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{"title":"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","authors":"Charlotte Charbel, Pamela I Causa Andrieu, Mohamed Soliman, Sungmin Woo, Junting Zheng, Marinela Capanu, Ines Nikolovski, Hebert A Vargas, Murad Abusamra, Maria I Carlo","doi":"10.1148/rycan.230063","DOIUrl":null,"url":null,"abstract":"<p><p>Purpose To investigate the prevalence of <i>FLCN, BAP1, SDH</i>, and <i>MET</i> 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 <i>FLCN, BAP1, SDH</i>, or <i>MET</i> 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: <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%. Conclusion <i>FLCN, BAP1, SDH</i>, and <i>MET</i> 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%. <b>Keywords:</b> Familial Renal Cell Carcinoma, Birt-Hogg-Dubé Syndrome, Carcinoma, Renal Cell, Paragangliomas, Urinary, Kidney © RSNA, 2024.</p>","PeriodicalId":20786,"journal":{"name":"Radiology. Imaging cancer","volume":"6 2","pages":"e230063"},"PeriodicalIF":5.6000,"publicationDate":"2024-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10988346/pdf/","citationCount":"0","resultStr":"{\"title\":\"The Prevalence and Radiologic Features of Renal Cancers Associated with <i>FLCN, BAP1, SDH</i>, and <i>MET</i> Germline Mutations.\",\"authors\":\"Charlotte Charbel, Pamela I Causa Andrieu, Mohamed Soliman, Sungmin Woo, Junting Zheng, Marinela Capanu, Ines Nikolovski, Hebert A Vargas, Murad Abusamra, Maria I Carlo\",\"doi\":\"10.1148/rycan.230063\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Purpose To investigate the prevalence of <i>FLCN, BAP1, SDH</i>, and <i>MET</i> 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 <i>FLCN, BAP1, SDH</i>, or <i>MET</i> 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: <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%. Conclusion <i>FLCN, BAP1, SDH</i>, and <i>MET</i> 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%. <b>Keywords:</b> Familial Renal Cell Carcinoma, Birt-Hogg-Dubé Syndrome, Carcinoma, Renal Cell, Paragangliomas, Urinary, Kidney © RSNA, 2024.</p>\",\"PeriodicalId\":20786,\"journal\":{\"name\":\"Radiology. Imaging cancer\",\"volume\":\"6 2\",\"pages\":\"e230063\"},\"PeriodicalIF\":5.6000,\"publicationDate\":\"2024-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10988346/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Radiology. Imaging cancer\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1148/rycan.230063\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Radiology. Imaging cancer","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1148/rycan.230063","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ONCOLOGY","Score":null,"Total":0}
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