[Evaluation of MYCN amplification in Iranian patients with neuroblastoma by conventional and real time PCR]

Background: There is an international consensus that evaluation of MYCNamplification should be done in all cases of newly diagnosed neuroblastoma. MYCN is the most important prognostic factor for neuroblastoma and determines treatment strategy

Materials and methods: In this study we evaluated paraffin embedded tissue block and bone marrow aspiration of 75 neuroblastoma patients with mean age of 4.1 years, including 32 female and 43 male, by conventional and also real time quantitative PCR

Results: Forty eight and 43 percent were MYCN amplification positive by Real time and conventional PCR, respectively. 28% of patients less than one year old and 48% of patients older than one year showed MYCN amplification.50 percent of cases with pathological diagnosis of small round cell tumor had MYCN amplification

Conclusion: PCR is a fast, reliable and cost effective method for the evaluation of MYCN amplification and can be performed using DNA extracted from small tissue samples and paraffin embedded blocks. As expected regarding detection power and convenience, Real time PCR was superior to conventional PCR

[Frequency and importance of jak2v617f mutation among Iranian patients with polycythemia vera, essential thrombocythemia and primary myelofibrosis]

Detection of JAK2V617F mutation was widely used in the diagnosis and classification of myeloproliferative neoplasms. In this study, frequency of JAK2V617F mutation among Iranian patients with polycythemia vera [PV], essential thrombocythemia [ET] and primary myelofibrosis [PMF] was studied. In this basic study, blood samples of 174 patients with polycythemia vera [n=57], essential thrombocythemia [n=84] and primary myelofibrosis [n=33] were evaluated for JAK2V617F mutation. Genomic DNA was extracted from peripheral blood. After quality control of extracted DNA, the JAK2-V617F mutation was analyzed using allele-specific PCR. All PCR products were analyzed by polyacrylamide gel [5%] electrophoresis and silver staining. One hundred and eleven out of 174 patients [63.8%] were positive for the presence of the JAK2V617F mutation. Frequency of mutation was 82% [47/57] in PV, 57% [48/84] in ET and 48% [16/33] in PMF. This study showed that detection of JAK2-V617F mutation using allele-specific PCR lead to better diagnosis and treatment of Iranian patients with different MPNs