Expression profiling of microarray gene signatures in acute and chronic myeloid leukaemia in human bone marrow.

BACKGROUND: Classification of cancer subtypes by means of microarray signatures is becoming increasingly difficult to ignore as a potential to transform pathological diagnosis; nonetheless, measurement of Indicator genes in routine practice appears to be arduous. In a preceding published study, we utilized real-time PCR measurement of Indicator genes in acute lymphoid leukaemia (ALL) and acute myeloid leukaemia (AML) as a way of application of microarray gene signatures. More to the point, the specificity of such genes for this distinction was investigated by their measurement in cases afflicted with chronic myeloid leukaemia (CML) and with normal bone marrow (BM). MATERIAL AND METHOD: Mononuclear cells were sorted into unselected (total), CD34+ve, and CD34-ve fractions, mRNA globally amplified by using PolyA PCR. Moreover, the level of expression of 17 Indicator genes was identified by using real-time PCR. RESULTS: No statistically significant difference was observed in expression for any gene among CML cases. Cyclin D3 (p≤0.04) was exclusively upregulated in CML in the CD34+ fraction, notwithstanding upregulation of HkrT-1 (p≤0.02) and fumarylacetoacetate (p≤0.03) in AML. HOXA9 experienced a non-significant upregulation in AML; however, in combination with proteoglycan 1 distinguished between AML and normal samples in the CD34- fraction in unsupervised clustering. Unsupervised clustering distinguished among AML and the other diagnostic groups. CONCLUSION: The evidence from the present study suggests that the genes discriminatory between ALL and AML are uninformative in the context of CML and normal BM, excepting for distinction with AML.

MYCN gene amplification in patients with neuroblastic tumors.

Although neuroblastic tumors are the most prevalent solid tumors, little is known about the genetic basis underlying their progression. The prognostic role for the MYCN gene in neuroblastic tumors is irrefutable. The aim of this study is to identify the frequency of MYCN gene amplification and its relationship with clinicopathological and prognostic factors in 40 patients with neuroblastic tumors by using real-time quantitative PCR. There was significant association between the age of older than 18 months and the high number of metastasis. 83.3% of metastatic neuroblastic tumors in patients aged more than 18 months were in stage 4, while it was about 12.5% in patients aged less than 18 months. We found an amplification of MYCN in 19 out of 40 patients. Also, we found MYCN gene amplification in 64% of neuroblastoma (NB) and 8% of gangelioneuroblastoma (GNB) cases. There was a significant association between the histological type of samples with MYCN gene amplification. Neuroblastic tumors have a varied range of MYCN gene amplification depend on histopathology types. No significant associations have been found between MYCN gene amplification and tumor evaluation, CNS involvement, metastasis, stage of disease and patients outcome.

Diagnostic accuracy of Doppler ultrasonography in differentiation between malignant and benign cervical lymphadenopathies in pediatric age group.

Cervical lymphadenopathy is a relatively common finding in pediatric age group and is caused by a wide spectrum of diseases from transient infections to malignancies especially lymphomas. The present study was aimed at evaluating the diagnostic performance of grey-scale ultrasonography, color Doppler ultrasonography and power Doppler ultrasonography in differentiation of reactively and metastatically enlarged cervical lymph nodes in pediatric age group. Fifty children with cervical lymphadenopathies were assessed by ultrasonographic methods. In each patient, the longest (L) and transverse (T) diameters, L/T ratio and presence or absence of the normal hilar pattern were checked by grey-scale ultrasonography. Spectral parameters (resistive and pulsatility indices) and vascular distribution pattern of nodes were recorded by color and power Doppler ultrasonography, respectively. Following the ultrasonographic evaluations, biopsy and/or clinical follow up was applied for six months, based on the clinical and paraclinical findings. Statistical analyses were performed by chi-square test, independent t-test and receiver operator characteristic curves. The mean age of patients was 12.42 +/- 2.42 years. Twenty eight patients (56%) had malignant enlargement of lymph nodes. The mean value of L/T ratio in malignant group was 1.70 +/- 0.22 and 2.40 +/- 0.38 in non-malignant nodes (p < 0.001). Sensitivity, specificity and accuracy of combined grey-scale and power Doppler ultrasonography were 70, 86 and 81%, respectively. Combination of grey-scale and power Doppler ultrasonography is recommended for the differentiation between the malignant and benign lymphadenopathies in children. Moreover, our findings revealed no diagnostic role of color Doppler ultrasonography in the selection of malignant cervical lymph nodes in children.

Cardiac involvement of major thalassemia and evaluation of total serum creatine kinase and creatine kinase-mB isoenzyme and cardiac troponinI in these patients.

The goal of this study was the evaluation of specific markers of myocardial injury that includes CK-MB and troponin I in major thalassemic patients. Regular blood transfusion is the main treatment in major thalassemia. One of the most important complications of regular blood transfusion is iron overload that eventually involves many organs like heart and cause myocardial injury. Sixty patients with transfusion-dependent major thalassemia, at the age range of 8 to 15 years in Tabriz Pediatric Medical Center were chosen. Measurement of Hb, Hct and serum ferritin were performed in hospital laboratory, but total serum Creatine Kinase (CK) by photometric and isoenzyme of CK-MB by immunologic DGKC and cardiac troponin I (cTnI) were tested by ELISA methods in Shaheed Madani heart center laboratory before blood transfusion. For all patients echocardiography and ECG assessment of cardiac function were done by a pediatric cardiologist and results were statistically analyzed. Forty nine patients (group A) had normal left ventricular ejection fraction (LVEF = 50-70%) and 11 patients (group B) had reduced LVEF (20-45%). There was no statistical difference between two groups in average volume of blood transfusion (p = 0.074). Although total CK and CK-MB isoenzyme were higher in group B but there was no statistically meaningful difference between two groups (p = 0.123, p = 0.111). Troponin I also was higher in group B but statistically analysis showed no correlation between cardiac function and troponin I level in these groups (p = 0.827). This study showed that cardiac markers are not helpful for recognition of cardiac involvement in major thalassemia.