Abstract
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.
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Acknowledgments
Thank you to Trent Burgess, Senior Scientist-Molecular Cytogenetics, Victorian Clinical Genetics Services (VCGS) at the Royal Children’s Hospital, Parkville, Victoria, who confirmed the deletion and provided the gene deletion graphics for this article.
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Duong, BT., Savarirayan, R. & Winship, I. Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned. Familial Cancer 15, 25–29 (2016). https://doi.org/10.1007/s10689-015-9829-5
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DOI: https://doi.org/10.1007/s10689-015-9829-5