Abstract
Abstract 4408
Racial difference of spectra of chromosomal aberrations in various hematological malignancies was previously reported between Asian and western countries. Therefore, characterization of the cytogenetic profile is still a matter of interests for identifying cytogenetic risk factors in the current risk-adapted chemotherapy. The aim of this study was to investigate the spectrum of chromosomal aberrations in East Asian (Korean) acute leukemia patients, and to propose a panel of leukemic fusion genes suitable for the development of new molecular detection systems.
We prospectively analyzed bone marrow samples from 502 patients with acute leukemia referred for screening leukemic fusion genes by simultaneous analysis of conventional cytogenetics, FISH and multiplex RT-PCR system in Chonnam National University Hwasun Hospital (Hwasun, Korea) for last 5 years.
A total of 334 patients were diagnosed with AML, 155 with ALL and 13 with mixed phenotype acute leukemia. Twenty types in 28 fusion genes were detected in 42.4% of the total patients by multiplex RT-PCR system and in 33.9% by conventional cytogenetics including FISH. In the group of AML, the common fusion genes were 57 PML/RARa, 38 AML1/MGT8, 12 CBFb/MYH11, 11 MLL1, 5 BCR/ABL1, SET/CAN, PLZF/RARA and TLS/ERG in 2 cases each, and one of each AML1/MDS1, TEL/ABL and TEL/MN1. In the group of ALL, the following fusion genes were detected: 33 BCR/ABL1, 22 TEL/AML1, 10 MLL1, 7 E2A/PBX, 2 SET/CAN and SIL/TAL, one TEL/ABL. In addition, cytogenetically cryptic translocations were detected in 14.8% patients with normal karyotype or numerical aberrations by conventional cytogenetics. Among 288 patients with negative results by multiplex RT-PCR system, one child with early pre-B-ALL harbored MLL1/AF4, and 8 patients had 3 types of clinically significant chromosomal aberrations such as t(3;3)(q21;q26.2), t(8;14)(p24.1;q32) and i(17)(q10), which were all confirmed by conventional cytogenetics.
The current study demonstrated the spectrum and frequency of chromosomal aberrations in Korean patients with acute leukemia, which are different from Caucasian data. Also these results may offer important implications for the development of new multiplex molecular detection system.
No relevant conflicts of interest to declare.
Author notes
Asterisk with author names denotes non-ASH members.
