Gastric adenocarcinoma in association with tuberous sclerosis : case report

Abstract EN

We report the first case of gastric cancer in association with tuberous sclerosis.

Tuberous sclerosis is an autosomal dominant disorder which presents with a constellation of signs including benign tumours in the brain and in other vital organs such as the kidneys, heart, eyes, lungs, and skin.

A combination of symptoms may include seizures, developmental delay, behavioural problems, skin abnormalities, and lung and kidney disease.

It is caused by mutations on either of two genes, tuberous sclerosis genes, TSC1 or TSC2, which encode for the proteins hamartin and tuberin respectively.

These proteins act as tumour growth suppressor agents that regulate cell proliferation and differentiation.

Tuberous sclerosis has been associated with hamartomatous growths and angiomyolipomas, an association with gastric cancer has not been reported ; however, this could be a co-incidental finding and further cases need to be reported.