c-KIT mutations screen
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:
Location:
Sample type and Volume required:
Paraffin embedded curls/fresh tissue.
Turnaround time:
2 weeks
Storage and transport:
Room temperature.
Paraffin embedded tissue blocks should be sent to Histopathology for curls to be cut.
Contacts:
Molecular Oncology Unit at Guy's
020 7188 1716
viapath.OncologyDutyScientist@nhs.net
Genetics Department
Southwark Wing - 4th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT
Southwark Wing - 4th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT
Laboratory:
Last updated: 07/08/2015
