Evidence that lymphangiomyomatosis is caused by TSC2 (ital) mutations: chromosome 16p13 loss of heterozygosity in angiomyolipomas and lymph nodes from women with lymphangiomyomatosis

Evidence that lymphangiomyomatosis (LAM) is caused by TSC2 (ital) mutations has been found but genetic transmission of LAM has not been reported. On chromosome 16p13 loss of heterozygosity has been found in angiomyolipomas and lymph nodes of women with LAM, a rare disease which involves diffuse proliferation of smooth muscle cells and can only be treated by transplanting lungs. LAM may or may not be associated with tuberous sclerosis complex (TSC), an autosomal dominant tumor suppressor gene syndrome. Loss of heterozygosity is found in the chromosomal region for the TSC2 (ital) gene in 60% of tuberous sclerosis complex (TSC)-associated angiomyolipomas. It seems pathogenesis of sporadic LAM may be related to TSC2 (ital). Women with LAM may have low-penetrance germ-line TSC2 (ital) mutations or may be mosaic, having TSC2 (ital) mutations in the kidney and lungs and not in other organs.