PMID- 19407829
OWN - NLM
STAT- MEDLINE
DCOM- 20091215
LR  - 20220331
IS  - 1435-232X (Electronic)
IS  - 1434-5161 (Linking)
VI  - 54
IP  - 6
DP  - 2009 Jun
TI  - Molecular cloning of t(2;7)(p24.3;p14.2), a novel chromosomal translocation in 
      myelodysplastic syndrome-derived acute myeloid leukemia.
PG  - 355-9
LID - 10.1038/jhg.2009.40 [doi]
AB  - In this study, we report the molecular structure of the breakpoint region in a 
      new chromosomal translocation, t(2;7)(p24.3;p14.2), in a case of acute myeloid 
      leukemia transformed from myelodysplastic syndrome (MDS). An extensive 
      fluorescence in situ hybridization (FISH) analysis showed that NAG (2p24.3) and 
      ELMO1 (7p14.2) were involved at the breakpoints of t(2;7)(p24.3;p14.2). 
      Furthermore, we detected a novel chimeric transcript consisting of NAG and ELMO1. 
      Interestingly, this transcript encoded a truncated molecular form of 3'ELMO1 as 
      the result of a frameshift caused by the chromosomal translocation. Although this 
      study does not provide direct evidence that a defect in NAG-ELMO1 plays a role in 
      the pathogenesis or the leukemic change in MDS, it does suggest that defects in 
      NAG-ELMO1 potentially contributed to the leukemic progression in this case.
FAU - Fujita, Kazuhiro
AU  - Fujita K
AD  - Division of Hematology, Showa University Fujigaoka Hospital, Yokohama, Japan.
FAU - Sanada, Masashi
AU  - Sanada M
FAU - Harada, Hiroshi
AU  - Harada H
FAU - Mori, Hiraku
AU  - Mori H
FAU - Niikura, Haruo
AU  - Niikura H
FAU - Omine, Mitsuhiro
AU  - Omine M
FAU - Inazawa, Johji
AU  - Inazawa J
FAU - Imoto, Issei
AU  - Imoto I
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20090501
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (ELMO1 protein, human)
RN  - 0 (NBAS protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (RNA, Messenger)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing/genetics
MH  - Amino Acid Sequence
MH  - Chromosome Breakage
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - Cloning, Molecular
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Myelomonocytic, Acute/complications/*genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Myelodysplastic Syndromes/complications/*genetics/pathology
MH  - Neoplasm Proteins/genetics
MH  - RNA, Messenger/genetics/metabolism
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - *Translocation, Genetic
EDAT- 2009/05/02 09:00
MHDA- 2009/12/16 06:00
CRDT- 2009/05/02 09:00
PHST- 2009/05/02 09:00 [entrez]
PHST- 2009/05/02 09:00 [pubmed]
PHST- 2009/12/16 06:00 [medline]
AID - jhg200940 [pii]
AID - 10.1038/jhg.2009.40 [doi]
PST - ppublish
SO  - J Hum Genet. 2009 Jun;54(6):355-9. doi: 10.1038/jhg.2009.40. Epub 2009 May 1.