Original Article

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Blood Res 2020; 55(4):

Published online December 31, 2020

https://doi.org/10.5045/br.2020.2020255

© The Korean Society of Hematology

Changing the frequency and spectra of chromosomal aberrations in Korean patients with acute leukemia in a tertiary care hospital

Je-Hyun Park1,2,#, Min-Gu Kang3,#, Hye-Ran Kim4,#, Young-Eun Lee2, Jun Hyung Lee1, Hyun-Jung Choi1, Jong-Hee Shin1, Myung-Geun Shin1,2

1Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, 2Brain Korea 21 Plus program, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, 3Department of Laboratory Medicine, GwangYang Sarang General Hospital, Gwangyang, 4College of Korean Medicine, Dongshin University, Naju, Korea

Correspondence to : Myung-Geun Shin, M.D., Ph.D.
Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, 322 Seoyang-ro, Hwasun 58128, Korea
E-mail: mgshin@chonnam.ac.kr

#These authors contributed equally to this study.

Received: October 7, 2020; Revised: January 1, 2020; Accepted: October 30, 2020

Abstract

Background
Chromosomal analysis is essential for the diagnosis and risk stratification of all leukemia patients. Not surprisingly, racial differences in chromosomal aberrations (CA) in hematological malignancies could be found, and CA incidence in leukemia might change over time, possibly due to environmental and lifestyle changes. Thus, we compared the frequency and range of CA in patients with acute leukemia (AL) during two time periods (2006‒2009 vs. 2010‒2015) and compared them with other prior studies.
Methods
We enrolled 717 patients with AL during a six-year period (2010‒2015). We compared the results to those of our earlier study (2006‒2009) [1]. Conventional cytogenetics, a multiplex reverse transcriptase (RT)-PCR system, and fluorescence in situ hybridization were employed to assess bone marrow specimens or peripheral blood at the diagnostic stage in AL patients to detect CA.
Results
The incidence of CA changed in the leukemia subgroups during the two time periods. Notably, the most frequent CA of childhood acute myeloid leukemia (AML) was PML/RARA, and was followed by RUNX1/RUNX1T1 in the current study. In contrast, the most common CA was RUNX1/RUNX1T1 in a previous study [1] and was followed by PML/RARA. In this study, the most frequent CA of the mixed phenotype AL was BCR/ABL1, which was followed by KMT2A/MLLT3. In a previous report, [1] the most frequent CA was BCR/ABL1, which was followed by KMT2A/ELL.
Conclusion
The distribution of CA in Korean AL patients changed over time in a single institute. This change might be due to environmental and lifestyle changes.

Keywords Acute leukemia, Chromosomal aberrations, Frequency, Spectra

Article

Original Article

Blood Res 2020; 55(4): 225-245

Published online December 31, 2020 https://doi.org/10.5045/br.2020.2020255

Copyright © The Korean Society of Hematology.

Changing the frequency and spectra of chromosomal aberrations in Korean patients with acute leukemia in a tertiary care hospital

Je-Hyun Park1,2,#, Min-Gu Kang3,#, Hye-Ran Kim4,#, Young-Eun Lee2, Jun Hyung Lee1, Hyun-Jung Choi1, Jong-Hee Shin1, Myung-Geun Shin1,2

1Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, 2Brain Korea 21 Plus program, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, Hwasun, 3Department of Laboratory Medicine, GwangYang Sarang General Hospital, Gwangyang, 4College of Korean Medicine, Dongshin University, Naju, Korea

Correspondence to:Myung-Geun Shin, M.D., Ph.D.
Department of Laboratory Medicine, Chonnam National University Medical School and Chonnam National University Hwasun Hospital, 322 Seoyang-ro, Hwasun 58128, Korea
E-mail: mgshin@chonnam.ac.kr

#These authors contributed equally to this study.

Received: October 7, 2020; Revised: January 1, 2020; Accepted: October 30, 2020

Abstract

Background
Chromosomal analysis is essential for the diagnosis and risk stratification of all leukemia patients. Not surprisingly, racial differences in chromosomal aberrations (CA) in hematological malignancies could be found, and CA incidence in leukemia might change over time, possibly due to environmental and lifestyle changes. Thus, we compared the frequency and range of CA in patients with acute leukemia (AL) during two time periods (2006‒2009 vs. 2010‒2015) and compared them with other prior studies.
Methods
We enrolled 717 patients with AL during a six-year period (2010‒2015). We compared the results to those of our earlier study (2006‒2009) [1]. Conventional cytogenetics, a multiplex reverse transcriptase (RT)-PCR system, and fluorescence in situ hybridization were employed to assess bone marrow specimens or peripheral blood at the diagnostic stage in AL patients to detect CA.
Results
The incidence of CA changed in the leukemia subgroups during the two time periods. Notably, the most frequent CA of childhood acute myeloid leukemia (AML) was PML/RARA, and was followed by RUNX1/RUNX1T1 in the current study. In contrast, the most common CA was RUNX1/RUNX1T1 in a previous study [1] and was followed by PML/RARA. In this study, the most frequent CA of the mixed phenotype AL was BCR/ABL1, which was followed by KMT2A/MLLT3. In a previous report, [1] the most frequent CA was BCR/ABL1, which was followed by KMT2A/ELL.
Conclusion
The distribution of CA in Korean AL patients changed over time in a single institute. This change might be due to environmental and lifestyle changes.

