Systemic Mastocytosis

KIT p.D816V Variant

The KIT p.D816V variant has been reported in up to 93% of patients with systemic mastocytosis (Garcia-Montero et al. (2006) Blood 108 (7) 2366-2372). This variant has also been reported in acute myeloid leukaemia, gastrointestinal stromal tumours, testicular carcinoma and ovarian dysgerminomas. KIT p.D816V variant positive cells have been reported to be resistant to treatment with imatinib mesylate.

KIT p.D816V variant analysis can therefore be used as a tool in the differential diagnosis of systemic mastocytosis. However, the use of this variant for diagnostic purposes MUST be interpreted in combination with clinical and morphologic features.

The KIT p.D816V variant is detected using droplet digital PCR which can detect the variant when present at a level of greater than 0.1%.

Uncertainty of measurement for the assay is available upon application to the laboratory.

All samples must be accompanied by a Molecular Haemato-Oncology Request Form which can be completed electronically, printed and sent with each sample.

Laboratory contact: Dr Caroline Wickham 01392 408252

Clinical contact: Dr Paul Kerr 01392 402917


The laboratory participates in the UK NEQAS LI KIT p.D816V detection EQA (pilot) scheme.