title: [Clinical significance of cytogenetic monitoring in chronic myeloid leukemia].
abstract: Objective:To analyze the association of cytogenetic abnormalities with the prognosis of chronic myeloid leukemia (CML) patients in tyrosine kinase inhibitors (TKI) era.Methods:Karyotype analysis of chromosome G-banding was carried out in 387 newly diagnosed CML patients by short-term culture of bone marrow cells. The correlation of cytogenetic abnormalities and CML progression was explored in combination with ABL tyrosine point mutations.Result:Of 387 patients with positive BCR-ABL fusion gene assayed by fluorescence in situ hybridization (FISH) technique, 94.1% (364/387) patients were Ph positive and 5.9% (23/387) Ph negative; 320 patients (87.9%) had a translocation t (9;22) (q34;q11) and 5 (1.4%) a variant translocation t (v;22) . Additional cytogenetic aberrations (ACA) at diagnosis were found in 10.7% (39/387) Ph(+) patients, major route ACA in 22 (56.4%) cases and minor route ACA in 15 (38.5%) cases and 2 patients (5.1%) lacked the Y chromosome (-Y) ; 23.4% (71/303) patients occurred ACA during TKI treatment and the most frequent abnormalities were abnormal chromosome numbersd, which were likely associated with high proportion of disease progression (χ(2)=168.21,P<0.001) and ABL tyrosine point mutations (χ(2)=29.04,P<0.001) . Newly diagnosed CML-CP patients with t (9;22) (q34;q11) had a longer event-free survival (EFS) and disease-free survival (DFS) rates than that of patients with ACA (P=0.037; P=0.003) , while the overall survival (OS) had no significant differences (P=0.209) . As for CML-CP patients that occurred ACA during TKI therapy would have a marked low OS, EFS and DFS (allP<0.001) compared with no ACA occurred patients. Survival of advanced patients that occurred ACA were dramatically reduced.Conclusion:ACA often emerged during the disease progress in CML patients, regular and timely detection of chromosomes karyotype and ABL tyrosine point mutations during TKI treatment was important for therapeutic evaluation, progress and prognosis of CML.
authors.affiliation: Department of Hematology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China.
authors.forename: C Y
authors.initials: CY
authors.lastname: Pan
authors.forename: N
authors.initials: N
authors.lastname: Xu
authors.forename: B L
authors.initials: BL
authors.lastname: He
authors.forename: R
authors.initials: R
authors.lastname: Cao
authors.forename: L B
authors.initials: LB
authors.lastname: Liao
authors.forename: C X
authors.initials: CX
authors.lastname: Yin
authors.forename: Y Q
authors.initials: YQ
authors.lastname: Lan
authors.forename: Z Y
authors.initials: ZY
authors.lastname: Lu
authors.forename: J X
authors.initials: JX
authors.lastname: Huang
authors.forename: J
authors.initials: J
authors.lastname: Sun
authors.forename: R
authors.initials: R
authors.lastname: Feng
authors.forename: Q F
authors.initials: QF
authors.lastname: Liu
authors.forename: X L
authors.initials: XL
authors.lastname: Liu
mesh_terms: D001854:Bone Marrow Cells; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D018450:Disease Progression; D018572:Disease-Free Survival; D016044:Fusion Proteins, bcr-abl; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive; D010677:Philadelphia Chromosome; D017354:Point Mutation; D011379:Prognosis; D014178:Translocation, Genetic
chemical_list: D016044:Fusion Proteins, bcr-abl
keywords: Additional cytogenetic aberrations; Leukemia, myelogenous, chronic, BCR-ABL positive; Philadelphia chromosome; Point mutations