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Published on: September 20, 2016
[Copy number variations in pediatric acute myeloid leukemia]
Jia-Yuan Zhang1, Li Zhang1, Min Ruan1
1Diagnostic and Therapeutic Center of Pediatric Blood Diseases Blood Diseases Hospital & Institute of Hematology, Chinese Academy of Medical Sciences & Peking Unian Medical College, Tianjin 300020, China.
Objective:
To evaluate the copy number variations (CNV) of gene in pediatric acute myeloid leukemia (AML) and its correlation with clinical features and prognosis.
Methods:
The clinical data of 130 children aged <14 years with newly diagnosed AML from May 2006 to March 2013 were analyzed restrospectively. The CNV were analyzed by multiplex ligation-dependent probe amplification (MLPA). Thirty-eight normal children were selected in control group. All the data were statistically analyzed using SPSS16.0 software.
Results:
gene CNV of 2p24.3(MYCN), 10q23(PTEN) and 13q14(RB1, MIR15A, DLEU) were detected in more than 10% of the patients. CNV were detected in 49 cases(37.7%). The median loss and gain CNV frequencies per sample were 4. The CNV of TP53 correlated significantly with relapse. The loss ond gain CNV have no influence to EFS, DSF and OS. CNV were detected in the twelve percent of patients, but they were not detected with routine karyotype method.
Conclusion:
The MLPA technique combined with karyotyping makes a substantial increase in the diagnostic rate. Patients with TP53 alterations have significantly higher relapse rate.
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