Abstract
Individuals with tuberous sclerosis complex (TSC) develop tumors in multiple organs due to pathogenic variants in TSC1 or TSC2, with skin tumors showing mTOR activation and aberrant cell growth. To identify transcriptional signatures and dysregulated signaling pathways that are shared in different types of TSC skin tumors, we performed RNAseq on 58 samples of fibroblast-like cells grown from TSC skin tumors (27 angiofibromas, 11 fibrous cephalic plaques, 10 ungual fibromas, 8 shagreen patches, 2 oral fibromas) and 28 samples of fibroblasts from patient normal appearing skin, in patients whose blood DNA showed germline variants in TSC2 in 14, TSC1 in 1, mosaicism in 3, and no mutation identified in 3.
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