Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same

AbstractMany cancer predisposition syndromes are preceded or accompanied by a range of typical skin signs. Gorlin syndrome is a rare multisystem inherited disorder which can predispose to basal cell carcinomas (BCCs), childhood medulloblastomas in addition to various developmental abnormalities; the majority of cases are due to mutations in thePTCH1 gene. Approximately 5% of cases have been attributed to a mutation in theSUFU gene. Certain phenotypic features have been identified as being more prevalent in individuals with aSUFU mutation such as childhood medulloblastoma, infundibulocystic BCCs and trichoepitheliomas. Recently hamartomatous skin lesions have also been noted in families with childhood medulloblastoma, a “Gorlin like” phenotype and aSUFU mutation. Here we describe a family previously diagnosed with Gorlin syndrome with a novelSUFU splice site deleterious genetic variant, who have several dermatological features including palmar sclerotic fibromas which has not been described in relation to aSUFU mutation before. We highlight the features more prominent in individuals with aSUFU mutation. It is important to note that emerging therapies for treatment of BCCs in patients with aPTCH1 mutation may not be effective in those with aSUFU mutation.

Source: Familial Cancer - January 22, 2018 Category: Cancer & Oncology Source Type: research