Prognostic assessment of acute myeloid leukemias with core-binding factor translocations (inv16 or t[16;16] CBFB-MYH11 or t[8;21] RUNX1-RUNX1T1)
Aids in establishing the diagnosis in some cases of mastocytosis
This test is intended to detect KIT gene mutations in exons 8 through 11 and 17 that occur in hematologic malignant neoplasms, including specifically acute myeloid leukemia (AML) and mastocytosis. This test identifies somatic (acquired) mutations in these tumors.
KIT mutations have been associated with adverse prognosis in "core-binding factor" (CBF) acute myeloid leukemias (AML) characterized by inv16 or t(16;16) CBFB-MYH11 or t(8;21) RUNX1-RUNX1T1 genetic abnormalities.
KIT mutations are involved in the pathogenesis of mastocytosis and detection of the common KIT mutation p.Asp816Val (D816V) is an important minor diagnostic criterion for systemic mastocytosis; however, other KIT mutations can be seen in a small number of cases negative for the D816V.
This test is intended primarily for detection of KIT mutations in CBF AML and may be useful in some cases of mastocytosis. However, if systemic mastocytosis is suspected, the more sensitive allele-specific PCR method to specifically identify the KIT D816V abnormality is strongly recommended prior to KIT sequencing (available as KITB / KIT Asp816Val Mutation Analysis, Blood; KITBM / KIT Asp816Val Mutation Analysis, Qualitative PCR, Bone Marrow; or KITAS / KIT Asp816Val Mutation Analysis, Qualitative PCR), given that mast cell abundance in bone marrow samples is often very limited (see Cautions).
