SAT-097 HEREDITARY RENAL CANCER PREDISPOSING SYNDROMES IN TASMANIA

Abstract

Renal cancer is the 9th most commonly diagnosed malignancy in Australia, with an approximate increase of 13.6% between 2014 to 2018. Moreover, renal cancer accounts for 2.2% of all cancer related deaths in Australia. Hereditary renal cancer accounts for 3 to 5% of all renal cancers. Two syndromes identified as having inherited risk of kidney cancer are Birt Hogg Dubé (BHD) and Hereditary Leiomyomatosis Renal Cell Carcinoma (HLRCC) syndromes. BHD is an autosomal dominant condition characterised by the development of skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cell carcinoma. BHD is caused by mutations within the folliculin (FLCN) gene and has an estimated prevalence of 1 in 200,000 people. HLRCC is an autosomal dominant condition with unknown prevalence that is caused by mutations within the fumarate hydratase (FH) gene. HLRCC is characterised by the development of cutaneous and uterine leiomyomas. The understanding of hereditary renal cell carcinomas and associated syndromes has had an important role in the diagnosis and management of patients with renal cancer. The aim of this audit was to quantify the rates of BHD and HLRCC syndromes within Tasmania. Individuals with genetic renal disease in Tasmania were identified via AUDIT4 (renal unit clinical data system n=2407) and ANZDATA (Australia and New Zealand Dialysis and Transplantation Registry, n=361) from 1st January 2012 to 01 October 2018. After discarding duplicates, individuals with a diagnosis (clinical/genetic) of BHD and HLRCC syndromes were identified. The population comprised 33 patients, majority female (n=19, 58%) with an average age of 55 years. Three patients became deceased during the study period. 26/33 (79%) patients were identified as having BHD and 7/33 (21%) HLRCC. A genetic diagnosis had been made in all cases, with 4 causative variants each in FLCN and FH respectively amongst 26 BHD patients and 7 HLRCC patients. In the Tasmanian adult cohort BHD and HLRCC have an estimated incidence of 1:15,385 and 1:57,143 respectively. BHD and HLRCC are hereditary renal cancer predisposing syndromes which are not uncommon in the Tasmanian population.