Utility of sequencing for ATP6AP1 and ATP6AP2 to distinguish between atypical granular cell tumor with junctional component and melanoma.

Published in: Journal of cutaneous pathology (2023)

Atypical and malignant GCT can have histopathologic overlap with melanoma. Frameshift and premature stop codons in ATP6AP1/2 are specific for granular cell lineage, and capable of excluding melanoma, in the absence of known melanoma-associated driver mutations.

Keyphrases

single cell
transcription factor
skin cancer
cell therapy
mesenchymal stem cells
bone marrow