{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T06:02:30Z","timestamp":1781848950742,"version":"3.54.5"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,2,19]],"date-time":"2021-02-19T00:00:00Z","timestamp":1613692800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,2,19]],"date-time":"2021-02-19T00:00:00Z","timestamp":1613692800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["NIH\/NCI Cancer Center Support Grant P30 CA008748"],"award-info":[{"award-number":["NIH\/NCI Cancer Center Support Grant P30 CA008748"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cancer Imaging"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Backgound<\/jats:title>\n                <jats:p>Fumarate hydratase-deficient renal cell carcinoma (FH-RCC) is a subtype of RCC that is increasingly recognized pathologically. The aim of this study was to evaluate the imaging features of FH-RCC on computed tomography (CT), magnetic resonance imaging (MRI), and fluorodeoxyglucose positron emission tomography (FDG PET), and to determine the pre-operative diagnostic potential of imaging.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>This single-site retrospective study included patients with histologically confirmed FH-RCC or with a renal cancer and known germline FH mutation; imaging of the renal mass before treatment with contrast-enhanced CT, contrast-enhanced MRI, or FDG PET\/CT between October 2007 and May 2019. Clinical information, pathological data, and imaging features were analyzed and reported descriptively.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Sixteen patients with sixteen tumors were included (median age 46 years, interquartile range 38\u201353 years; 31\u2009% female). Almost all tumors were unifocal (15\/16, 94\u2009%). Most tumors had infiltrative margins (14\/16, 88\u2009%); few were circumscribed (2\/16, 12\u2009%). A large cystic tumor component (&gt;\u200975\u2009% of tumor volume) was seen in 8\/16 (50\u2009%) of tumors. Involvement of renal sinus fat was seen in 13\/16 (81\u2009%) of tumors, involvement of the hilar collecting system in 8\/16 (50\u2009%), and renal vein tumor thrombus in 6\/16 (38\u2009%). All 12 tumors (100\u2009%) imaged with MRI had heterogenous tumor enhancement and heterogenous T2 signal. Of those patients that had diffusion-weighted imaging, 11\/11 (100\u2009%) of tumors had diffusion restriction in the solid portions of the tumor. Of the patients who had PET, 3\/3 (100\u2009%) tumors showed high metabolic activity with mean maximum standardized uptake value (SUV<jats:sub>max<\/jats:sub>) of 16.4 (range 9.6\u201321.9). Patients presented with retroperitoneal nodal metastases in 69\u2009% of cases and distant metastases in 75\u2009%. Of those four patients without metastatic disease at presentation, three (75\u2009%) developed metastases within 4 years of diagnosis.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>In our study, the majority of tumors (\u2265\u200975\u2009%) were unifocal, had an infiltrative margin, invaded the renal sinus fat, and presented with distant metastases. On MRI, most tumors had heterogenous T2 signal and diffusion restriction in their solid components. The small number of cases that had PET imaging showed high metabolic activity.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s40644-021-00392-9","type":"journal-article","created":{"date-parts":[[2021,2,20]],"date-time":"2021-02-20T20:13:38Z","timestamp":1613852018000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":35,"title":["Imaging features of fumarate hydratase-deficient renal cell carcinomas: a retrospective study"],"prefix":"10.1186","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0690-1411","authenticated-orcid":false,"given":"Ines","family":"Nikolovski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria I.","family":"Carlo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying-Bei","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hebert Alberto","family":"Vargas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,2,19]]},"reference":[{"issue":"6","key":"392_CR1","doi-asserted-by":"publisher","first-page":"3387","DOI":"10.1073\/pnas.051633798","volume":"98","author":"V Launonen","year":"2001","unstructured":"Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, et al. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A. 2001;98(6):3387\u201392.","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"6","key":"392_CR2","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1136\/jmg.2005.036400","volume":"43","author":"HJ Lehtonen","year":"2006","unstructured":"Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, Salovaara R, Herva R, Koivisto PA, et al. Increased risk of cancer in patients with fumarate hydratase germline mutation. J Med Genet. 2006;43(6):523\u20136.","journal-title":"J Med Genet"},{"issue":"4","key":"392_CR3","doi-asserted-by":"publisher","first-page":"406","DOI":"10.1038\/ng849","volume":"30","author":"IPM Tomlinson","year":"2002","unstructured":"Tomlinson IPM, Alam NA, Rowan AJ, Barclay E, Jaeger EEM, Kelsell D, et al. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 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