Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation
Sign Up to like & getrecommendations! Published in 2018 at "Virchows Archiv"
DOI: 10.1007/s00428-018-2420-3
Abstract: Renal cell carcinoma (RCC) accounts for 2–3% of all malignant disease in adults. Hereditary RCC represents 5 to 8% of kidney tumors. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) represents an autosomal dominant syndrome that… read more here.
Keywords: cell carcinoma; renal cell; hlrcc; hereditary leiomyomatosis ... See more keywords
Abstract 4280: FH (rs367543046, chr1:241661227 A/ATTT) heterozygous carrier status does not confer risk to hereditary leiomyomatosis and renal cell cancer (HLRCC) and prostate cancer
Sign Up to like & getrecommendations! Published in 2017 at "Cancer Research"
DOI: 10.1158/1538-7445.am2017-4280
Abstract: Fumarate Hydratase (FH) mutations underpin the autosomal recessive syndrome Fumarate Hydratase deficiency and the autosomal dominant syndrome Hereditary Leiomyomatous and Renal Cell Carcinoma (HLRCC). The variant rs367543046, a duplication leading to p. Lys477_Asn478insLys in FH… read more here.
Keywords: cancer; renal cell; hlrcc; prostate cancer ... See more keywords
Complete Response of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)-Associated Renal Cell Carcinoma to Pembrolizumab Immunotherapy: A Case Report
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DOI: 10.3389/fonc.2021.735077
Abstract: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare autosomal dominant disorder that results from a germline mutation in the fumarate hydratase (FH) gene; it manifests as cutaneous leiomyomas, uterine fibroids, and renal cell… read more here.
Keywords: renal cell; hlrcc; rcc; cell cancer ... See more keywords
Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2021.738822
Abstract: Aim We aimed to describe and analyse clinical features, characteristics, and adherence to surveillance guidelines in an Australian Birt-Hogg-Dubé syndrome (BHD) and hereditary leiomyomatosis and renal cell cancer (HLRCC) cohort. Methods All identified patients with… read more here.
Keywords: birt hogg; hogg dub; hlrcc; hereditary leiomyomatosis ... See more keywords