PMID- 14623463
OWN - NLM
STAT- MEDLINE
DCOM- 20040107
LR  - 20220408
IS  - 0165-4608 (Print)
IS  - 0165-4608 (Linking)
VI  - 147
IP  - 2
DP  - 2003 Dec
TI  - Insertion (21;8)(q22;q22q22): a masked t(8;21) in a patient with acute myelocytic 
      leukemia.
PG  - 134-9
AB  - A 43-year-old man was diagnosed with acute myelocytic leukemia with cellular 
      maturation (AML-M2, according to the French-American-British classification 
      criteria). A cytogenetic study with a G-banding method initially reported the 
      karyotype as 45,X,-Y; however, dual-color, dual-fusion fluorescence in situ 
      hybridization (FISH) with probes for the AML1 and the ETO genes showed an unusual 
      pattern of signals, presenting one fusion signal on chromosome 21. Molecular 
      study by reverse transcriptase polymerase chain reaction revealed the presence of 
      a typical AML1/ETO chimeric gene. FISH with whole-chromosome painting probes 
      targeting chromosomes 8 and 21 revealed insertion of part of 8 chromosome into 
      the long arm of chromosome 21. We concluded that complicated translocations 
      involving chromosomes 8 and 21 in this patient resulted in the development of the 
      chimeric gene, AML1/ETO, on the long arm of chromosome 21. This aberrant location 
      of AML1/ETO gene and the final karyotype of 45,X,-Y,ins(21;8)(q22;q22q22) could 
      not be determined without molecular analysis. This abnormality is considered a 
      masked t(8;21).
FAU - Onozawa, Masahiro
AU  - Onozawa M
AD  - Department of Internal Medicine, Asahikawa City Hospital 1-65, Kinseicho 1 chome, 
      Asahikawa, Hokkaido, Japan. masahiro.onozawa@nifty.ne.jp
FAU - Fukuhara, Takashi
AU  - Fukuhara T
FAU - Nigo, Motohiko
AU  - Nigo M
FAU - Takeda, Akinori
AU  - Takeda A
FAU - Takahata, Mutsumi
AU  - Takahata M
FAU - Yamamoto, Yasushi
AU  - Yamamoto Y
FAU - Miyake, Takayoshi
AU  - Miyake T
FAU - Kanda, Makoto
AU  - Kanda M
FAU - Maekawa, Isao
AU  - Maekawa I
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (AML1-ETO fusion protein, human)
RN  - 0 (Core Binding Factor Alpha 2 Subunit)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RUNX1 Translocation Partner 1 Protein)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adult
MH  - *Chromosomes, Human, Pair 21
MH  - *Chromosomes, Human, Pair 8
MH  - Core Binding Factor Alpha 2 Subunit
MH  - Humans
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Male
MH  - Oncogene Proteins, Fusion/*genetics
MH  - RUNX1 Translocation Partner 1 Protein
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sensitivity and Specificity
MH  - Transcription Factors/*genetics
MH  - *Translocation, Genetic
EDAT- 2003/11/19 05:00
MHDA- 2004/01/08 05:00
CRDT- 2003/11/19 05:00
PHST- 2003/11/19 05:00 [pubmed]
PHST- 2004/01/08 05:00 [medline]
PHST- 2003/11/19 05:00 [entrez]
AID - S0165460803001997 [pii]
AID - 10.1016/s0165-4608(03)00199-7 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2003 Dec;147(2):134-9. doi: 
      10.1016/s0165-4608(03)00199-7.