Context

Hereditary cases account for about 5% of all cases of renal cell carcinoma (RCC). With advances in next-generation sequencing, several new hereditary syndromes have been described in the last few years.

Objective

To review and summarise the recent preclinical and clinical literature in hereditary renal cancer.

Evidence acquisition

A systematic review of the literature was performed in November 2018 using PubMed and OMIM databases, with an emphasis on kidney cancer, genetics and genomics, clinical criteria, and management.

Evidence synthesis

Several autosomal dominant hereditary RCC syndromes have been described, including those related to germline pathogenic variants in VHL, MET, FH, TSC1/TSC2, FLCN, SDHA/B/C/D, BAP1, CDC73, and MITF. Clinical spectrum of SDH, BAP1, and MITF is still being defined, although these appear to be associated with a lower incidence of RCC. FH and likely BAP1 RCC are associated with more aggressive disease. Preclinical and clinical studies show that using systemic therapy that exploits specific genetic pathways is a promising strategy.

Conclusions

There are several well-described hereditary RCC syndromes, as well as recently identified ones, for which the full clinical spectrum is yet to be defined. In the new era of precision medicine, identification of these syndromes may play an important role in management and systemic treatment selection.

Patient summary

This review covers updates in the diagnosis and management of familial kidney cancer syndromes. We describe updates in testing and management of the most common syndromes such as von Hippel-Lindau, and hereditary leiomyomatosis and renal cell carcinoma. We also provide insights into recently described familial kidney cancer syndromes.

中文翻译：

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家族性肾癌：新综合征和分子见解的影响。

 语境

遗传性病例约占所有肾细胞癌 (RCC) 病例的 5%。随着下一代测序技术的进步，过去几年中已经描述了几种新的遗传综合征。

 客观的

回顾和总结最近遗传性肾癌的临床前和临床文献。

 证据获取

2018 年 11 月，使用 PubMed 和 OMIM 数据库对文献进行了系统回顾，重点是肾癌、遗传学和基因组学、临床标准和管理。

 证据综合

已经描述了几种常染色体显性遗传性 RCC 综合征，包括与VHL 、 MET 、 FH 、 TSC1/TSC2 、 FLCN 、 SDHA/B/C/D 、 BAP1 、 CDC73和MITF种系致病变异相关的综合征。 SDH 、 BAP1和MITF的临床谱仍在定义中，尽管这些似乎与较低的 RCC 发病率相关。 FH和可能的BAP1 RCC 与更具侵袭性的疾病相关。临床前和临床研究表明，利用特定遗传途径的系统治疗是一种有前途的策略。

 结论

There are several well-described hereditary RCC syndromes, as well as recently identified ones, for which the full clinical spectrum is yet to be defined. In the new era of precision medicine, identification of these syndromes may play an important role in management and systemic treatment selection. 

 患者总结

这篇综述涵盖了家族性肾癌综合征的诊断和治疗的最新进展。我们描述了最常见综合征（如 von Hippel-Lindau 综合征、遗传性平滑肌瘤病和肾细胞癌）的检测和管理方面的最新进展。我们还提供了对最近描述的家族性肾癌综合征的见解。