Cargando…

Hereditary leiomyomatosis and renal cell carcinoma

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal-dominant hereditary syndrome, which is caused by germline mutations in the FH gene that encodes the tricarboxylic acid cycle enzyme fumarate hydratase (FH). HLRCC patients are predisposed to develop cutaneous leiomyomas, mult...

Descripción completa

Detalles Bibliográficos
Autores principales: Schmidt, Laura S, Linehan, W Marston
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4074185/
https://www.ncbi.nlm.nih.gov/pubmed/25018647
http://dx.doi.org/10.2147/IJNRD.S42097
_version_ 1782323196648751104
author Schmidt, Laura S
Linehan, W Marston
author_facet Schmidt, Laura S
Linehan, W Marston
author_sort Schmidt, Laura S
collection PubMed
description Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal-dominant hereditary syndrome, which is caused by germline mutations in the FH gene that encodes the tricarboxylic acid cycle enzyme fumarate hydratase (FH). HLRCC patients are predisposed to develop cutaneous leiomyomas, multiple, symptomatic uterine fibroids in young women resulting in early hysterectomies, and early onset renal tumors with a type 2 papillary morphology that can progress and metastasize, even when small. Since HLRCC-associated renal tumors can be more aggressive than renal tumors in other hereditary renal cancer syndromes, caution is warranted, and surgical intervention is recommended rather than active surveillance. At-risk members of an HLRCC family who test positive for the familial germline FH mutation should undergo surveillance by annual magnetic resonance imaging from the age of 8 years. Biochemical studies have shown that FH-deficient kidney cancer is characterized by a metabolic shift to aerobic glycolysis. It is hoped that through ongoing clinical trials evaluating targeted molecular therapies, an effective form of treatment for HLRCC-associated kidney cancer will be developed that will offer an improved prognosis for individuals affected with HLRCC-associated kidney cancer.
format Online
Article
Text
id pubmed-4074185
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher Dove Medical Press
record_format MEDLINE/PubMed
spelling pubmed-40741852014-07-11 Hereditary leiomyomatosis and renal cell carcinoma Schmidt, Laura S Linehan, W Marston Int J Nephrol Renovasc Dis Review Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal-dominant hereditary syndrome, which is caused by germline mutations in the FH gene that encodes the tricarboxylic acid cycle enzyme fumarate hydratase (FH). HLRCC patients are predisposed to develop cutaneous leiomyomas, multiple, symptomatic uterine fibroids in young women resulting in early hysterectomies, and early onset renal tumors with a type 2 papillary morphology that can progress and metastasize, even when small. Since HLRCC-associated renal tumors can be more aggressive than renal tumors in other hereditary renal cancer syndromes, caution is warranted, and surgical intervention is recommended rather than active surveillance. At-risk members of an HLRCC family who test positive for the familial germline FH mutation should undergo surveillance by annual magnetic resonance imaging from the age of 8 years. Biochemical studies have shown that FH-deficient kidney cancer is characterized by a metabolic shift to aerobic glycolysis. It is hoped that through ongoing clinical trials evaluating targeted molecular therapies, an effective form of treatment for HLRCC-associated kidney cancer will be developed that will offer an improved prognosis for individuals affected with HLRCC-associated kidney cancer. Dove Medical Press 2014-06-20 /pmc/articles/PMC4074185/ /pubmed/25018647 http://dx.doi.org/10.2147/IJNRD.S42097 Text en © 2014 Schmidt and Linehan. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.
spellingShingle Review
Schmidt, Laura S
Linehan, W Marston
Hereditary leiomyomatosis and renal cell carcinoma
title Hereditary leiomyomatosis and renal cell carcinoma
title_full Hereditary leiomyomatosis and renal cell carcinoma
title_fullStr Hereditary leiomyomatosis and renal cell carcinoma
title_full_unstemmed Hereditary leiomyomatosis and renal cell carcinoma
title_short Hereditary leiomyomatosis and renal cell carcinoma
title_sort hereditary leiomyomatosis and renal cell carcinoma
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4074185/
https://www.ncbi.nlm.nih.gov/pubmed/25018647
http://dx.doi.org/10.2147/IJNRD.S42097
work_keys_str_mv AT schmidtlauras hereditaryleiomyomatosisandrenalcellcarcinoma
AT linehanwmarston hereditaryleiomyomatosisandrenalcellcarcinoma