Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review - 14/12/17
Abstract |
Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a rare genetic disorder that predisposes individuals to multiple cutaneous leiomyomas, renal cell carcinomas, and in women, uterine leiomyomas. Also known as Reed syndrome, it is caused by a germline heterozygous mutation of the fumarate hydratase tumor suppressor gene. HLRCC is associated with significant morbidity because of pain from cutaneous and uterine leiomyomas, the cutaneous pain often of unique character. Although genetic testing is currently considered the criterion standard to diagnose HLRCC, newer immunohistochemistry markers may provide rapid and cost effective alternatives to genetic testing. Because of the potentially aggressive nature of renal cell carcinomas that develop as early as in childhood, close annual cancer surveillance is desirable in individuals with HLRCC. In this review, we offer an update and an approach to the diagnosis, management, and renal cancer surveillance in HLRCC.
Le texte complet de cet article est disponible en PDF.Key words : cancer surveillance, cutaneous leiomyomas, piloleiomyomas, Reed syndrome, renal cancer, uterine leiomyomas
Abbreviations used : 2SC, CLM, FH, HIF, HLRCC, MCUL, RCC, ULM
Plan
Funding sources: None. |
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Conflicts of interest: None declared. |
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Reprints not available from the authors. |
Vol 77 - N° 1
P. 149-158 - juillet 2017 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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