the spectrum of NTRK-rearranged tumors. Corrigendum: A comprehensive review of Mycoplasma pneumoniae infection in chronic lung diseases: recent advances in understanding asthma, COPD, and bronchiectasis. Continuing medical education program completion and influencing factors: a cross-sectional study in Sichuan Province, China.
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