ArticleCancer imaging : the official publication of the International Cancer Imaging Society2021
Imaging features of fumarate hydratase-deficient renal cell carcinomas: a retrospective study.
Article in Cancer imaging : the official publication of the International Cancer Imaging Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19 citing papers in PubMed, 31 citations in OpenAlex.
- Renal Medullary Carcinoma: Utility of [Journal of nuclear medicine : official publication, Society of Nuclear Medicine · 2026Article
- Staging and imaging-based prognostication in renal cell carcinoma: current guidelines and practical considerations.Abdominal radiology (New York) · 2026Review
- Imaging findings in fumarate hydratase-deficient renal cell carcinoma: a case series of 11 patients.Abdominal radiology (New York) · 2026Article
- Hereditary syndromes and RCC: what radiologists need to know.Abdominal radiology (New York) · 2026Review
- Characterization of complex renal cysts in hereditary leiomyomatosis and renal cell cancerUsing magnetic resonance based qualitative features.Abdominal radiology (New York) · 2026Article
- Lineage infidelity in FH-deficient RCC with secondary somatic alterations: a case report and implications for diagnosis and treatment.Therapeutic advances in medical oncology · 2026Article
- Case Report: A patient with metastatic fumarate hydratase-deficient renal cell carcinoma associated with leiomyomatosis: real-world clinical insights on systemic therapy and liver-directed SBRT.Frontiers in oncology · 2026Article
- Advances in renal cancer: diagnosis, treatment, and emerging technologies.La Radiologia medica · 2025Review
- Metabolic tumor parameters onAnnals of nuclear medicine · 2025Article
- Role ofJapanese journal of radiology · 2025Review
- Diagnosis of Hereditary Leiomyomatosis and Renal Cell Cancer After Subcapsular Renal Hematoma.IJU case reports · 2025Article
- The Prevalence and Radiologic Features of Renal Cancers Associated withRadiology. Imaging cancer · 2024Article
- Article
- Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Syndrome.Journal of the Belgian Society of Radiology · 2024Article
- Clinical Characteristics of Molecularly Defined Renal Cell Carcinomas.Current issues in molecular biology · 2023Review
- Role of ultra-high b-value DWI in the imaging of hereditary leiomyomatosis and renal cell carcinoma (HLRCC).Abdominal radiology (New York) · 2023Article
- Review
- Case report: Ultrasonographic findings of retroperitoneum and abdominal wall metastases of renal cell carcinoma with FH gene deletion.Frontiers in oncology · 2022Article
- Multidetector CT Characteristics of Fumarate Hydratase-Deficient Renal Cell Carcinoma and Papillary Type II Renal Cell Carcinoma.Korean journal of radiology · 2021Article
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Abstract
backgoundFumarate 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.
methodsThis 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.
resultsSixteen patients with sixteen tumors were included (median age 46 years, interquartile range 38-53 years; 31 % female). Almost all tumors were unifocal (15/16, 94 %). Most tumors had infiltrative margins (14/16, 88 %); few were circumscribed (2/16, 12 %). A large cystic tumor component (> 75 % of tumor volume) was seen in 8/16 (50 %) of tumors. Involvement of renal sinus fat was seen in 13/16 (81 %) of tumors, involvement of the hilar collecting system in 8/16 (50 %), and renal vein tumor thrombus in 6/16 (38 %). All 12 tumors (100 %) imaged with MRI had heterogenous tumor enhancement and heterogenous T2 signal. Of those patients that had diffusion-weighted imaging, 11/11 (100 %) of tumors had diffusion restriction in the solid portions of the tumor. Of the patients who had PET, 3/3 (100 %) tumors showed high metabolic activity with mean maximum standardized uptake value (SUV
conclusionsIn our study, the majority of tumors (≥ 75 %) 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.
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