Mutation Assay : N-ras 12 and 61

Description: 
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.
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.
Turnaround time: 
By special request - please enquire.
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
Time limit for extra tests: 
Test specific - please enquire.
Contacts:
HMDC Laboratory for Molecular Haemato-Oncology at King's College Hospital
020 7848 5809
King's College Hospital
Denmark Hill
London SE5 9RS
HMDC Department at King's College Hospital
020 3299 9000 ext 32414
c/o Central Specimen Reception
Blood Sciences Laboratory
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill
London SE5 9RS
Mon-Fri, 9.00am-5.30pm
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

Radich J.P., Kopecky K.J.,Willman here C.L., Weick J., Head D., Appelbaum F., and Collins S.J. 1990 N-ras Mutations in Adult De Novo Acute Myelogenous Leukemia:Prevalence Clinical Significance. Blood; 76(4) p801-807

Neubauer A, Dodge R.K., George S.L., Davey F.R., Silver R.T. ,Schiffer C.A.,Mayer, R.J., Ball ,Wurster-Hill D., Bloomfield C.D., and Liu E.T. 1994Prognostic Importance of Mutations in the ras proto-oncogenes in De Novo Acute Myeloid Leukemia. Blood; 83(6) p1603-1611

Lu D, Nounou R.,Beran M., Estey E., Manshouri T., Kantarjian H., Keating M.J., and Albitar M. 2003. The prognostic significance of bone marrow levels of Neurofibromatosis-1 protein and ras oncogene mutations in patients with Acute Myeloid Leukemia and Myelodysplastic Syndrome. Cancer; 97(2) p441-449 

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Last updated: 07/08/2015