睾丸生殖细胞瘤（TGCTs）和性索间质瘤（SCSTs）是最常见的睾丸肿瘤。这类肿瘤的形态谱广泛，每组内有几种组织学亚型。睾丸肿瘤通常代表一种诊断难题，需要准确确定其生物潜能以进行风险分层和治疗选择。在精准医学时代，分子生物标志物在癌症患者管理中扮演着越来越关键的角色。鉴于某些类型的睾丸肿瘤总体稀有，生物标志物研究的进展相对缓慢。然而，近年来我们目睹了一系列重要贡献，其中包括基于组织和液体穿刺生物标志物，这些贡献源自于肿瘤病理生物学的重要发现、准确的组织病理分析、多机构研究以及特定肿瘤亚型的全基因组分子分析。在本综述中，我们概述了TGCT和SCST分子生物标志物的研究进展，重点关注具有最大临床应用潜力的标志物。在TGCTs中，发育生物学一直是理解这些肿瘤和确定临床上有用的生物标志物的关键（从经典血清肿瘤标志物到多潜能因子和371-373类簇的循环微RNA）。对于SCSTs，研究仅关注组织标志物，并且基因组全面调查最近有助于更好地理解此病名类别内罕见表型和侵袭性生物行为。若干新的生物标志物正在朝着临床实施迈进。因此，实践病理学家应该了解它们的优势和局限性，以便妥善利用它们并最大程度地发挥其临床益处。版权所有©2023 Elsevier Inc.发行。

Testicular germ cell tumors (TGCTs) and sex cord-stromal tumors (SCSTs) are the most common testicular neoplasms. The morphological spectrum of such tumors is wide, with several histological subtypes within each group. Testicular tumors often represent a diagnostic challenge, requiring proper identification of their biologic potential for accurate risk stratification and selection of therapy. In the era of precision medicine, molecular biomarkers are increasingly assuming a critical role in the management of cancer patients. Given the overall rarity of certain types of testicular neoplasms, progress in biomarker research has been relatively slow. However, in recent years we have witnessed a multitude of important contributions, including both tissue-based and liquid biopsy biomarkers, stemming from important discoveries of tumor pathobiology, accurate histopathological analysis, multi-institutional studies, and genome-wide molecular analyses of specific tumor subtypes. In this review we provide an overview of the progress in molecular biomarkers of TGCTs and SCSTs, focusing on those with greatest potential for clinical application. In TGCTs, developmental biology has been the key to understanding these tumors and identifying clinically useful biomarkers (from classical serum tumor markers to pluripotency factors and circulating microRNAs of the 371-373 cluster). For SCSTs, studies have focused on tissue biomarkers only, and genome-wide investigations have recently contributed to a better understanding of rare phenotypes and aggressive biological behavior of tumors within this nosologic category. Several new biomarkers are moving towards clinical implementation in this field. Therefore, the practicing pathologist should be aware of their strengths and limitations in order to utilize them properly and maximize their clinical benefits.Copyright © 2023. Published by Elsevier Inc.