Article ID Journal Published Year Pages File Type
4134920 Human Pathology 2009 5 Pages PDF
Abstract

SummaryTuberous sclerosis complex is a multisystemic disorder characterized by systemic hamartomas. Tuberous sclerosis complex is caused by the mutation of tumor suppressor genes tuberous sclerosis complex 1 or tuberous sclerosis complex 2. Tuberous sclerosis complex tumorigenesis is not always accompanied by loss of heterozygosity. The incidence of loss of heterozygosity is varied among the organs in which hamartomas occur. We report a 25-year-old woman diagnosed with tuberous sclerosis complex with lymphangiomyomatosis. Expression of tuberin and hamartin was examined in lung and skin specimens. Her skin lesion (angiofibroma) expressed both hamartin and tuberin, but her pulmonary lesion did not express hamartin. This suggests that different mechanisms of tumorigenesis may occur in pulmonary and skin lesions.

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