Keywords: Acute leukemia, Chromosomal aberrations, Frequency, Spectra

Fig 1.

Figure 1.The prevalence of major chromosomal aberrations, which were detected using conventional cytogenetics, including FISH and multiplex RT-PCR, were compared to the previous study [1] and described according to leukemia type and age. (A) Childhood AML, (B) adult AML.
Blood Research 2020; 55: 225-245https://doi.org/10.5045/br.2020.2020255

Fig 2.

Figure 2.The prevalence of major chromosomal aberrations, which were detected using conventional cytogenetics, including FISH and multiplex RT-PCR, was compared to that of the previous study [1] and described according to leukemia type and age. (A) Childhood ALL, (B) adult ALL.
Blood Research 2020; 55: 225-245https://doi.org/10.5045/br.2020.2020255

Table 1 . Frequency and spectra of chromosomal aberrations according to the type of all acute leukemia patients using the multiplex RT-PCR system..

Chromosomal aberration using multiplex RT-PCR systemFusion transcriptAMLALLMPALTotal
t(15;17)(q24;q21)PML/RARA6767
t(9;22)(q34;q11)BCR/ABL1934447
t(8;21)(q22;q22)RUNX1/RUNX1T13434
11q23
t(4;11)(q21;q23)KMT2A /AFF133
t(6;11)(q27;q23)KMT2A /AFDN55
t(11;19)(q23;p13.3)KMT2A /ELL22
t(9;11)(p22;q23)KMT2A /MLLT3819
t(10;11)(p12;q23)KMT2A /MLLT10516
t(11;19)(q23;p13.3)KMT2A /MLLT111
t(12;21)(p13;q22)ETV6/RUNX11515
t(1;19)(q23;p13)TCF3/PBX155
inv(16)(p13;q22)CBFB/MYH112323
t(9;9)(q34;q34)SET/NUP214112
del(1p32)STIL/TAL144
t(16;21)(p11;q22)FUS/ERG33
t(6;9)(p23;q34)DEK/NUP21422

N of positive cases159645228

Total cases5211879717
NT6119080
Cases excluding ‘NT’4601689637
Positive cases excluding ‘NT’ (%)35385636

Abbreviations: ALL, acute lymphoid leukemia; AML, acute myeloid leukemia; MPAL, mixed-phenotype acute leukemia; NT, not tested..


Table 2 . Frequency and spectra of chromosomal aberrations according to the type of acute leukemia and detection method in all patients using conventional cytogenetics, including FISH..

Chromosomal aberration by conventional cytogeneticsFusion transcriptAMLALLMPALTotal



KFKFKF
t(15;17)(q24;q21)PML/RARA541367
t(9;22)(q34;q11)BCR/ABL134228441
t(8;21)(q22;q22)RUNX1/RUNX1T13636
11q23
t(4;11)(q21;q23)KMT2A /AFF111
t(6;11)(q27;q23)KMT2A /AFDN55
t(11;19)(q23;p13.3)KMT2A /ELL0
t(9;11)(p22;q23)KMT2A /MLLT3617
t(10;11)(p12;q23)KMT2A /MLLT10415
t(11;19)(q23;p13.3)KMT2A /MLLT111
t(12;21)(p13;q22)ETV6/RUNX15712
t(1;19)(q23;p13)TCF3/PBX111
inv(16)(p13;q22)CBFB/MYH1121122
t(9;9)(q34;q34)SET/NUP2140
del(1p32)STIL/TAL10
t(16;21)(p11;q22)FUS/ERG22
t(6;9)(p23;q34)DEK/NUP21422
Extra-aberrationa)11354372170

Positive cases excluding extra-aberration151465202
Positive cases269967372

Total cases5211879717
Cases of ‘NT’1512027
Cases excluding ‘NT’5061759690
Positive cases excluding ‘extra-aberration’ & ‘NT’ (%)30265629
Positive cases excluding ‘NT’ (%)53557854

a)Extra-aberrations are the numerical abnormalities or structural rearrangements, excluding 28 fusion transcripts of the multiplex RT-PCR system..

Abbreviations: F, fluorescence in situ hybridization; K, karyotype; NT, not tested..


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