KIT Mutation Analysis in Melanoma Test Cost & Procedure

A small percentage of melanomas have oncogenic mutations in the KIT gene, which are most common in mucosal (20%) and acral (15%) forms and less common in cutaneous and conjunctival melanomas. These KIT mutations are comparable to those seen in other types of malignancies that respond to imatinib and are projected to be activating. Finding patients who might benefit from treatments like imatinib that target activated KIT, such as the KIT mutation in melanoma, may be made easier with the help of this test. Targeted next-generation sequencing (NGS) is used for this DNA test, which will find KIT mutations in the sequenced regions of exons 8, 9, 11, 13, and 17. Individual cases of KIT-mutant melanoma have also been found to respond to sunitinib,3 dasatinib,4 and sorafenib,5,6.

Used for

• Core-binding factor translocation-positive acute myeloid leukaemia prognostic evaluation (inv16 or t[16;16] CBFB-MYH11 or t[8;21] RUNX1-RUNX1T1) This test is designed to identify the KIT gene mutations in exons 8 through 11 and 17 that are present in mastocytosis and acute myeloid leukaemia, two hematologic malignant neoplasms.
• These cancers' somatic (acquired) mutations are found with this assay.
•  Mastocytosis pathogenesis and identification of the prevalent KIT mutant p both involve KIT mutations. Although Asp816Val (D816V) is an essential minor diagnostic criterion for systemic mastocytosis, alternative KIT mutations can occasionally be found in cases where the D816V is not present

However, considering that mast cell quantity in bone marrow samples is frequently very low, the more sensitive allele-specific polymerase chain reaction approach to specifically identify the KIT D816V mutation is strongly advised before KIT sequencing if systemic mastocytosis is anticipated.

The following steps make up the testing protocol's methodology.

macrodissection of tumour-rich regions and microscopic analysis of the specimen.

purification and extraction of DNA.

Exons 11, 13, and 17 of KIT were amplified by PCR.

using real-time PCR high-resolution ion melting curve analysis, or direct, bidirectional sequencing, to check for mutations. Any putative mutations found by melting are confirmed by DNA sequencing.