Genetic screening for nevoid basal cell carcinoma syndrome in patients with a solitary keratocystic odontogenic tumour is not useful

Aim. The aim of this study was to investigate the need for routine genetic counselling for identification of features of nevoid basal cell carcinoma syndrome (NBCCS) in patients presenting with a solitairy keratocystic odontogenic tumour (KCOT) of the jaws.
Methods. Sixty-nine patients treated for a solitary KCOT have been followed for the possible development of second KCOTs or other signs indicative of NBCCS. In addition, 11 randomly selected patients of this group were referred for genetic counselling, including identification of germ-line mutations in the Patched gene (PTCH gene).
Results. In none of the 69 patients clinical and radiographic manifestations of second KCOTs and/or other features associated with NBCCS were found during a follow-up period of 49.8 months. In the 11 patients referred for genetic counselling, there were no features indicative of the presence of NBCCS. No mutations in the PTCH gene could be identified.
Conclusion. This study does not support the need for routine genetic counselling in patients presenting with a solitairy keratocystic odontogenic tumour of the jaws.