Rhabdomyosarcoma: Updates on classification and the necessity of molecular testing beyond immunohistochemistry

IF 2.7 2区医学 Q2 PATHOLOGY

Human pathology Pub Date : 2024-05-01 DOI:10.1016/j.humpath.2023.12.004

Carina A. Dehner , Erin R. Rudzinski , Jessica L. Davis

{"title":"Rhabdomyosarcoma: Updates on classification and the necessity of molecular testing beyond immunohistochemistry","authors":"Carina A. Dehner , Erin R. Rudzinski , Jessica L. Davis","doi":"10.1016/j.humpath.2023.12.004","DOIUrl":null,"url":null,"abstract":"<div>Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and adolescents under the age of 20. The current World Health Organization (WHO) classification for soft tissue and bone tumors recognizes 4 distinct subtypes of RMS based on clinicopathological and molecular genetic features: embryonal, alveolar, spindle cell/sclerosing and pleomorphic subtypes. However, with the increased use of molecular techniques, the classification of rhabdomyosarcoma has been evolving rapidly. New subtypes such as osseus RMS harboring TFCP2/NCOA2 fusions or RMS arising in inflammatory rhabdomyoblastic tumor have been emerging within the last decade, adding to the complexity of diagnosing skeletal muscle tumors. This review article provides an overview of classically recognized distinctive subtypes as well as new, evolving subtypes and discusses important morphologic, immunophenotypic and molecular genetic features of each subtype including recommendations for a diagnostic approach of malignant skeletal muscle neoplasms.</div>","PeriodicalId":13062,"journal":{"name":"Human pathology","volume":"147 ","pages":"Pages 72-81"},"PeriodicalIF":2.7000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Human pathology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S0046817723002514","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"PATHOLOGY","Score":null,"Total":0}

引用次数: 0

Abstract

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children and adolescents under the age of 20. The current World Health Organization (WHO) classification for soft tissue and bone tumors recognizes 4 distinct subtypes of RMS based on clinicopathological and molecular genetic features: embryonal, alveolar, spindle cell/sclerosing and pleomorphic subtypes. However, with the increased use of molecular techniques, the classification of rhabdomyosarcoma has been evolving rapidly. New subtypes such as osseus RMS harboring TFCP2/NCOA2 fusions or RMS arising in inflammatory rhabdomyoblastic tumor have been emerging within the last decade, adding to the complexity of diagnosing skeletal muscle tumors. This review article provides an overview of classically recognized distinctive subtypes as well as new, evolving subtypes and discusses important morphologic, immunophenotypic and molecular genetic features of each subtype including recommendations for a diagnostic approach of malignant skeletal muscle neoplasms.

查看原文本刊更多论文

横纹肌肉瘤：除免疫组化外的最新分类和分子检测的必要性。

横纹肌肉瘤（RMS）是 20 岁以下儿童和青少年最常见的软组织肉瘤。目前世界卫生组织（WHO）根据临床病理学和分子遗传学特征对软组织和骨肿瘤进行分类，确认了横纹肌肉瘤的 4 个不同亚型：胚胎型、肺泡型、纺锤形细胞/硬化型和多形性亚型。然而，随着分子技术应用的增多，横纹肌肉瘤的分类也在迅速发展。在过去十年中出现了一些新的亚型，如携带TFCP2/NCOA2融合的骨横纹肌肉瘤或在炎性横纹肌母细胞瘤中出现的横纹肌肉瘤，从而增加了诊断骨骼肌肿瘤的复杂性。这篇综述文章概述了经典公认的独特亚型以及不断发展的新亚型，并讨论了每种亚型的重要形态学、免疫表型和分子遗传学特征，包括对恶性骨骼肌肿瘤诊断方法的建议。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Human pathology 医学-病理学

CiteScore

5.30

自引率

6.10%

发文量

206

审稿时长

21 days

期刊介绍： Human Pathology is designed to bring information of clinicopathologic significance to human disease to the laboratory and clinical physician. It presents information drawn from morphologic and clinical laboratory studies with direct relevance to the understanding of human diseases. Papers published concern morphologic and clinicopathologic observations, reviews of diseases, analyses of problems in pathology, significant collections of case material and advances in concepts or techniques of value in the analysis and diagnosis of disease. Theoretical and experimental pathology and molecular biology pertinent to human disease are included. This critical journal is well illustrated with exceptional reproductions of photomicrographs and microscopic anatomy.