title: [Analysis of ND4 gene mutations in acute myelogenous leukemia].
abstract: OBJECTIVE
  To investigate the relationship of the mutational status of the ND4 gene and the clinical features of acute myelogenous leukemia (AML) patients with ND4 mutations.
  
  
  METHODS
  Using PCR combined with directly sequencing, we identified somatic mutations of ND4 in 121 primary AML patients to couple with their clinical features.
  
  
  RESULTS
  There were 58 male patients and 63 female patients (median age 49 years, 10-86 years). Eight of 121 patients (6.6%) with de novo AML were found harboring missense mutation of ND4 gene, including 3 patients with A131V (3/8, 37.5%), 2 patients with A404T (2/8, 25%), 1 patient with F149L (1/8, 12.5%), 1 patient with G242D (1/8, 12.5%) and 1 patient with Y409H (1/8, 12.5%), respectively. Patients with ND4 mutations were associated with good karyotype (P=0.049), regardless of gender, age, white blood cell, hemoglobin, platelet, blast cells of bone marrow or immunophenotype (P>0.05). There were no statistical significance in mutations of FLT3-ITD, NPM1, CEBPA, c-KIT and DNMT3A between patients with ND4 mutation and wild-type (wt) ND4 (P>0.05). The median overall survival of patients with ND4 mutations and wt ND4 were all not reached. The median relapse-free survival were not reached and 29(2-53) months, respectively (P>0.05). There was no significance in the ratio of CR and RR patients between wt ND4 and ND4 mutated groups (P>0.05).
  
  
  CONCLUSIONS
  It was concluded that novel ND4 mutations could be found in de novo AML patients, especially in patients with good karyotype. Thus, ND4 mutations might play an important role in AML prognosis. However, whether the mitochondria dysfunction contribute to leukemogenesis needs to be further investigated.
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Chun
authors.initials: C
authors.lastname: Qiao
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Zhou
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Sujiang
authors.initials: S
authors.lastname: Zhang
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Guo
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Fan
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Sixuan
authors.initials: S
authors.lastname: Qian
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Yahong
authors.initials: Y
authors.lastname: Huan
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Yanzhi
authors.initials: Y
authors.lastname: Song
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Haiying
authors.initials: H
authors.lastname: Liao
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Cuiping
authors.initials: C
authors.lastname: Li
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Suqin
authors.initials: S
authors.lastname: Xia
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Xuemei
authors.initials: X
authors.lastname: Sui
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Yinglian
authors.initials: Y
authors.lastname: Lu
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Jianyong
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Hematology, BenQ Medical Center, Nanjing Medical University, Nanjing 210019, China.
authors.forename: Dong
authors.initials: D
authors.lastname: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics*; D000090243:Nucleophosmin; D011379:Prognosis; D055815:Young Adult
chemical_list: C098483:NADH dehydrogenase subunit 4; C000716967:NPM1 protein, human; D000090243:Nucleophosmin; D009245:NADH Dehydrogenase