Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned.
Incidental findings are inevitable as clinical research and practice transitions from a single gene approach to a genomic approach. A novel deletion of the Fumarate Hydratase (FH) gene was identified in a 22 year old male who underwent a molecular karyotype as part of an autism spectrum disorder research project. This unexpected result implies a predisposition to Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC), a rare, autosomal dominant condition and has unforeseen implications for him and his family. We review the typical features and management of HLRCC and discuss the challenges that face health professionals, as genetic testing advances and becomes more accessible.
Genetics Medicine and Familial Cancer Centre, The Royal Melbourne Hospital, Parkville, Victoria, Australia. bichdduong@gmail.com.
Bich-Thu
BT
Duong
Royal Children's Hospital Clinical Genetics Service, Royal Children's Hospital, Parkville, Victoria, Australia.
Ravi
R
Savarirayan
Genetics Medicine and Familial Cancer Centre, The Royal Melbourne Hospital, Parkville, Victoria, Australia.|University of Melbourne, Parkville, Victoria, Australia.
Ingrid
I
Winship
D020817:Asperger Syndrome / Q000235:genetics*; D005649:Fumarate Hydratase / Q000235:genetics*; D006801:Humans; D033162:Incidental Findings; D018231:Leiomyomatosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary; D010375:Pedigree; D012878:Skin Neoplasms / Q000235:genetics*; D014594:Uterine Neoplasms / Q000235:genetics*; D055815:Young Adult
D005649:Fumarate Hydratase
Actionable genes; Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC); Incidental finding