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|Title:||Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair.|
|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
|Citation:||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.|
|Appears in Collections:||Journal articles|
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