Perivascular epithelioid cell neoplasms (PEComa) are a family of rare mesenchymal tumors
with hybrid myo-melanocytic differentiation. Although most PEComas harbor loss-of-function
TSC1/TSC2 mutations, a small subset were reported to carry TFE3 gene rearrangements. As
no comprehensive genomic study has addressed the molecular classification of PEComa,
we sought to investigate by multiple methodologies the incidence and spectrum of genetic
abnormalities and their potential genotype-phenotype correlations in a large group of 38 …