The proliferating cells in LAM share with normal smooth muscle cells their reactivity with desmine, vimentin and actin but certain are different by their reactivity with the monoclonal antibody HMB45, a common antigen marker of melanocyte differentiation cells, clear-cell lung carcinomas or renal angiomyolipomas. A loss heterozygosity in the region of the TSC2 gene in renal angiomyolipomas has been demonstrated in association with pulmonary lymphangioleiomyomatosis. The TSC2 gene is particularly implicated in the pathogenesis of Bourneville tuberous sclerosis. Tazelaar HD TI - Pulmonary lymphangioleiomyomatosis in a man. Coupled with the results of immunostains, these findings are consistent with TSC2 mutation.
Cancer is a heritable disorder of somatic cells.
Environment and heredity both operate in the origin of human cancer. Hereditary cancers have been important in the understanding of carcinogenesis, and have pointed to the first tumor suppressor genes. Such a hereditary cancer was described in the rat by Reidar Eker in 1954. The Eker rat model of hereditary renal carcinoma is an example of a Mendelian dominantly inherited predisposition to a specific cancer in an experimental animal. The Eker rat provides a valuable experimental model for understanding the mechanisms of disease, and the development of the therapeutic treatments.