Schurink B, Reyes-Múgica M, de Krijger R R
Department of Pathology, Amsterdam University Medical Centers, Location VUmc. De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
Princess Máxima Center for Pediatric Oncology, Heidelberglaan 25, 3584 CS, Utrecht, The Netherlands.
Virchows Arch. 2025 Jan;486(1):3-21. doi: 10.1007/s00428-025-04029-1. Epub 2025 Jan 23.
Germline genetic alterations and their associated cancer predisposition syndromes (CPS) are an important cause of pediatric cancer. Early recognition is of great importance for targeted surveillance, early detection, and prompt (personalized) therapeutic interventions. This review provides an overview of non-central nervous system solid pediatric tumor types, in relation to their associated CPS, with an emphasis on their histology. It serves as a guide for (pediatric) pathologists to increase their awareness of histological clues that suggest a CPS and warrant referral to the clinical geneticist.
种系基因改变及其相关的癌症易感性综合征(CPS)是儿童癌症的一个重要原因。早期识别对于靶向监测、早期检测和及时(个性化)治疗干预至关重要。本综述概述了与相关CPS有关的非中枢神经系统实体小儿肿瘤类型,重点是其组织学。它可作为(儿科)病理学家的指南,以提高他们对提示CPS并需要转诊给临床遗传学家的组织学线索的认识。