[Study of genes involved in chronic myeloid leukemia with t (3; 21) (q26; q22) in blastic crisis].
OBJECTIVE
To explore genes involved in chronic myeloid leukemia (CML) with t (3; 21) (q26; q22) chromosome translocation in blastic crisis.


METHODS
A case of CML patient with t (3; 21) (q26; q22) in blastic crisis was reported. AML1 and bcr/abl genes were detected by FISH in interphase and metaphase cells. Genes involved in t (3; 21) (q26; q22) were analysed by RT-PCR and sequencing.


RESULTS
AML1 gene hybridization signal was detected in der (3) and der (21) chromosomes. AML1-Evi1, AML1-MDS1-Evi1, AML1-EAP fusion transcripts and Evi1 gene were detected in mRNA level, but no AML1-Evi1 fusion transcript. The mRNA expression level of AML1-MDS1-Evi1 fusion gene was 1.58 and 1.54 times higher than that of AML1-MDS1 and AML1-EAP, respectively. The mRNA expression level of Evi1 gene of the patient was 2.71 times higher than that of HEL cell line.


CONCLUSIONS
t (3; 21) (q26; q22) resulted in the AML1-MDS1-Evi1, AML1-MDS1, AML1-EAP fusion transcripts, and Evi1 gene was also activated by the translocation. These secondary aberrations should be the molecular basis of CML patient with t (3; 21) (q26; q22) in blastic crisis.
Liu
Xu-ping
XP
State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
Zhang
Mei-rong
MR
Dai
Yun
Y
Zhang
Li
L
Li
Rui
R
Hao
Yu-shu
YS
Xiao
Zhi-jian
ZJ
D000328:Adult; D001752:Blast Crisis / Q000235:genetics* / Q000473:pathology; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D000074008:MDS1 and EVI1 Complex Locus Protein; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D011519:Proto-Oncogenes / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; C493728:RUNX1 protein, human; D014157:Transcription Factors; D016044:Fusion Proteins, bcr-abl