What is the pathogenesis of granular cell tumors (GCTs)?

Updated: Nov 12, 2020
  • Author: Vladimir O Osipov, MD; Chief Editor: E Jason Abel, MD  more...
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Granular cell tumors are typically solitary and smaller than 3 cm. They are usually located in the dermis or subcutis and less frequently in the submucosa, smooth muscle, or striated muscle. Granular cell tumors are also found in the internal organs, particularly in the upper aerodigestive tract. Benign and malignant counterparts are known; the latter are rare, comprising fewer than 2% of all granular cell tumors. [6]

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. [7]

Following whole-exome sequencing, RNA sequencing, and targeted sequencing of 51 GCT samples,Sekimizu and colleagues reported identified loss-of-function mutations in 7 additional genes encoding vacuolar H+ -ATPase (V-ATPase) components. 

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