PMID- 29957452
OWN - NLM
STAT- MEDLINE
DCOM- 20190911
LR  - 20190911
IS  - 1943-7811 (Electronic)
IS  - 1525-1578 (Linking)
VI  - 20
IP  - 4
DP  - 2018 Jul
TI  - Development of a Fluorescence in Situ Hybridization Probe for Detecting IKZF1 
      Deletion Mutations in Patients with Acute Lymphoblastic Leukemia.
PG  - 446-454
LID - S1525-1578(17)30412-9 [pii]
LID - 10.1016/j.jmoldx.2018.02.005 [doi]
AB  - Intragenic deletion of IKZF1 is a recurrent genomic alteration in acute 
      lymphoblastic leukemia. The deletions are mediated by illegitimate 
      variable(diversity)joining recombination via cryptic recombination signal 
      sequences (RSSs). We developed a fluorescence in situ hybridization (FISH) probe 
      set that can detect any type of IKZF1 deletion, including the commonly deleted 
      exon 4 to 7 region. The probe set consists of a designed probe for the commonly 
      deleted region (Cy3; red) and a bacterial artificial chromosomes clone probe for 
      detecting the 3' flanking region (Spectrum Green). Intact IKZF1 showed a fusion 
      signal, and the deleted allele showed loss of the red signal (0R1G1F). The FISH 
      probes worked correctly for human leukemic cell lines and clinical samples. One 
      case showed an atypical break-apart signal (1R1G1F). Inverse PCR of the case 
      revealed rearrangement of the excised IKZF1 fragment into a legitimate RSS site 
      at Ig kappa on chromosome 2, suggesting a pathogenic role of this 
      recombination-activating gene 1/2-mediated event. In this study, we established 
      FISH probe detecting IKZF1 deletion in a quick, quantitative, and cost-effective 
      manner, and the results provided a novel insight into B-cell receptor editing by 
      rearrangement of a cryptic RSS-mediated genomic fragment in acute lymphoblastic 
      leukemia pathology.
CI  - Copyright (c) 2018 American Society for Investigative Pathology and the Association 
      for Molecular Pathology. Published by Elsevier Inc. All rights reserved.
FAU - Hashiguchi, Junichi
AU  - Hashiguchi J
AD  - Department of Hematology, Hokkaido University Faculty of Medicine, Graduate 
      School of Medicine, Sapporo, Japan.
FAU - Onozawa, Masahiro
AU  - Onozawa M
AD  - Department of Hematology, Hokkaido University Faculty of Medicine, Graduate 
      School of Medicine, Sapporo, Japan. Electronic address: 
      masahiro.onozawa@nifty.ne.jp.
FAU - Oguri, Satoshi
AU  - Oguri S
AD  - Division of Laboratory and Transfusion Medicine, Hokkaido University Hospital, 
      Sapporo, Japan.
FAU - Fujisawa, Shinichi
AU  - Fujisawa S
AD  - Division of Laboratory and Transfusion Medicine, Hokkaido University Hospital, 
      Sapporo, Japan.
FAU - Tsuji, Masahisa
AU  - Tsuji M
AD  - Chromosome Science Lab, Sapporo, Japan.
FAU - Okada, Kohei
AU  - Okada K
AD  - Department of Hematology, Hokkaido University Faculty of Medicine, Graduate 
      School of Medicine, Sapporo, Japan.
FAU - Nakagawa, Masao
AU  - Nakagawa M
AD  - Department of Hematology, Hokkaido University Faculty of Medicine, Graduate 
      School of Medicine, Sapporo, Japan.
FAU - Hashimoto, Daigo
AU  - Hashimoto D
AD  - Department of Hematology, Hokkaido University Faculty of Medicine, Graduate 
      School of Medicine, Sapporo, Japan.
FAU - Kahata, Kaoru
AU  - Kahata K
AD  - Department of Hematology, Hokkaido University Faculty of Medicine, Graduate 
      School of Medicine, Sapporo, Japan.
FAU - Kondo, Takeshi
AU  - Kondo T
AD  - Department of Hematology, Hokkaido University Faculty of Medicine, Graduate 
      School of Medicine, Sapporo, Japan.
FAU - Shimizu, Chikara
AU  - Shimizu C
AD  - Division of Laboratory and Transfusion Medicine, Hokkaido University Hospital, 
      Sapporo, Japan.
FAU - Teshima, Takanori
AU  - Teshima T
AD  - Department of Hematology, Hokkaido University Faculty of Medicine, Graduate 
      School of Medicine, Sapporo, Japan.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Mol Diagn
JT  - The Journal of molecular diagnostics : JMD
JID - 100893612
RN  - 0 (IKZF1 protein, human)
RN  - 0 (RNA Probes)
RN  - 148971-36-2 (Ikaros Transcription Factor)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Base Sequence
MH  - Cell Line, Tumor
MH  - Child
MH  - Female
MH  - Humans
MH  - Ikaros Transcription Factor/*genetics
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Interphase
MH  - Male
MH  - Middle Aged
MH  - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics
MH  - RNA Probes/*metabolism
MH  - Sequence Deletion/*genetics
MH  - Young Adult
EDAT- 2018/06/30 06:00
MHDA- 2019/09/12 06:00
CRDT- 2018/06/30 06:00
PHST- 2017/10/20 00:00 [received]
PHST- 2018/02/26 00:00 [revised]
PHST- 2018/02/27 00:00 [accepted]
PHST- 2018/06/30 06:00 [entrez]
PHST- 2018/06/30 06:00 [pubmed]
PHST- 2019/09/12 06:00 [medline]
AID - S1525-1578(17)30412-9 [pii]
AID - 10.1016/j.jmoldx.2018.02.005 [doi]
PST - ppublish
SO  - J Mol Diagn. 2018 Jul;20(4):446-454. doi: 10.1016/j.jmoldx.2018.02.005.