PMID- 7833479
OWN - NLM
STAT- MEDLINE
DCOM- 19950302
LR  - 20210216
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 85
IP  - 3
DP  - 1995 Feb 1
TI  - Molecular characterization of 16p deletions associated with inversion 16 defines 
      the critical fusion for leukemogenesis.
PG  - 772-9
AB  - The inversion of chromosome 16 [inv(16)] in acute myeloid leukemia (AML) is 
      associated with a p-arm deletion in a subset of patients. The inversion results 
      in two fusion genes: 5'-CBFB/MYH11-3' on 16p and 5'-MYH11/CBFB-3' on 16q. We have 
      studied cells from 42 patients with inv(16) (38 patients) or t(16;16) (four 
      patients) to define the frequency and characteristics of the deletion further. 
      Using fluorescence in situ hybridization (FISH) with probes from cosmids, cosmid 
      contigs, and yeast artificial chromosomes (YACs), we found that six patients with 
      inv(16) had a deletion of between 150 and 350 kb centromeric to the p-arm 
      inversion breakpoint cluster region (p-ibc). This region was shown to contain the 
      5' portion of the myosin heavy chain (MYH11) gene. YACs containing the p-ibc, 
      which had been useful as FISH probes in the diagnosis of inv(16), detected the 
      inversion in deletion as well as nondeletion patient cells. Thus, the deleted 
      region identified in patients is entirely contained within the human genomic 
      content of the YACs. Southern blot experiments using probes flanking the p-ibc 
      indicated that the deletion removes segments within 10 kb centromeric of the 
      p-ibc. Reverse transcription-polymerase chain reaction (RT-PCR) using primers 
      from the 5' region of CBFB and the 3' region of MYH11 (distal to the p-ibc) 
      produced the 5'-CBFB/MYH11-3' chimeric transcript in inv(16)/del patients. These 
      data confirm that the 5'-CBFB/MYH11-3' chimeric transcript, rather than the 
      reciprocal 5'-MYH11/CBFB-3', is the critical product for chromosome 16-related 
      leukemogenesis.
FAU - Marlton, P
AU  - Marlton P
AD  - Department of Hematology, University of Texas M.D. Anderson Cancer Center, 
      Houston 77030.
FAU - Claxton, D F
AU  - Claxton DF
FAU - Liu, P
AU  - Liu P
FAU - Estey, E H
AU  - Estey EH
FAU - Beran, M
AU  - Beran M
FAU - LeBeau, M
AU  - LeBeau M
FAU - Testa, J R
AU  - Testa JR
FAU - Collins, F S
AU  - Collins FS
FAU - Rowley, J D
AU  - Rowley JD
FAU - Siciliano, M J
AU  - Siciliano MJ
LA  - eng
GR  - CA34936/CA/NCI NIH HHS/United States
GR  - CA49639/CA/NCI NIH HHS/United States
GR  - CA55164/CA/NCI NIH HHS/United States
GR  - etc.
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Transcription Factors)
RN  - EC 3.6.4.1 (Myosins)
SB  - IM
GS  - 5'-CBFB
GS  - CBFB
GS  - MYH11
GS  - MYH11-3'
MH  - Acute Disease
MH  - Base Sequence
MH  - Cell Line
MH  - *Chromosome Deletion
MH  - *Chromosome Inversion
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 16
MH  - Cloning, Molecular
MH  - DNA-Binding Proteins/*genetics
MH  - Exons
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Leukemia, Myeloid/classification/*genetics
MH  - Molecular Sequence Data
MH  - Myosins/*genetics
MH  - *Neoplasm Proteins
MH  - Polymerase Chain Reaction
MH  - Transcription Factors/*genetics
MH  - Tumor Cells, Cultured
EDAT- 1995/02/01 00:00
MHDA- 1995/02/01 00:01
CRDT- 1995/02/01 00:00
PHST- 1995/02/01 00:00 [pubmed]
PHST- 1995/02/01 00:01 [medline]
PHST- 1995/02/01 00:00 [entrez]
AID - S0006-4971(20)68851-6 [pii]
PST - ppublish
SO  - Blood. 1995 Feb 1;85(3):772-9.