Clinical and laboratory study of a complex translocation t (6; 21; 8) (p22; q22; q22) in two patients with acute myeloid leukemia.
- Author:
Jin-ying GONG
1
;
Xu-ping LIU
;
Cheng-wen LI
;
Xi-chen ZHAO
;
Yun DAI
;
Shuang QIN
;
Ji-gang XIAO
;
Qi HUANG
;
Fang-yun XU
;
Fang WANG
;
Wen CUI
;
Shi-he LIU
;
Jian-xiang WANG
Author Information
- Publication Type:Case Reports
- MeSH: Acute Disease; Adolescent; Chromosome Banding; Chromosomes, Human, Pair 21; genetics; Chromosomes, Human, Pair 6; genetics; Chromosomes, Human, Pair 8; genetics; Core Binding Factor Alpha 2 Subunit; genetics; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Leukemia, Myeloid; genetics; pathology; Male; Middle Aged; Oncogene Proteins, Fusion; genetics; RUNX1 Translocation Partner 1 Protein; Reverse Transcriptase Polymerase Chain Reaction; Translocation, Genetic
- From: Chinese Journal of Hematology 2006;27(5):314-317
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the clinical and laboratory characteristics of a complex translocation t (6; 21; 8) (p22; q22; q22) in two patients with acute myeloid leukemia.
METHODSBone 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).
RESULTSIn 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.
CONCLUSIONThe 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.