Dissociate expression of tuberous sclerosis complex 1 product hamartin in a skin and pulmonary lesion of a tuberous sclerosis complex.
Tuberous 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.
Wataya-Kaneda
Mari
M
Department of Dermatology, Osaka University Graduate School of Medicine, Suita-shi, Osaka 565-0871, Japan. mkaneda@derma.med.osaka-u.ac.jp
Katayama
Ichiro
I
D000328:Adult; D018322:Angiofibroma / Q000378:metabolism / Q000473:pathology*; D014408:Biomarkers, Tumor / Q000378:metabolism; D004252:DNA Mutational Analysis; D005260:Female; D019085:Fluorescent Antibody Technique, Direct; D016147:Genes, Tumor Suppressor; D006801:Humans; D007150:Immunohistochemistry; D008175:Lung Neoplasms / Q000378:metabolism / Q000473:pathology*; D018192:Lymphangioleiomyomatosis / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D018807:Polymorphism, Single-Stranded Conformational; D012878:Skin Neoplasms / Q000378:metabolism / Q000473:pathology*; D014402:Tuberous Sclerosis / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics / Q000378:metabolism*
D014408:Biomarkers, Tumor; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins