A new case study by Näf et al. (2015) reports on a Swiss family with the novel FLCN mutation c.563delT – a deletion in exon 6 that results in a frameshift and premature termination (p.Phe188Serfs*35) suspected to result in nonsense mediated decay.
The index patient, a 46 year old female, was found to have bilateral kidney tumours and pulmonary cysts following CT imaging. The tumours were removed surgically and histologically classified as chromophobe RCC. Her father also had a history of renal tumours with multiple histologies. However, it was only following research into inherited kidney cancer by her husband that genetic testing for BHD was considered. The deletion mutation was found in the index patient, her father, and her two asymptomatic sons who will now be monitored for tumour development.
Näf et al. recommend genetic testing for BHD in patients with suspected hereditary RCC and acknowledge that it is under diagnosed due to low awareness. They also acknowledged the role patients and family members can play in BHD diagnoses based on their own research. However, they stress the need for appropriate counselling regarding genetic testing both for index family members and the extended family who may be at risk.