与 FLCN、BAP1、SDH 和 MET 基因突变相关的肾癌的患病率和放射学特征

IF 5.6 Q1 ONCOLOGY Radiology. Imaging cancer Pub Date : 2024-03-01 DOI:10.1148/rycan.230063
Charlotte Charbel, Pamela I Causa Andrieu, Mohamed Soliman, Sungmin Woo, Junting Zheng, Marinela Capanu, Ines Nikolovski, Hebert A Vargas, Murad Abusamra, Maria I Carlo
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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: <i>FLCN</i>, 17 of 25 220 (0.07%); <i>BAP1</i>, 22 of 25 220 (0.09%); <i>SDH</i>, 39 of 25 220 (0.15%); and <i>MET</i>, one of 25 220 (0.004%). Of these 79 patients, 18 (23%) were diagnosed with RCC (<i>FLCN</i>, four of 17 [24%]; <i>BAP1</i>, four of 22 [18%]; <i>SDH</i>, nine of 39 [23%]; <i>MET</i>, 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%. 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引用次数: 0

摘要

目的 调查肿瘤学队列中FLCN、BAP1、SDH和MET突变的发生率,并确定与这些突变相关的肾细胞癌(RCC)的发生率、临床特征和影像学特征。其次,确定所遇到的肾脏良性病变的患病率。材料与方法 从 2015 年至 2021 年期间对 25 220 名癌症患者进行了前瞻性种系分析,分析了 70 多个癌症易感基因,并回顾性地确定了 FLCN、BAP1、SDH 或 MET 基因突变的患者。对患者的年龄、性别、种族/民族和肾癌诊断进行了临床记录审查。如果存在 RCC,则由两名放射科医生独立评估基线 CT 和 MRI 检查结果。采用汇总统计法按突变对连续变量和分类变量进行汇总。结果 25 220 例患者中,共有 79 例(0.31%)发生了种系突变:其中,FLCN,25 220 例中有 17 例(0.07%);BAP1,25 220 例中有 22 例(0.09%);SDH,25 220 例中有 39 例(0.15%);MET,25 220 例中有 1 例(0.004%)。在这 79 例患者中,18 例(23%)被诊断为 RCC(FLCN,17 例中的 4 例 [24%];BAP1,22 例中的 4 例 [18%];SDH,39 例中的 9 例 [23%];MET,1 例中的 1 例 [100%])。大多数遗传性 RCC 表现为边缘不清、中央无强化区(囊性或坏死)、异质强化以及各种其他 CT 和 MR 放射学特征,与非遗传性 RCC 的放射学表现重叠。患者中其他良性肾实体病变(复杂囊肿除外)的发病率高达 11%。结论 在这组肿瘤患者中,FLCN、BAP1、SDH和MET突变的比例不到1%。在研究样本量限制范围内,遗传性RCC的成像结果与非遗传性RCC的成像结果重叠,其他相关良性实体肾病变(复杂囊肿除外)的发病率高达11%。关键词: 家族性肾细胞癌家族性肾细胞癌 Birt-Hogg-Dubé 综合征 癌症 肾细胞 副神经节瘤 泌尿 肾脏 © RSNA, 2024.
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The Prevalence and Radiologic Features of Renal Cancers Associated with FLCN, BAP1, SDH, and MET Germline Mutations.

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.

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