PDF(Pubmed)
Abstract：
Purpose To investigate the prevalence of FLCN, BAP1, SDH, and MET mutations in an oncologic cohort and determine the prevalence, clinical features, and imaging features of renal cell carcinoma (RCC) associated with these mutations. Secondarily, to determine the prevalence of encountered benign renal lesions. Materials and Methods From 25 220 patients with cancer who prospectively underwent germline analysis with a panel of more than 70 cancer-predisposing genes from 2015 to 2021, patients with FLCN, BAP1, SDH, or MET mutations were retrospectively identified. Clinical records were reviewed for patient age, sex, race/ethnicity, and renal cancer diagnosis. If RCC was present, baseline CT and MRI examinations were independently assessed by two radiologists. Summary statistics were used to summarize continuous and categorical variables by mutation. Results A total of 79 of 25 220 (0.31%) patients had a germline mutation: FLCN, 17 of 25 220 (0.07%); BAP1, 22 of 25 220 (0.09%); SDH, 39 of 25 220 (0.15%); and MET, one of 25 220 (0.004%). Of these 79 patients, 18 (23%) were diagnosed with RCC (FLCN, four of 17 [24%]; BAP1, four of 22 [18%]; SDH, nine of 39 [23%]; MET, one of one [100%]). Most hereditary RCCs demonstrated ill-defined margins, central nonenhancing area (cystic or necrotic), heterogeneous enhancement, and various other CT and MR radiologic features, overlapping with the radiologic appearance of nonhereditary RCCs. The prevalence of other benign solid renal lesions (other than complex cysts) in patients was up to 11%. Conclusion FLCN, BAP1, SDH, and MET mutations were present in less than 1% of this oncologic cohort. Within the study sample size limits, imaging findings for hereditary RCC overlapped with those of nonhereditary RCC, and the prevalence of other associated benign solid renal lesions (other than complex cysts) was up to 11%. Keywords: Familial Renal Cell Carcinoma, Birt-Hogg-Dubé Syndrome, Carcinoma, Renal Cell, Paragangliomas, Urinary, Kidney © RSNA, 2024.
摘要：
目的调查FLCN的患病率,BAP1,SDH,和肿瘤队列中的MET突变，并确定患病率，临床特征,与这些突变相关的肾细胞癌（RCC）的影像学特征。其次，以确定所遇到的良性肾脏病变的患病率。材料和方法从2015年至2021年，来自25220名癌症患者，他们前瞻性地接受了一组70多个癌症易感基因的种系分析，BAP1,SDH,或对MET突变进行回顾性鉴定.对患者年龄的临床记录进行了审查，性别,种族/民族,和肾癌诊断。如果存在RCC,基线CT和MRI检查由两名放射科医师独立评估。摘要统计用于通过突变总结连续变量和分类变量。结果25220例患者中79例(0.31%)存在种系突变:FLCN,25220中的17个（0.07%）；BAP1，25220中的22个（0.09%）；SDH，25220中的39个(0.15%)；和MET，25220之一（0.004%）。在这79名患者中，18例（23%）被诊断为RCC（FLCN，17个中的四个[24%]；BAP1，22个中的四个[18%]；SDH，39人中有9人[23%]；MET，一个[100%])。大多数遗传性RCC表现出不明确的边缘，中央非强化区（囊性或坏死），异质增强，以及各种其他CT和MR放射学特征，与非遗传性RCC的放射学外观重叠。患者中其他良性实性肾脏病变（复杂囊肿除外）的患病率高达11％。结论FLCN,BAP1,SDH,在该肿瘤队列中,MET突变的发生率不到1%.在研究样本量限制内，遗传性肾细胞癌的影像学表现与非遗传性肾细胞癌的影像学表现重叠，其他相关良性实性肾脏病变（复杂囊肿除外）的患病率高达11%。关键词：家族性肾细胞癌，Birt-Hogg-Dubé综合征,癌,肾细胞,副神经节瘤,尿路,肾脏©RSNA，2024.
