title: [Analysis of DNMT3a mutation in childhood acute myeloid leukemia].
abstract: Within the past few years, the invention of next-generation sequencing has revealed several new genes associated with tumor formation and development, for example DNMT3a. This gene is an independent prognostic factor for acute myeloid leukemia (AML). The objective of this study was to analyze the DNMT3a mutation in childhood AML in a single center. PCR amplification of the entire coding region of DNMT3a was performed using 23 overlapping primer pairs in 57 patients who were diagnosed in Blood Disease Hospital of Chinese Academy of Medical Sciences, then the directly sequencing was underwent. The results showed that no DNMT3a mutation was found in these patients including the hotspot R882. But AML1/ETO mutation was found in 10 patients, CBFB/MYH11 mutation in 3 patients, PML/RARa mutation in 13 patients, FLT3/ITD mutation in 5 patients, FLT3/TKD mutation in 1 patient, PML/RARa and FLT3/TKD mutation coexisted in 2 patients. It is concluded that DNMT3a mutations are rare in childhood AML, and different mechanisms of myeloid leukemogenesis between childhood and adults maybe involved.
authors.affiliation: Center for Diagnosis and Therapy of Childhood Hematologic Diseaces, Blood Disease Hospital & Institute of Hematology, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjing 300020, China.
authors.forename: Jian-Feng
authors.initials: JF
authors.lastname: Zhou
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Hui-Min
authors.initials: HM
authors.lastname: Zeng
authors.forename: Ya-Qin
authors.initials: YQ
authors.lastname: Wang
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Yi
authors.forename: Wen-Bin
authors.initials: WB
authors.lastname: An
authors.forename: Li-Xian
authors.initials: LX
authors.lastname: Chang
authors.forename: Yao
authors.initials: Y
authors.lastname: Zou
authors.forename: Yu-Mei
authors.initials: YM
authors.lastname: Chen
authors.forename: Xiao-Fan
authors.initials: XF
authors.lastname: Zhu
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004248:DNA (Cytosine-5-)-Methyltransferases / Q000235:genetics*; D000090205:DNA Methyltransferase 3A; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D009154:Mutation
chemical_list: C000717967:DNMT3A protein, human; D004248:DNA (Cytosine-5-)-Methyltransferases; D000090205:DNA Methyltransferase 3A