Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications.

  title={Dichotomy of Genetic Abnormalities in PEComas With Therapeutic Implications.},
  author={Narasimhan P. Agaram and Yun-Shao Sung and Lei Zhang and Chun-Liang Chen and Hsiao-Wei T. Chen and Samuel Singer and Mark Andrew Dickson and Michael F. Berger and Cristina R Antonescu},
  journal={The American journal of surgical pathology},
  volume={39 6},
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… CONTINUE READING
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