[Consensus on clinical diagnosis and treatment of fumarate hydratase-deficient renal cell carcinoma].

Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is an independent pathological subtype of renal cell carcinoma with a clear driver gene and a high degree of malignancy. Recent studies have found that patients with somatic FH mutations have similar clinico-biological behavior and poor prognosis to patients with germline FH mutations. FH-RCC has the characteristics of early age of onset, atypical imaging manifestations, variable pathological patterns, difficult clinical diagnosis and poor effect on traditional drug treatment, thus greatly endangering the life and health of patients. Under the organization of the Rare Kidney Cancer Collaborative Group, Genitourinary Cancer Committee, China Anti-Cancer Association, this guideline was developed based on basic research, clinical cohort and evidence-based medicine evidence, including imaging manifestations, pathological diagnosis, genetic testing, surgical and systemic treatment options, and provided recommendations and references for the diagnosis and treatment norms.延胡索酸水合酶缺失性肾细胞癌（FH-RCC）是一种驱动基因明确的高度恶性的独立肾细胞癌病理学亚型，由FH胚系或体系突变导致。FH-RCC发病年龄早、影像学表现不典型、病理学形态多变，临床诊断困难，且传统药物治疗效果不佳，对患者健康造成极大威胁。中国抗癌协会泌尿男生殖系肿瘤专业委员会少见肾癌协作组总结现有工作基础，汇总国内外相关研究进展，基于基础研究、临床队列和循证医学证据制定本共识，包括疾病影像学表现、病理学诊断、基因检测、手术与系统治疗选择，为该疾病的诊治提出建议和参考。.