PMID- 22886961
OWN - NLM
STAT- MEDLINE
DCOM- 20140909
LR  - 20211021
IS  - 1672-0733 (Print)
IS  - 1672-0733 (Linking)
VI  - 32
IP  - 4
DP  - 2012 Aug
TI  - Combination of cytogenetic analysis and molecular screening in patients with de 
      novo acute myeloid leukemia.
PG  - 501-510
LID - 10.1007/s11596-012-0087-6 [doi]
AB  - Nowadays the role of genetic findings in determining the diagnosis, therapy and 
      prognosis of acute myeloid leukemia (AML) has become more valuable. To improve 
      and validate the detection of clonal chromosomal aberrations in leukemia, we 
      designed a combined application of karyotyping with multiplex reverse 
      transcription-polymerase chain reaction (RT-PCR) and fluorescence in situ 
      hybridization (FISH), and addressed the expression and distribution of fusion 
      genes among the subtypes of Chinese adult patients with de novo AML. Multiplex 
      RT-PCR assays were performed on 477 samples from newly diagnosed AML patients, 
      and cytogenetic data were obtained from 373 of them by R or G banding techniques 
      and those in some cases were confirmed by FISH. The PCR products in some 
      suspected cases were tested by two-directional sequencing. The results showed 
      that except unqualified samples, fusion genes were detected by multiplex RT-PCR 
      in 211 of 474 patients (44.51%), including AML1-ETO, CBFbeta-MYH11, PML-RARalpha, 
      PLZF-RARalpha, NPM-RARalpha, MLL rearrangements, BCR-ABL, DEK-CAN, SET-CAN, TEL-PDGFR, 
      TLS-ERG, AML1-MDS1 (EVI-1). In 373 patients, who took both multiplex RT-PCR and 
      karyotype analysis, the detection rate of chromosomal aberrations by using 
      multiplex RT-PCR and karyotyping was 160/373 (42.89%) and 179/373 (47.98%) 
      respectively, and the combination could optimize the detection rate of clonal 
      genetic abnormalities to 216/373 (57.90%). The PCR results from 11 cases "normal" 
      in karyotyping but abnormal in RT-PCR for MLL rearrangements were confirmed by 
      two-directional sequencing. It is concluded that karyotype studies remain the 
      cornerstone for genetic testing; conventional cytogenetics and molecular-based 
      methods are complementary tests for the detection of clonal genetic aberrations 
      in AML, especially for the cryptic or submicroscopic aberrations. Once a genetic 
      marker has been identified by combined analysis, it could be used to monitor 
      residual disease during/after chemotherapy, by quantitative RT-PCR and/or FISH.
FAU - Geng, Zhe
AU  - Geng Z
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
FAU - Zhang, Heng
AU  - Zhang H
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
FAU - Wang, Di
AU  - Wang D
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
FAU - Xiao, Yi
AU  - Xiao Y
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
FAU - Wang, Na
AU  - Wang N
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
FAU - Li, Chunrui
AU  - Li C
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
FAU - Huang, Liang
AU  - Huang L
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China. 
      lhuang@tjh.tjmu.edu.cn.
FAU - Zhou, Jianfeng
AU  - Zhou J
AD  - Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong 
      University of Science and Technology, Wuhan, 430030, China.
LA  - eng
PT  - Journal Article
DEP - 20120811
PL  - China
TA  - J Huazhong Univ Sci Technolog Med Sci
JT  - Journal of Huazhong University of Science and Technology. Medical sciences = Hua 
      zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. 
      Yixue Yingdewen ban
JID - 101169627
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Cytogenetic Analysis/methods
MH  - Humans
MH  - Leukemia, Myeloid, Acute/*diagnosis/*genetics
MH  - Middle Aged
MH  - Young Adult
EDAT- 2012/08/14 06:00
MHDA- 2014/09/10 06:00
CRDT- 2012/08/14 06:00
PHST- 2011/06/02 00:00 [received]
PHST- 2012/08/14 06:00 [entrez]
PHST- 2012/08/14 06:00 [pubmed]
PHST- 2014/09/10 06:00 [medline]
AID - 10.1007/s11596-012-0087-6 [pii]
AID - 10.1007/s11596-012-0087-6 [doi]
PST - ppublish
SO  - J Huazhong Univ Sci Technolog Med Sci. 2012 Aug;32(4):501-510. doi: 
      10.1007/s11596-012-0087-6. Epub 2012 Aug 11.