title: [Clinical and experimental characteristics of 20 patients with acute myeloid leukemia with complex variant of t(8; 21)].
abstract: This study was aimed to summarize and analyze the morphology, immunophenotype, cytogenetics, molecular biology (MICM), tyrosine kinase (TK) gene mutations and clinical features of acute myeloid leukemia (AML) with complex variant of t(8;21). A retrospective study was performed for 20 AML patients with complex variant of t(8;21) in our hospital from January 1994 to April 2012, including analysis of clinical feature, immunophenotype, chromosome karyotype, treatment regimen, as well as the overall survival (OS) and relapse-free survival (RFS). Mutations of C-KIT, FLT3-ITD, FLT3-TKD and JAK2V617F were detected by genomic DNA PCR and the sequencing was per-formed in 13 AML patients with complex variant of t(8;21). The results showed that (1) the incidence of 20 AML patients with complex variant of t(8; 21) was 2.4% of total t(8; 21) AML patients. In 20 AML patients with complex variant of t(8;21), 1 case was M1, 17 cases were M2, 2 cases were M4; 10 cases were myeloid phenotype and the other 3 were myeloid plus lymphoid phenotype. There were 16 kinds of cytogenetics additional involvement of chromosomal breakpoints: lp22, 1p32, 2q35, 2q14, 3p25, 5q13, 6p22, 7q21, llq11, 1lq13, 12q14, 12q24, 12p12, 14q32, 15p13, 20q12. (2) C-KIT aberrations were detected in 30.8% cases, all mutated in exon 17 (mutkit 17), only 1 case had JAK2V617F mutation. The result of FLT3 mutation screenings in AML patients with complex variant of t(8; 21) was negative. Of 5 patients with gene mutations, 1 patient (20%) achieved complete remission (CR), the median RFS and median OS time were 6.5 months and 8.9 months respectively. Of the 8 patients without gene mutations, 6 patietns (75%) achieved CR; the median RFS and median OS time were 26.6 months and 27.7 months respectively. It is concluded that the AML patients with complex variant of t(8;21) shows typical features of t(8;21) AML, but the existence of the tyrosine kinase-related gene mutation has important implications on remission rate and long-term survival of patients treated by induction chemotherapy.
authors.affiliation: Jiangsu Institute of Hematology, Department of Hematology, the First Affiliated Hospital of Soochow University, Key Laboratory of Thrombosis and Hemostasis of Ministry of Health, Suzhou 215006, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Xia
authors.forename: Su-Ning
authors.initials: SN
authors.lastname: Chen
authors.forename: Jin-Lan
authors.initials: JL
authors.lastname: Pan
authors.forename: Qin-Rong
authors.initials: QR
authors.lastname: Wang
authors.forename: Ya-Fang
authors.initials: YF
authors.lastname: Wu
authors.forename: Yong
authors.initials: Y
authors.lastname: Wang
authors.forename: Jun
authors.initials: J
authors.lastname: Zhang
authors.forename: Juan
authors.initials: J
authors.lastname: Shen
authors.forename: Yong-Quan
authors.initials: YQ
authors.lastname: Xue
authors.forename: Chang-Geng
authors.initials: CG
authors.lastname: Ruan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D012189:Retrospective Studies; D014178:Translocation, Genetic; D055815:Young Adult
chemical_list: D011505:Protein-Tyrosine Kinases