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Prospective Fumarate Hydratase Tumor Predisposition Syndrome Screening in Patients With Uterine Smooth Muscle Tumors: Age, Morphology, Fumarate Hydratase/S-(2-succino) Cysteine Immunohistochemistry, and Germline Testing.
Am J Surg Pathol
January 2025
Department of Pathology and Laboratory Medicine, The University of British Columbia, Vancouver BC, Canada.
Fumarate hydratase tumor predisposition syndrome (FHTPS) is caused by germline fumarate hydratase (FH) pathogenic variants (PVs). Most women with FHTPS develop FH-deficient (FHD) uterine leiomyomas (ULs), which arise 10 to 15 years earlier than aggressive FHD-renal cell carcinoma. We evaluate a previously proposed FHTPS screening strategy for women with ULs.
View Article and Find Full Text PDFHereditary leiomyomatosis and renal cell cancer (HLRCC), pheochromocytoma (PCC)/paraganglioma (PGL) and germline fumarate hydratase (FH) variants.
Endocrinol Diabetes Metab Case Rep
October 2024
Summary: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant condition characterized by multiple cutaneous and uterine leiomyomas and renal cell cancer (RCC). HLRCC is caused by germline pathogenic/likely pathogenic (P/LP) variants in the fumarate hydratase (FH) gene on chromosome 1q42.3, encoding the mitochondrial enzyme responsible for the conversion of fumarate to malate in the Krebs cycle.
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 renal cell carcinoma: a single institution-based study of 29 patients by clinicopathological, immunohistochemical and genetic approaches.
Pathology
February 2025
Department of Pathology, Seoul National University College of Medicine, Seoul, Republic of Korea; Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:
Fumarate hydratase (FH)-deficient renal cell carcinoma (RCC) is a renal neoplasm associated with FH loss, aggressive behaviour, and poor survival. We present a histopathological and immunohistochemical overview of FH-deficient RCC to infer significant features for its differential diagnosis. In this study, FH-deficient RCC tissue samples from patients who underwent surgical resection or biopsy at a single institution between July 1995 and August 2022 were reviewed by conventional haematoxylin and eosin staining, immunohistochemistry, and whole genome analyses.
View Article and Find Full Text PDFUpdate on cancer screening in children with syndromes of bone lesions, hereditary leiomyoma and renal cell carcinoma syndrome, and other rare syndromes.
Clin Cancer Res
November 2024
National Cancer Institute, Bethesda, MD, United States.
The management of children with syndromes associated with an increased risk of benign and malignant neoplasms is a complex challenge for healthcare professionals. The 2023 AACR Childhood Cancer Predisposition Workshop provided updated consensus guidelines on cancer surveillance in these syndromes, aiming to improve early detection, intervention, and reduce morbidity associated with such neoplasms. In this paper, we review several of the rare conditions discussed in this workshop.
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