The assay is for the detection of point mutations in the Ras gene in AML and MDS patients.
Transfection studies using NIH3T3 cells have shown that activated Ras genes are involved in the pathogenesis of AML and Myelodysplastic Syndromes (MDS). N-ras, H-ras and K-ras genes encode the protein p21ras, which has GTPase activity. Mutations in the critical codons 12, 13 and 61 activate the oncoprotein and lead to oncogenic transformation. Point mutations have been demonstrated in MDS and AML. In MDS these mutations correlate with disease progression and poor survival. 15-30% of AML patients have a N-ras mutation.
Clinical details
Factors affecting results or interpretation: This assay is useful for detecting Ras mutations in presentation MDS/AML only. Samples from treated patients may give false negative results.
Testing site
Synnovis : Genomics : King's College Hospital
Laboratory
SE-HMDS Laboratory for Molecular Haemato-Oncology
Sample type and volume required
1-5 ml Bone marrow and/or 5-10ml peripheral blood in EDTA (purple top) tube.
Presence of heparin anticoagulant will inhibit PCR applications. Clotted samples are unsuitable for DNA analysis.
Samples must be clearly labelled with the patient's first name, surname, D.O.B, hospital number and the date the sample was taken.
Presence of heparin anticoagulant will inhibit PCR applications. Clotted samples are unsuitable for DNA analysis.
Samples must be clearly labelled with the patient's first name, surname, D.O.B, hospital number and the date the sample was taken.
Storage and transport
To be sent within 2 days and stored at room temperature.
First class postage is adequate but samples must be shipped with packaging appropriate for UN 3373 samples following packing instruction 650. See link below for further details.
http://www.dft.gov.uk
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