Incidental diagnosis of HLRCC following investigation for Asperger Syndrome: actionable and actioned

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.

Genetic Counselor Recommendations for Cancer Predisposition Evaluation and Surveillance in the Pediatric Oncology Patient

“…Given the rarity of childhood cancer predisposition syndromes, there is a paucity of guidelines for the referral, diagnosis, and management of patients with suspected or confirmed cancer predisposition syndromes (2). In addition, incidental diagnosis of cancer predisposition syndromes in children is increasing with the use of genomic testing and involves its own distinct psychosocial issues and challenges (4)(5)(6)(7).…”

Cancer genetic counseling for childhood cancer predisposition is associated with improved levels of knowledge and high satisfaction in parents

“…However, another study conducted in a Pediatric Cancer Survivorship Clinic found that up to 29% of survivors of childhood cancer could benefit from cancer genetic counseling due to family history of cancer, tumor type, medical history, or family history of another condition (Knapke et al, 2012). In addition to these reasons for referral to cancer genetic counseling, secondary or incidental identification of childhood cancer predisposition is increasing due to higher utilization of high-throughput sequencing technology of tumor tissue and germline testing for non-cancer indications (Boone et al, 2013;Brodeur et al, 2017;Catenacci et al, 2015;Duong et al, 2016;Hamm et al, 2014;Johnston et al, 2012). These findings have prompted additional recommendations for the consideration of germline genetic testing for childhood cancer predisposition (Brodeur et al, 2017;Zhang et al, 2015).…”