significantDiagnostic advance

Highly sensitive KIT D816V digital PCR enables peripheral blood screening

Systemic Mastocytosis →

Summary

Jara-Acevedo et al. (2015) validated a highly sensitive digital droplet PCR assay detecting KIT D816V at allele frequencies as low as 0.01% in peripheral blood. This enables non-invasive screening for SM without bone marrow biopsy and facilitates longitudinal molecular monitoring of treatment response.

Related genes

KITD816V (c.2468A>T)
The central driver mutation of systemic mastocytosis. Causes constitutive ligand-independent activation of the KIT receptor tyrosine kinase, driving mast cell proliferation, survival, and activation. Arises in early hematopoietic stem/progenitor cells.

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