TSC2 mutation analysis as a biomarker for lymphangioleiomyomatosis (LAM)

PI: David Kwiatkowski, MD, PhD

Institution: Brigham and Women's Hospital

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Angiomyolipoma/LAM are remarkable tumors because they have a very low rate of mutations, much lower than the usual cancers that occur in adults. This led us to examine whether a well-known transcription factor (MITF) was involved in angiomyolipoma and LAM. MITF regulates skin pigmentation (color and tanning) in all people. We found that MITF is also very consistently expressed in angiomyolipoma and LAM, and causes some pigment genes to be expressed, but not all such genes required for pigmentation. We think that MITF may contribute to the growth and development of angiomyolipoma and LAM. It is known that MITF is an oncogene (growth driver) in melanoma. It is clear that genes who expression is driven by MITF may contribute to angiomyolipoma growth, and that targeting such genes with drugs or in other ways may give a new way to control the growth of angiomyolipoma.