Test : N-myc Amplification
Indications : The test is normally carried out to detect the presence of N-myc gene to determine the prognosis of the disease and to determine the mode of treatment. A
biopsy is done by the doctor to extract a sample tissue from the malignant solid tumor.In some cases a bone marrow sample is obtained.
The common methods to carry out N-myc analysis are Southern blotting and FISH. But both are expensive and time consuming.
Of late, quantitative PCR is used to assess N-myc amplification and to quantify the amplified products accurately. The quantification of the products is very important in assessing the seriousness of the disease.
Physiology : Oncogenes are genes which have the potential to cause
cancer. These genes are present in everyone, but in some people they become mutated causing cancer.
N-myc gene is an oncogene which is over expressed or amplified in a range of tumors, particularly
neuroblastoma.
Neuroblastoma, the second most common solid tumor in children, was the first human tumor in which increased copies of N-myc oncogene amplification was found responsible for rapid disease progression and poor prognosis.
Normal Range : Increased copy number of N-myc in neuroblastoma is predictive of poor prognosis. Thus the determination of N-myc copy number provides information that has prognostic significance.
Interpretation : The quantitative PCR is capable of distinguishing neuroblastoma or other malignancies from other single copy N-myc conditions. The sensitivity of the assay allows the detection of even as little as a five-fold increase in N-myc.
Increased copy number of N-myc in neuroblastoma is predictive of poor prognosis. Thus the determination of N-myc copy number provides information that has prognostic significance.
The assay could be employed as a primary test for the rapid identification of MYCN-amplified tumors, followed by FISH if necessary.
Sample : Laboratory generally provides an interpretive report.
Test Method : Hybridization technique
Related Tests : Tissue from neuroblastoma
References :
1. http://www.nature.com/labinvest/journal/v80/n2/full/3780030a.html