KIT D816 Mutation Analysis (Mastocytosis), Whole Blood

Source; Block/Specimen ID; Clinical Indication; KIT D816 Mutation; Interpretation

Whole Blood

Point mutation of the KIT oncogene at codon 816 (D816V) is seen in >90% of systemic mastocytosis (SM) cases. The presence of KIT D816V mutation is one of the minor criteria for diagnosis of SM and mutation testing can assist in diagnosis, particularly in limited specimens. KIT D816 mutations, including D816V, D816H and D816Y, are also the most common KIT mutations seen in the core-binding factor acute myeloid leukemia (AML). In both t(8;21) and inv(16)/t(16;16) AML, cases with KIT D816 mutation are associated with worse outcomes than unmutated cases.
This PCR-based DNA pyrosequencing assay sensitively detects the KIT D816V mutation down to 2%. If KIT mutation testing of gastrointestinal stromal tumor (GIST) or melanoma is needed, test code 19961 should be used instead, which tests for exons 8, 9, 11, 13 and 17 of the KIT gene by Sanger sequencing.