细针穿刺诊断胸壁tfe3重排PEComa（样肿瘤）1例。

IF 1 4区医学 Q4 MEDICAL LABORATORY TECHNOLOGY

Diagnostic Cytopathology Pub Date : 2025-10-04 DOI:10.1002/dc.70026

Shah Dev, Matthew Miller, Tom Hu, Cindy McGrath, Roseann I Wu

{"title":"细针穿刺诊断胸壁tfe3重排PEComa（样肿瘤）1例。","authors":"Shah Dev, Matthew Miller, Tom Hu, Cindy McGrath, Roseann I Wu","doi":"10.1002/dc.70026","DOIUrl":null,"url":null,"abstract":"We report a rare TFE3-rearranged perivascular epithelioid cell tumor (PEComa) of the parasternal chest wall diagnosed preoperatively by fine-needle aspiration (FNA) cytology. The smears and cell block showed epithelioid cells with clear to granular cytoplasm and prominent nucleoli. Immunohistochemistry (IHC) demonstrated strong nuclear TFE3 expression and melanocytic marker positivity (diffuse HMB-45, focal Melan-A) with absent smooth muscle marker staining. FISH confirmed a TFE3 rearrangement, and next-generation sequencing identified an SFPQ:TFE3 fusion. The integrated cytologic and molecular workup enabled definitive classification as a TFE3-rearranged PEComa before surgical resection. This case highlights the diagnostic utility of cytologic material for translocation-associated neoplasms and the importance of molecular subtyping for prognosis and treatment.","PeriodicalId":11349,"journal":{"name":"Diagnostic Cytopathology","volume":" ","pages":""},"PeriodicalIF":1.0000,"publicationDate":"2025-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"TFE3-Rearranged PEComa(-Like Neoplasm) of the Chest Wall Diagnosed by Fine-Needle Aspiration: A Case Report.\",\"authors\":\"Shah Dev, Matthew Miller, Tom Hu, Cindy McGrath, Roseann I Wu\",\"doi\":\"10.1002/dc.70026\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"We report a rare TFE3-rearranged perivascular epithelioid cell tumor (PEComa) of the parasternal chest wall diagnosed preoperatively by fine-needle aspiration (FNA) cytology. The smears and cell block showed epithelioid cells with clear to granular cytoplasm and prominent nucleoli. Immunohistochemistry (IHC) demonstrated strong nuclear TFE3 expression and melanocytic marker positivity (diffuse HMB-45, focal Melan-A) with absent smooth muscle marker staining. FISH confirmed a TFE3 rearrangement, and next-generation sequencing identified an SFPQ:TFE3 fusion. The integrated cytologic and molecular workup enabled definitive classification as a TFE3-rearranged PEComa before surgical resection. This case highlights the diagnostic utility of cytologic material for translocation-associated neoplasms and the importance of molecular subtyping for prognosis and treatment.\",\"PeriodicalId\":11349,\"journal\":{\"name\":\"Diagnostic Cytopathology\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2025-10-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Diagnostic Cytopathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1002/dc.70026\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"MEDICAL LABORATORY TECHNOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Diagnostic Cytopathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/dc.70026","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"MEDICAL LABORATORY TECHNOLOGY","Score":null,"Total":0}

引用次数: 0

摘要

我们报告一例罕见的胸骨旁胸壁tfe3重排血管周围上皮样细胞瘤（PEComa），术前通过细针穿刺（FNA）细胞学诊断。涂片和细胞块显示上皮样细胞，细胞质清晰至颗粒状，核仁明显。免疫组织化学（IHC）显示核TFE3表达强烈，黑素细胞标记物（弥漫性HMB-45，局灶性黑色素- a）阳性，未见平滑肌标记物染色。FISH证实了TFE3重排，下一代测序鉴定了SFPQ:TFE3融合。综合细胞学和分子检查使手术切除前明确分类为tfe3重排PEComa。本病例强调了细胞学材料对易位相关肿瘤的诊断作用，以及分子分型对预后和治疗的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

TFE3-Rearranged PEComa(-Like Neoplasm) of the Chest Wall Diagnosed by Fine-Needle Aspiration: A Case Report.

We report a rare TFE3-rearranged perivascular epithelioid cell tumor (PEComa) of the parasternal chest wall diagnosed preoperatively by fine-needle aspiration (FNA) cytology. The smears and cell block showed epithelioid cells with clear to granular cytoplasm and prominent nucleoli. Immunohistochemistry (IHC) demonstrated strong nuclear TFE3 expression and melanocytic marker positivity (diffuse HMB-45, focal Melan-A) with absent smooth muscle marker staining. FISH confirmed a TFE3 rearrangement, and next-generation sequencing identified an SFPQ:TFE3 fusion. The integrated cytologic and molecular workup enabled definitive classification as a TFE3-rearranged PEComa before surgical resection. This case highlights the diagnostic utility of cytologic material for translocation-associated neoplasms and the importance of molecular subtyping for prognosis and treatment.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Diagnostic Cytopathology 医学-病理学

CiteScore

2.60

自引率

7.70%

发文量

163

审稿时长

3-6 weeks

期刊介绍： Diagnostic Cytopathology is intended to provide a forum for the exchange of information in the field of cytopathology, with special emphasis on the practical, clinical aspects of the discipline. The editors invite original scientific articles, as well as special review articles, feature articles, and letters to the editor, from laboratory professionals engaged in the practice of cytopathology. Manuscripts are accepted for publication on the basis of scientific merit, practical significance, and suitability for publication in a journal dedicated to this discipline. Original articles can be considered only with the understanding that they have never been published before and that they have not been submitted for simultaneous review to another publication.