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Cytologic diagnosis of fumarate hydratase-deficient renal cell carcinoma: A single-institutional experience.
Cancer Cytopathol
February 2025
Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.
Background: Fumarate hydratase-deficient renal cell carcinoma (FHRCC) is an aggressive carcinoma that typically presents as advanced-stage disease. Prompt recognition of FHRCC is critical for appropriate clinical care and genetic counseling for patients and family members. However, diagnosing FHRCC from cytology specimens is challenging, with limited characterization and no reports describing prospectively identified cases.
View Article and Find Full Text PDFFumarate Hydratase-Deficient Renal Cell Carcinoma With Paraganglioma Detected on 18F-FDG PET/CT.
Clin Nucl Med
December 2024
Nuclear Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China.
We report FDG PET/CT findings of fumarate hydratase-deficient renal cell carcinoma coincidence with para-aortic paraganglioma in a 27-year-old man. He presented with painless gross hematuria for 3 days. CT identified an enhancing lesion in the left kidney, suggestive of a tumor.
View Article and Find Full Text PDFA rare case of FH-deficient renal cell carcinoma with signet ring cells features.
Diagn Pathol
December 2024
Shenzhen Hospital, National Cancer Center, National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen, China.
Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a clinically aggressive tumor with high rates of progression and mortality. A wide range of morphological variations has been observed in FH-deficient RCC, initially described as type 2 papillary RCC or unclassified RCC. Here, we report a case of FH-deficient RCC with rare signet ring cells features.
View Article and Find Full Text PDFFumarate Hydratase-Deficient Leiomyoma with Double Mutation Sites in the FH : A Rare Case Report and Literature Review.
Int J Womens Health
December 2024
Department of Oncology, Xiangyang No. 1 People's Hospital, Hubei University of Medicine, Xiangyang, 441000, People's Republic of China.
Background: Fumarate Hydratase (FH)-deficient uterine leiomyomas are a rare type of uterine fibroid associated with somatic or germline mutations in the FH gene. Herein, we report a case of FH-deficient uterine leiomyoma with a double-site mutation of in a 41-year-old woman.
Case Presentation: The woman was found to have an intrauterine mass during a routine physical examination two years prior.
Fumarate hydratase-deficient renal cell carcinoma: A case report and review of literature.
Asian J Surg
December 2024
Qingdao Municipal Hospital, Qingdao University, No.5, Donghai Middle Road, Shinan District, Qingdao, Shandong, 266001, China. Electronic address:
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