遗传性肾细胞癌相关疾病。

Diseases of Hereditary Renal Cell Cancers.

机构信息

VHL Comprehensive Clinical Care Center and Hemangioblastoma Center; Division of Hematology-Oncology, Department of Medicine, Massachusetts General Hospital; Center for Cancer Research, Massachusetts General Hospital Cancer Center, 149 13th Street, Charlestown, MA 02129, USA; Harvard Medical School, Boston, MA, USA.

出版信息

Urol Clin North Am. 2023 May;50(2):205-215. doi: 10.1016/j.ucl.2023.01.010.

DOI:10.1016/j.ucl.2023.01.010

PMID:36948667

Abstract

Germline mutations in tumor suppressor genes and oncogenes lead to hereditary renal cell carcinoma (HRCC) diseases, characterized by a high risk of RCC and extrarenal manifestations. Patients of young age, those with a family history of RCC, and/or those with a personal and family history of HRCC-related extrarenal manifestations should be referred for germline testing. Identification of a germline mutation will allow for testing of family members at risk, as well as personalized surveillance programs to detect the early onset of HRCC-related lesions. The latter allows for more targeted and therefore more effective therapy and better preservation of renal parenchyma.

摘要

肿瘤抑制基因和癌基因的种系突变导致遗传性肾细胞癌（HRCC）疾病，其特征是肾细胞癌（RCC）和肾外表现的风险较高。年龄较小的患者、有 RCC 家族史的患者和/或有 HRCC 相关肾外表现个人和家族史的患者应进行种系检测。种系突变的鉴定将允许对有风险的家庭成员进行检测，并制定个性化的监测计划以检测 HRCC 相关病变的早期发生。后者可以进行更有针对性的治疗，从而更有效地治疗并更好地保留肾实质。