[Clinical and laboratory study of a complex translocation t (6; 21; 8) (p22; q22; q22) in two patients with acute myeloid leukemia].
OBJECTIVE
To investigate the clinical and laboratory characteristics of a complex translocation t (6; 21; 8) (p22; q22; q22) in two patients with acute myeloid leukemia.


METHODS
Bone marrow (BM) samples were collected at presentation, prepared by short-term (24 hours) unstimulated culture and R-binding, for conventional cytogenetic assay (CCA). The complex translocation was assayed by fluorescence in situ hybridization (FISH) with a dual-color AML1/ETO-specific probe. AML1/ETO chimeric transcript was detected by reverse transcription polymerase chain reaction (RT-PCR).


RESULTS
In both cases CCA demonstrated a complex translocation, t (6; 8; 21) (p22; q22; q22), which was confirmed by interphase and metaphase FISH and AML1/ETO fusion transcript was detected by RT-PCR. Both the two patients were diagnosed as AML-M(2), but with different immunophenotype and therapeutic outcome.


CONCLUSIONS
The t (6; 21; 8) (p22; q22; q22) is a rare variant of complex translocation of t (8; 21) (q22; q22). More such cases are needed for elucidating its clinical features and prognosis.
Gong
Jin-ying
JY
Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.
Liu
Xu-ping
XP
Li
Cheng-wen
CW
Zhao
Xi-chen
XC
Dai
Yun
Y
Qin
Shuang
S
Xiao
Ji-gang
JG
Huang
Qi
Q
Xu
Fang-yun
FY
Wang
Fang
F
Cui
Wen
W
Liu
Shi-he
SH
Wang
Jian-xiang
JX
D000208:Acute Disease; D000293:Adolescent; D002871:Chromosome Banding; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D000075142:RUNX1 Translocation Partner 1 Protein; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
C107844:AML1-ETO fusion protein, human; D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; D000075142:RUNX1 Translocation Partner 1 Protein