Articles with "leiomyomatosis renal" as a keyword



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Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome)

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Published in 2017 at "JAAD Case Reports"

DOI: 10.1016/j.jdcr.2017.06.007

Abstract: Hereditary leiomyomatosis and renal cell cancer (HLRCC) (formerly known as Reed syndrome, multiple cutaneous and uterine leiomyomatosis, leiomyomatosis cutis et uteri, and multiple leiomyomatosis) is an autosomal dominant syndrome comprising cutaneous leiomyomas, uterine leiomyomas, or… read more here.

Keywords: renal cell; hereditary leiomyomatosis; cutaneous leiomyomas; leiomyomatosis renal ... See more keywords
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Proteogenomic landscape of uterine leiomyomas from hereditary leiomyomatosis and renal cell cancer patients

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Published in 2021 at "Scientific Reports"

DOI: 10.1038/s41598-021-88585-x

Abstract: Pathogenic mutations in fumarate hydratase (FH) drive hereditary leiomyomatosis and renal cell cancer (HLRCC) and increase the risk of developing uterine leiomyomas (ULMs). An integrated proteogenomic analysis of ULMs from HLRCC (n = 16; FH-mutation confirmed) and… read more here.

Keywords: renal cell; uterine leiomyomas; hereditary leiomyomatosis; leiomyomatosis renal ... See more keywords
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Fumarate hydratase inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction

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Published in 2018 at "Cancer Science"

DOI: 10.1111/cas.13701

Abstract: Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by inactivation of the Krebs cycle enzyme fumarate hydratase (FH). HLRCC patients are at high risk of developing kidney cancer of type… read more here.

Keywords: hereditary leiomyomatosis; leiomyomatosis renal; ferroptosis; inactivation ... See more keywords
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Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach

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Published in 2017 at "BMJ Case Reports"

DOI: 10.1136/bcr-2016-215115

Abstract: Cutaneous leiomyomasare rare tumours of smooth muscle origin associated with disorders such as hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome. HLRCC is an autosomal dominant syndrome caused by loss of function mutations in the… read more here.

Keywords: cancer hlrcc; renal cell; hereditary leiomyomatosis; leiomyomatosis renal ... See more keywords
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MR Spectroscopy for Detecting Fumarate Hydratase Deficiency in Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome.

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Published in 2022 at "Radiology"

DOI: 10.1148/radiol.212984

Abstract: Background Noninvasive in vivo detection of fumarate accumulation may help identify fumarate hydratase deficiency in renal cancer related to hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. Purpose To investigate the feasibility of MR spectroscopy… read more here.

Keywords: cell carcinoma; renal cell; hlrcc associated; spectroscopy ... See more keywords
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Hereditary Leiomyomatosis and Renal Cell Cancer.

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Published in 2019 at "Acta dermato-venereologica"

DOI: 10.2340/00015555-3366

Abstract: Hereditary leiomyomatosis and renal cell cancer is a genodermatosis with an autosomal dominant inheritance pattern. It is a tumour predisposition syndrome characterized by cutaneous and uterine leiomyomas, and increased susceptibility to develop renal cell cancer.… read more here.

Keywords: renal cell; cell cancer; hereditary leiomyomatosis; leiomyomatosis renal ... See more keywords
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Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes

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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
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Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma

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Published in 2017 at "Indian Journal of Pathology and Microbiology"

DOI: 10.4103/0377-4929.200025

Abstract: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a recently described entity with unknown exact prevalence. The affected individuals are predisposed to have multiple leiomyomas and renal cancer due to germline mutation in fumarate hydratase… read more here.

Keywords: renal cell; hereditary leiomyomatosis; cell carcinoma; leiomyomatosis renal ... See more keywords