KIT Mutation Analysis-Systemic Mastocytosis Test Cost & Procedure

Following normal AML therapy, patients with c-Kit mutations are more likely to experience relapses and have lower overall survival times. The tyrosine kinase inhibitor imatinib mesylate is responsive to patients with systemic mastocytosis who do not have the D816V pathogenic mutation. Children4 D816V mutation is found in 36% of cases, but other variants are uncommon (exon 17 D816Y, 815-817 indels, and exon 11).

(e.g. skin, GI biopsy).

Why is this test recommended?

Real-time allele-specific PCR is used to test samples from adult patients for the D816V mutation. The aforementioned assay is used to check samples from pediatric patients for the D816V mutation; in case it returns a negative result, conventional sequencing is used to check the samples for mutations in KIT exons 8, 9, and 11.

Sensitivity: 20% mutant allele specimen (exons 8, 9, and 11) Paraffin blocks or slides are necessary. A paraffin block or ten tumour slices (4-5 microns) without stain (15 sections for small biopsies). Leukocytes generated from bone marrow that have been frozen in cell pellets without red blood cells are also suitable.

What is this test?

• A rare and diverse condition known as systemic mastocytosis is characterized by mast cell activation and proliferation.
• KIT is a transmembrane tyrosine kinase that is essential for the development, survival, and differentiation of mast cells. KIT dimerizes following contact with its ligand, the stem cell factor, triggering downstream pathways involving many tyrosine kinases (PI3K, JAK/STAT, RAS/ERK).
• Most cases of systemic mastocytosis have activating mutations in KIT, with KIT D816V being the most frequent.
• Therefore, KIT inhibition has been a desirable strategy for treating mastocytosis ever since tyrosine kinase inhibitors were discovered.
• Initial results indicated that tyrosine kinase inhibitors were only effective in the rare KIT D816V negative individuals. However, the creation of novel tyrosine kinase inhibitors with action against the mast, like midostaurin or avapritinib,