Department of Pathology & Laboratory Medicine, Indiana University School of Medicine, Indianapolis, IN.
Adv Anat Pathol. 2021 Jul 1;28(4):258-275. doi: 10.1097/PAP.0000000000000302.
Testicular tumors are incredibly diverse and one of the most challenging areas in surgical pathology. Because of the rarity and overlapping features with numerous entities occurring in the testis and paratestis, these tumors pose a diagnostic challenge even to the most experienced general pathologists. In 2016, the latest "World Health Organization (WHO) classification of testicular tumors" was released, which incorporated several updates to the previous 2004 classification system. These updates involved several entities, including germ cell tumors, sex cord-stromal tumors, tumors containing both germ cells and sex-cord stromal cells, a miscellaneous group of testicular tumors and paratesticular tumors. In addition, significant changes were also introduced in the 2018 AJCC TNM staging (8th edition) regarding testicular tumors. The germ cell tumors are divided into 2 major groups; tumors derived from germ cell neoplasia in situ (GCNIS) and those unrelated to GCNIS. The GCNIS associated tumors include seminomatous and nonseminomatous germ cell tumors, which constitute a heterogeneous group of tumors. Non-GCNIS-associated tumors include prepubertal-type teratoma, prepubertal yolk sac tumor, mixed prepubertal-type teratoma and yolk sac tumor and spermatocytic seminoma. In the sex cord-stromal category, the tumors are classified based on their cells of origin. Most are Leydig cell tumors and Sertoli cell tumors; however, several mixed and diverse entities based on cell types are included in this group. Gonadoblastoma is the only tumor in the mixed germ cell and sex cord-stromal tumor category. Because of recent advances in molecular techniques, abundant new genetic information has emerged which helped classify the tumors based on the molecular alterations and provided insights into the tumor pathogenesis. This review focused on the updates related to testicular germ cell tumors and sex cord-stromal tumors and described the morphologic, immunohistochemical and molecular characteristics with an aim to provide a practical diagnostic approach and an update on relevant recent molecular advances.
睾丸肿瘤种类繁多,是外科病理学中极具挑战性的领域之一。由于这些肿瘤在睾丸和副睾中罕见,且与许多实体之间存在重叠特征,即使是经验最丰富的普通病理学家也会面临诊断难题。2016 年,最新的“世界卫生组织(WHO)睾丸肿瘤分类”发布,该分类对 2004 年的分类系统进行了若干更新。这些更新涉及几个实体,包括生殖细胞肿瘤、性索-间质肿瘤、同时含有生殖细胞和性索-间质细胞的肿瘤、一组睾丸和副睾的杂类肿瘤。此外,2018 年 AJCC TNM 分期(第 8 版)也对睾丸肿瘤进行了重大修改。生殖细胞肿瘤分为 2 大类;来源于生殖细胞肿瘤原位(GCNIS)的肿瘤和与 GCNIS 无关的肿瘤。与 GCNIS 相关的肿瘤包括精原细胞瘤和非精原细胞瘤生殖细胞肿瘤,它们构成了一组异质性肿瘤。非 GCNIS 相关肿瘤包括青春期前型畸胎瘤、青春期前卵黄囊瘤、混合青春期前型畸胎瘤和卵黄囊瘤以及精原细胞瘤。在性索-间质类别中,肿瘤根据其起源细胞进行分类。大多数是 Leydig 细胞瘤和 Sertoli 细胞瘤;然而,该组中还包括基于细胞类型的几种混合和多样化实体。性腺母细胞瘤是混合生殖细胞和性索-间质肿瘤类别的唯一肿瘤。由于分子技术的最新进展,出现了大量新的遗传信息,这些信息有助于根据分子改变对肿瘤进行分类,并深入了解肿瘤的发病机制。本综述重点介绍了与睾丸生殖细胞肿瘤和性索-间质肿瘤相关的更新,并描述了形态学、免疫组织化学和分子特征,旨在提供一种实用的诊断方法,并介绍相关的最新分子进展。