P489\u2005Cancer predisposition screening in children with cancer in ireland

Abstract

Background Presently, 8–10% of children and adolescents diagnosed with cancer have an underlying cancer predisposition syndrome, however the true figure may be higher. Family history alone identifies <4% of such patients and is therefore not sufficient in isolation as de novo mutations also occur. It is important to identify patients with cancer predisposition syndromes to guide further screening and tailor long term follow up and surveillance programmes. In addition, such information may help counsel family members on cancer risk. At present we believe we are under-referring patients for genetic cancer predisposition testing. The Royal Marsden Hospital is piloting a new system of identifying childhood and adolescent cancer patients for genetic screening. Aim To document how many patients at Our Lady’s Children’s Hospital, Crumlin, relevant to their specific cancer diagnosis, may benefit from genetic referral to identify those who may have an underlying cancer predisposition syndrome Methods Retrospective review of all patients diagnosed with cancer in OLCHC between 01/01/2017 – 31/12/17. Using the Royal Marsden Hospital ‘Stop-light’ system relative to the patient’s diagnosis, patients who have a diagnosis labelled as: Red - automatically eligible for genetic referral Yellow – may benefit from referral Green – do not require referral Results There were 160 patients diagnosed in the period 01/01/2017 – 31/12/2017. Of these, 6 were excluded because of a pre-cancerous, rather than cancer, diagnosis: aplastic anaemia, transient abnormal myelopoiesis, post-transplant lymphoproliferative disorder and Fanconi anaemia. Of the remaining 154 patients diagnosed with cancer, 88 (57.1%) were classified as ‘green’ according to the Royal Marsden Hospital ‘Stop-light’ system. 48 (31.2%) were classified as ‘orange’ and 18 (11.7%) were classified as red, qualifying for automatic referral to clinical genetics. Conclusions A significant proportion of patients diagnosed with cancer in OLCHC may benefit from referral to clinical genetics and screening for underlying cancer predisposition syndromes.