Pathologic and genomic characteristics of myoepithelioma-like tumor of the vulvar region: three case reports.

IF 2.4 3区医学 Q2 PATHOLOGY

Diagnostic Pathology Pub Date : 2025-04-05 DOI:10.1186/s13000-025-01635-0

Xinyu Chen, Qingming Jiang, Jue Xiao, Mingqiong Zhang, Lili Shen

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引用次数: 0

Abstract

Background: Myoepithelioma-like tumor of the vulvar region (MELTVR) is a rare type of soft tissue mesenchymal tumor. While MELTVR exhibits histological characteristics similar to soft tissue myoepithelial tumors, its immunohistochemical and genetic features differ significantly. To date, no comprehensive genomic analysis of this tumor has been conducted.

Case presentation: We present the clinicopathological features, imaging characteristics, and immunophenotypes of three patients with MELTVR, along with their genomic characterization through high-throughput sequencing. Immunohistochemical analysis revealed that these tumors were negative for SMARCB1, S-100, CD34, CD31, SMA, Desmin, and Keratin. The Ki-67 proliferation index for tumor cells ranged from 10 to 35%. Genomic analyses showed copy number deletions in the SMARCB1 gene in all three patients. The tumor mutational burden was relatively low, ranging from 1.35 to 4.33. Additionally, two tumors exhibited fusion mutations involving PPP6R3::FHDC1 and MYH9::MYH6, while no fusions involving EWSR1, NR4A3, or FUS were detected.

Conclusions: This study reports the first comprehensive genomic analysis of three patients with MELTVR, potentially identifying therapeutic targets for this rare tumor.

查看原文本刊更多论文

外阴区肌上皮瘤样肿瘤的病理和基因组特征：三例报告。

背景：外阴肌上皮瘤样肿瘤是一种罕见的软组织间质肿瘤。虽然MELTVR表现出与软组织肌上皮性肿瘤相似的组织学特征，但其免疫组织化学和遗传特征有显著差异。到目前为止，还没有对这种肿瘤进行全面的基因组分析。病例介绍：我们介绍了三例MELTVR患者的临床病理特征、影像学特征和免疫表型，以及通过高通量测序对其基因组特征的描述。免疫组化分析显示，这些肿瘤的SMARCB1、S-100、CD34、CD31、SMA、Desmin和Keratin均为阴性。肿瘤细胞的Ki-67增殖指数为10% ~ 35%。基因组分析显示，所有三名患者的SMARCB1基因拷贝数缺失。肿瘤突变负荷相对较低，在1.35 ~ 4.33之间。此外，两种肿瘤表现出涉及PPP6R3::FHDC1和MYH9::MYH6的融合突变，而未检测到涉及EWSR1、NR4A3或FUS的融合突变。结论：本研究首次对3例MELTVR患者进行了全面的基因组分析，可能确定了这种罕见肿瘤的治疗靶点。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Diagnostic Pathology 医学-病理学

CiteScore

4.60

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Diagnostic Pathology is an open access, peer-reviewed, online journal that considers research in surgical and clinical pathology, immunology, and biology, with a special focus on cutting-edge approaches in diagnostic pathology and tissue-based therapy. The journal covers all aspects of surgical pathology, including classic diagnostic pathology, prognosis-related diagnosis (tumor stages, prognosis markers, such as MIB-percentage, hormone receptors, etc.), and therapy-related findings. The journal also focuses on the technological aspects of pathology, including molecular biology techniques, morphometry aspects (stereology, DNA analysis, syntactic structure analysis), communication aspects (telecommunication, virtual microscopy, virtual pathology institutions, etc.), and electronic education and quality assurance (for example interactive publication, on-line references with automated updating, etc.).