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...
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.
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.
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.
|Test Type||KIT Mutation Analysis in Melanoma|
KIT Mutation Analysis in Melanoma (Pathology Test)
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