PMID- 31099482
OWN - NLM
STAT- MEDLINE
DCOM- 20191210
LR  - 20211204
IS  - 1751-553X (Electronic)
IS  - 1751-5521 (Linking)
VI  - 41
IP  - 4
DP  - 2019 Aug
TI  - Cytogenetics and associated mutation profile in patients with acute monocytic 
      leukemia.
PG  - 485-492
LID - 10.1111/ijlh.13030 [doi]
AB  - INTRODUCTION: Cytogenetics and molecular testings for disease classifying and 
      prognosis estimation are becoming routine in clinical practice. However, the 
      molecular characteristics of acute monocytic leukemia (AML-M5) remain unclear. 
      The aim of this study was to investigate the association between karyotypes and 
      gene mutations, especially in AML-M5 patients with 11q23/KMT2A (MLL) 
      rearrangement and normal karyotype. METHODS: A total of 126 de novo AML-M5 
      patients were screened for mutations in the 51 genes known or suspected to have a 
      role in myeloid malignancies or in monocytic differentiation using 
      next-generation sequencing (NGS). Chromosome karyotype analysis was performed by 
      R-banding method and further confirmed either by fluorescence in situ 
      hybridization (FISH) and/or by multiple reverse transcription polymerase chain 
      reaction (multiple RT-PCR). RESULTS: Of the 126 patients, one or more mutations 
      were detected in 83.3% patients. FLT3-ITD and NRAS had the highest mutation 
      frequency, followed by NPM1, DNMT3A, TET2, KRAS, and RUNX1. We also identified a 
      significant difference in mutational spectrums between KMT2A-rearranged (KMT2Ar) 
      patients and normal karyotype (NK) patients, as reflected in the average number 
      of gene mutations per patient (1.66 vs 2.46), and in the frequencies of commonly 
      mutated genes (FLT3-ITD: 6% vs 43.5%; NPM1: 0% vs 43.5%; RUNX1: 2.0% vs 15.2%; 
      DNMT3A: 4% vs 26.1%; KRAS: 24.0% vs 4.35%). Patients harboring >/=3 mutations 
      showed much lower complete remission rate than that with double mutations 
      (P = 0.043) in high-risk group. CONCLUSION: There was a significantly different 
      mutation profile between KMT2Ar-patients and NK patients. Our research provided 
      new insight into the molecular characteristics of AML-M5.
CI  - (c) 2019 John Wiley & Sons Ltd.
FAU - Xing, Shanshan
AU  - Xing S
AUID- ORCID: 0000-0001-8917-4792
AD  - Department of Hematology, Zhejiang Hospital, Hangzhou, China.
FAU - Wang, Biao
AU  - Wang B
AD  - Department of Hematology, The Third Affiliated Hospital of Soochow University, 
      Changzhou, China.
FAU - Gao, Yu
AU  - Gao Y
AD  - Department of Hematology, Zhejiang Hospital, Hangzhou, China.
FAU - Li, Mengjie
AU  - Li M
AD  - Department of Hematology, Zhejiang Hospital, Hangzhou, China.
FAU - Wang, Tong
AU  - Wang T
AD  - Department of Hematology, Zhejiang Hospital, Hangzhou, China.
FAU - Sun, Yiwu
AU  - Sun Y
AD  - Department of Hematology, Affiliated Changzhou Second Hospital of Nanjing Medical 
      University, Changzhou, China.
FAU - Shen, Yimin
AU  - Shen Y
AD  - Department of Hematology, Zhejiang Hospital, Hangzhou, China.
FAU - Chao, Hongying
AU  - Chao H
AUID- ORCID: 0000-0003-3836-9260
AD  - Department of Hematology, Affiliated Changzhou Second Hospital of Nanjing Medical 
      University, Changzhou, China.
LA  - eng
GR  - CJ20140060/Applied Basic Research Project of Changzhou City/
GR  - 81500103/National Natural Science Foundation of China/
PT  - Journal Article
DEP - 20190517
PL  - England
TA  - Int J Lab Hematol
JT  - International journal of laboratory hematology
JID - 101300213
RN  - 0 (NPM1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 117896-08-9 (Nucleophosmin)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - Female
MH  - Gene Rearrangement
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Monocytic, Acute/*genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Neoplasm Proteins/*genetics
MH  - Nucleophosmin
MH  - Reverse Transcriptase Polymerase Chain Reaction
OTO - NOTNLM
OT  - KMT2A rearrangement
OT  - acute monocytic leukemia
OT  - next-generation sequencing
OT  - normal karyotype
EDAT- 2019/05/18 06:00
MHDA- 2019/12/18 06:00
CRDT- 2019/05/18 06:00
PHST- 2018/10/10 00:00 [received]
PHST- 2019/03/11 00:00 [revised]
PHST- 2019/03/15 00:00 [accepted]
PHST- 2019/05/18 06:00 [pubmed]
PHST- 2019/12/18 06:00 [medline]
PHST- 2019/05/18 06:00 [entrez]
AID - 10.1111/ijlh.13030 [doi]
PST - ppublish
SO  - Int J Lab Hematol. 2019 Aug;41(4):485-492. doi: 10.1111/ijlh.13030. Epub 2019 May 
      17.