c-KIT mutations screen

Overview
Ordering info

Description:

The c-kit protein is a transmembrane tyrosine kinase receptor. Ligand binding of c-kit leads to homodimerisation and the autophosphorylation of tyrosine residues 568, 570,703, 721 and 936. Autophosphorylated tyrosine associates with proteins such as STAT leading to cell proliferation. Gain of function mutations in c-kit are found in several human tumours.

Clinical details:

Imatinib mesylate, a selective inhibitor of tyrosine kinases (BCR-ABL, c-KIT, PDGFRA), inhibits mutant c-KIT

Reference range:

PB/BM and Tissue.

Synonyms or keywords:

tyrosine kinases, tyrosine kinase inhititor, c Kit , PDGFRA, gastrointestinal stromal tumours, solid cancers, imatinib, Gleevec , imatinib mesylate, melanomas.

Department:

Genetics Department

Location:

Guy's Hospital

Sample type and Volume required:

Paraffin embedded curls/fresh tissue.

Turnaround time:

2 weeks

Criteria for acceptance / rejections of sample

Storage and transport:

Room temperature. Paraffin embedded tissue blocks should be sent to Histopathology for curls to be cut.

Contacts: