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Article

Granular Cell Dermatofibroma Demonstrates Loss-of-Function Mutations in V-ATPase Component Genes.

Journal of cutaneous pathology - 1 Sept 2026

Jiang Xingyuan, Hu Ronghua, Choate Keith A, Panse Gauri

Abstract excerpt

Granular cell dermatofibroma (GCDF) is a unique histopathological variant of dermatofibroma, characterized by a portion of the lesion composed of cells with abundant granular cytoplasm, resembling granular cell tumors (GCT). GCTs are associated with mutations in V-ATPase component genes; however, the pathogenesis and molecular alterations in GCDF remain uncharacterized. We performed whole exome sequencing on six...

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Identifiers

PMID: 42108978
DOI: 10.1111/cup.70134
PMCID: PMC13432719

Genes

ATP6AP1
ATP6AP2
ATP6V0C

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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