Unraveling Round Cell Sarcomas: A Contemporary Diagnostic Guide Beyond Ewing Sarcoma

IF 6.6 1区医学 Q1 PATHOLOGY

Modern Pathology Pub Date : 2026-01-01 Epub Date: 2025-10-13 DOI:10.1016/j.modpat.2025.100914

Raul Ezequiel Perret

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引用次数: 0

Abstract

Round cell sarcomas represent a continuously evolving category of malignant mesenchymal tumors, currently encompassing 5 main tumor subtypes: Ewing sarcoma, Capicua Transcriptional Repressor (CIC)–rearranged sarcoma, sarcomas with BCL6-corepressor (BCOR)-genetic abnormalities, POZ/BTB and AT hook containing zinc finger 1 (PATZ1)-rearranged sarcoma, and nuclear factor of activated T cells 2 (NFATC2)-rearranged sarcoma. These tumors show some degree of histomorphologic overlap, which, coupled with their infrequency, may render their diagnosis challenging for the pathologist. Furthermore, although ancillary techniques like immunohistochemistry and molecular tests can be of diagnostic aid, they are still limited by inherent sensitivity and specificity issues and cannot replace meticulous integration of clinical and radiologic findings. This review is focused on (1) providing a guide for tackling the diagnosis of round cell sarcomas and their mimics using an integrative approach combining demographics, clinicoradiologic data, histomorphology, and ancillary techniques and (2) detailing the most recent information on round cell sarcomas from the latest World Health Organization classification of Bone and Soft Tissue Tumors (fifth edition).

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解开圆细胞肉瘤：超越尤因肉瘤的当代诊断指南。

圆细胞肉瘤是一种不断进化的恶性间质肿瘤，目前主要包括5种肿瘤亚型：Ewing肉瘤、cic重排肉瘤、bco基因异常肉瘤、patz1重排肉瘤和nfatc2重排肉瘤。这些肿瘤表现出一定程度的组织形态重叠，再加上它们的罕见性，可能使病理学家的诊断具有挑战性。此外，虽然免疫组织化学和分子测试等辅助技术可以作为诊断辅助，但它们仍然受到固有敏感性和特异性问题的限制，不能取代临床和放射检查结果的细致整合。这篇综述的重点是：1)使用结合人口统计学、临床放射学数据、组织形态学和辅助技术的综合方法为解决圆细胞肉瘤及其模拟物的诊断提供指南，以及2)详细介绍最新的WHO骨和软组织肿瘤分类（第5版）中关于圆细胞肉瘤的最新信息。

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

Modern Pathology 医学-病理学

CiteScore

14.30

自引率

2.70%

发文量

174

审稿时长

18 days

期刊介绍： Modern Pathology, an international journal under the ownership of The United States & Canadian Academy of Pathology (USCAP), serves as an authoritative platform for publishing top-tier clinical and translational research studies in pathology. Original manuscripts are the primary focus of Modern Pathology, complemented by impactful editorials, reviews, and practice guidelines covering all facets of precision diagnostics in human pathology. The journal's scope includes advancements in molecular diagnostics and genomic classifications of diseases, breakthroughs in immune-oncology, computational science, applied bioinformatics, and digital pathology.