GIST Mutation Analysis
Description:
A gain of function mutation is found in the proto-oncogene c-Kit in most Gastrointestinal stromal tumours. 65% of mutations occur in chromosome 4 in exon 11 and these mutations are associated with malignancy and poorer outcome. Less common mutations occur in exon 9 (10%) and exon 13 (2%). In 5% of GISTs mutations occur in the PDGFRA.
Clinical details:
Imatinib mesylate, a selective inhibitor of tyrosine kinases (BCR-ABL, c-KIT, PDGFRA), inhibits mutant c-KIT and leads to apoptosis of GIST cells. Research indicates that patients with deletions or insertions in exon 11 have a poorer prognosis and activating mutations in exon 9 may indicate highly malignant tumour. Some patients negative for c-kit may contain activating mutations in PDGFR. Patients with the D842V mutation may not respond to imatinib treatment.
Reference range:
Tissue
Synonyms or keywords:
Tyrosine kinases, tyrosine kinase inhititor, c Kit , PDGFRA, gastrointestinal stromal tumours, solid cancers, imatinib, Gleevec , imatinib mesylate.
Department:
Location:
Sample type and Volume required:
Paraffin embeded curls/fresh tissue
Turnaround time:
5 days
Storage and transport:
Room temp
Contacts:
Molecular Oncology Unit at Guy's
0207 188 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
