title: [Immunophenotypic and clinical characteristic analysis of NPM1 mutated acute myeloid leukemia with a normal karyotype].
abstract: This study was purposed to compare the immunophenotypic and clinical characteristics of NPM1 mutated acute myeloid leukemia with a normal karyotype under the similar constituent ratio of FAB subtypes. Immunophenotyping and NPM1 gene mutation type-A,B and D and other leukemic related fusion genes were detected by multiparameter flow cytometry and real time RT-PCR or PCR, respectively. 77 AML patients with a normal karyotype (NK) and mutated NPM1 gene (NPM1m(+)AML) detected by immunophenotyping assay were included in this study. 55 cases without NPM1 mutation (NPM1m(-)AML) and with normal karyotype were served as negative control. The results showed that there was significant difference between NPM1m(+)AML and NPM1m(-)AML in terms of sex, white blood count, platelet counts, blast, WT1 expression level, FLT3-ITD mutation positive rate and response to treatment. The characteristic immunophenotype is lower expression of early differentiation-associated antigens (CD34, HLA-DR, CD117, CD38), lymphocytic antigens (CD7, CD4, CD19, CD2) and higher expression of CD33 and CD123 (P < 0.05). When above features was further analyzed between the M1/2 and M4/5 subgroups in NPM1m(+)AML patients, the M1/2 cases retained a higher frequency in women and a higher WT1 expression level (P < 0.05) . Monocytic differentiation-associated antigens including HLA-DR and lymphocytic antigens CD7 were higher expressed and CD117 was lower expressed in M4/5 subgroup (P < 0.05). It is concluded that under condition of similar constituent ratio of M1/2 and M4/5 subtype and normal karyotype, NPM1m(+)AML patients have higher WT1 expression level and better response to treatment. The major immunophenotype features of NPM1m(+)AML patients are lower expression of early differentiation antigens and lymphoid lineage antigens and higher expression of CD33 and CD123. Monocytic differentiation-associated antigens only higher are expressed in M4/5 cases when compared with M1/2 cases within NPM1m(+) AML patients.
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China. E-mail: yrliu163@163.com.
authors.forename: Yan-Rong
authors.initials: YR
authors.lastname: Liu
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Yue-Yun
authors.initials: YY
authors.lastname: Lai
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Chang
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Guo-Rui
authors.initials: GR
authors.lastname: Ruan
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Ya-Zhen
authors.initials: YZ
authors.lastname: Qin
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Ya-Zhe
authors.initials: YZ
authors.lastname: Wang
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Hong-Hu
authors.initials: HH
authors.lastname: Zhu
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Hong-Xia
authors.initials: HX
authors.lastname: Shi
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Jiang
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Jiang
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Jiang
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Le
authors.initials: L
authors.lastname: Hao
authors.affiliation: Institute of Hematology, People's Hospital of Peking University, Beijing 100044, China.
authors.forename: Jin-Lan
authors.initials: JL
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D016130:Immunophenotyping; D059785:Karyotype; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D000090243:Nucleophosmin; D055815:Young Adult
chemical_list: C000716967:NPM1 protein, human; D009687:Nuclear Proteins; D000090243:Nucleophosmin