What causes granular cell tumors (GCTs)?

Updated: Dec 29, 2018
  • Author: Vladimir O Osipov, MD; Chief Editor: E Jason Abel, MD  more...
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Answer

Pareja et al identified loss-of-function mutations in ATP6AP1 or ATP6AP2 in 72% of granular cell tumors. Silencing of these genes in vitro results in impaired vesicle acidification, redistribution of endosomal compartments, and accumulation of intracytoplasmic granules, which are cardinal phenotypic characteristics of granular cell tumors. [12]


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