Sign Up to like & get recommendations! 0
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.
Sign Up to like & get recommendations! 0
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.
Sign Up to like & get recommendations! 0
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.
Sign Up to like & get recommendations! 0
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.
Sign Up to like & get recommendations! 1
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.
Sign Up to like & get recommendations! 0
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.
Sign Up to like & get recommendations! 0
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.
Sign Up to like & get recommendations! 0
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.