YAP1::TFE3融合1例恶性TFE3重排肺PEComa：扩大肺PEComa样间充质肿瘤的谱

IF 3.4 3区医学 Q1 PATHOLOGY

Virchows Archiv Pub Date : 2025-01-03 DOI:10.1007/s00428-024-04016-y

Ying-Han R Hsu, Shamini Selvarajah, Prodipto Pal, Thomas K Waddell

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引用次数: 0

摘要

PEComa家族包括一组具有肌黑素细胞分化的异质性相关间充质肿瘤，其中一个独特的亚群以TFE3基因重排为特征。复发性YAP1::TFE3融合已在肺透明细胞间质瘤（CCST-L）中发现，最近在两例炎症梭形细胞PEComa中发现。然而，CCST-L与PEComa之间的潜在关系尚不清楚。在此，我们报告一例原发性肺部恶性TFE3重排PEComa，具有典型的形态学和免疫组织化学特征，出乎意料地包含YAP1::TFE3融合。我们的发现进一步扩大了肺pecoma样间充质肿瘤的形态学和分子谱。

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YAP1::TFE3 fusion in a case of malignant TFE3-rearranged PEComa of the lung: expanding the spectrum of pulmonary PEComa-like mesenchymal neoplasms.

The family of PEComa encompasses a heterogeneous group of related mesenchymal neoplasms with myomelanocytic differentiation, a distinctive subset of which is characterized by TFE3 gene rearrangement. Recurrent YAP1::TFE3 fusion has been found in clear cell stromal tumor of the lung (CCST-L), and most recently, in two cases classified as inflammatory spindle cell PEComa. However, the potential relationship between CCST-L and PEComa remains unclear. Herein, we report a case of primary pulmonary malignant TFE3-rearranged PEComa with prototypical morphological and immunohistochemical features, unexpectedly harboring YAP1::TFE3 fusion. Our findings further expanded the morphological and molecular spectrum of PEComa-like mesenchymal neoplasms of the lung.

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来源期刊

Virchows Archiv 医学-病理学

CiteScore

7.40

自引率

2.90%

发文量

204

审稿时长

4-8 weeks

期刊介绍： Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.