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Title: Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair.
Austin Authors: Teh, Jiasian ;Kinnear, Ned J;Douglass-Molloy, Hannah;Hennessey, Derek Barry
Affiliation: Austin Health, Heidelberg, Victoria, Australia
Royal Adelaide Hospital, Adelaide, South Australia, Australia
Issue Date: 25-Jan-2017 2017
Publication information: BMJ Case Reports 2017; 2017: bcr-2016-218270
Abstract: A 49-year-old woman with cutaneous and uterine leiomyomas, flank pain and a family history of hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome sought genetic testing. She was found to harbour a fumarate hydratase (FH) genetic mutation and a previously undetected renal tumour. The patient underwent radical nephrectomy, and remains well at follow-up. HLRCC syndrome is a rare autosomal dominant disease, with patients at increased risk for cutaneous leiomyomas, early-onset uterine leiomyomas and aggressive renal carcinoma. Although the syndrome may manifest life-threatening complications, outcomes may be improved by preventative family screening and surveillance, compelling early diagnosis.
DOI: 10.1136/bcr-2016-218270
ORCID: 0000-0002-7833-2537
PubMed URL: 28122802
Type: Journal Article
Appears in Collections:Journal articles

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