Sporadic Association of the Carcinoma Gall Bladder in A Patient with Tuberous Sclerosis Complex

Abstract

Tuberous sclerosis complex (TSC) is the rare autosomal dominant neurocutaneous disorder that affects the individual by causing various benign lesions. However, in recent studies, few cases of TSC in which a novel malignancy is also observed. TSC has mutations in two suppressor genes, i.e. TSC1 & TSC2, responsible for developing a wide range of hamartomatous lesions [1]. Recent evidence suggests that the TSC genes play an important role in the pathway whose dysregulation leads to an array of epithelial malignancies. TSC 1 mutation is mainly identified in sporadic tumours of epithelial cells that indicate important phenotypic changes resulting from modulation of the hamartin expression. Here we present a case diagnosed with carcinoma gall bladder and having tuberous sclerosis complex defining the co-relation.