Moch Holger, Ohashi Riuko, Gandhi Jatin S, Amin Mahul B
Department of Pathology and Molecular Pathology, University and University Hospital Zurich, Switzerland.
Histopathology Core Facility, Niigata University Faculty of Medicine, Niigata, Japan; Division of Molecular and Diagnostic Pathology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
Semin Diagn Pathol. 2018 May;35(3):184-192. doi: 10.1053/j.semdp.2018.01.005. Epub 2018 Feb 14.
An important emerging role of the surgical pathologist besides the traditional tasks of establishment of the diagnosis and documentation of prognostic and predictive factors, is to recognize the possibility of a hereditary condition in cases where the histology is suggestive for a familial cancer syndrome. In recent years, the knowledge regarding all of the above roles, including the role of recognition of familial cancer, has particularly expanded in renal neoplasms with the close scrutiny to morphology, molecular correlates and clinical features of the different sub-types of renal cell carcinoma. Awareness of these clinically distinctive sub-types and their associated histologic clues will prompt the pathologist for further immunohistochemical or molecular work up, to look for clinical information to support the suspected diagnosis of familial cancer, to alert managing physician/s to look for stigmata of history of familial cancer, which will permit triaging patients and their families for appropriate genetic counseling. This review provides a comprehensive review of the known sub-types of renal cell carcinoma that have a predilection to occur in the setting of hereditary disease; examples include renal cancers occurring in the background of von Hippel Lindau disease, hereditary leiomyomatosis and renal cell carcinoma syndrome, tuberous sclerosis, Birt Hogg Dube syndrome and succinate dehydrogenase deficiency. Herein we focus on diagnostic clues for renal tumors occurring in a non-pediatric setting that should prompt their correct recognition and reiterate the importance of the correct diagnosis.
除了进行传统的诊断以及记录预后和预测因素外，外科病理学家的一个重要新职责是，在组织学提示为家族性癌症综合征的病例中，识别遗传性疾病的可能性。近年来，随着对肾细胞癌不同亚型的形态学、分子相关性和临床特征的密切研究，关于上述所有职责（包括识别家族性癌症的职责）的知识在肾肿瘤领域尤其得到了扩展。了解这些临床特征明显的亚型及其相关的组织学线索，将促使病理学家进一步进行免疫组织化学或分子检测，寻找临床信息以支持家族性癌症的疑似诊断，提醒主治医生留意家族性癌症病史的体征，从而对患者及其家属进行分类以便提供适当的遗传咨询。本综述全面回顾了已知的、易在遗传性疾病背景下发生的肾细胞癌亚型；例如，发生在冯·希佩尔-林道病、遗传性平滑肌瘤病和肾细胞癌综合征、结节性硬化症、Birt-Hogg-Dube综合征以及琥珀酸脱氢酶缺乏症背景下的肾癌。在此，我们重点关注非儿科环境中发生的肾肿瘤的诊断线索，这些线索应能促使对其进行正确识别，并再次强调正确诊断的重要性。
