Blood Res 2017; 52(2):
Published online June 22, 2017
https://doi.org/10.5045/br.2017.52.2.100
© The Korean Society of Hematology
1Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
2Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Correspondence to : Sun-Hee Kim, M.D., Ph.D. Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea. sunnyhk@skku.edu
Intrachromosomal amplification of chromosome 21 (iAMP21), defined as the presence of three or more RUNX1 signals on one marker chromosome, is a distinct cytogenetic subgroup of childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) that is known to have a poor prognosis when treated with standard therapy. The aim of this study was to evaluate the clinical characteristics of Korean children with iAMP21.
The cytogenetic data from BCP-ALL children were reviewed. The ETV6/RUNX1 ES Dual Color Probe was used for fluorescence in situ hybridization (FISH).
In total, 295 children were included. Of these, 10 patients (3.4%) had iAMP21. The median age of iAMP21 patients was 9 years, and the median value of white blood cell count was 5.09×109/L. Slow early treatment response was observed more in iAMP21 patients. Patients with iAMP21 had a higher incidence of relapse and worse survival rates. In patients with iAMP21, the estimated 10-year cumulative incidence of relapse was 53.3%. The estimated 10-year event-free survival and overall survival rate were 46.7% and 64.8%, respectively. Most cases of leukemic relapse developed in the late period (median, 43 mo). In multivariate analysis, high risk group was the only factor that had a significant impact on death.
The existence of iAMP21 was related to delayed treatment response and was likely to affect increased relapse and death in the late period. Further studies are needed to reveal its effect on BCP-ALL treatment outcomes and its role as an independent prognostic factor.
Keywords iAMP21, Childhood BCP-ALL, FISH
Blood Res 2017; 52(2): 100-105
Published online June 22, 2017 https://doi.org/10.5045/br.2017.52.2.100
Copyright © The Korean Society of Hematology.
Mina Yang1,#, Eun Sang Yi2,#, Hee Jin Kim1, Keon Hee Yoo2, Hong Hoe Koo2, and Sun-Hee Kim1
1Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
2Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Correspondence to:Sun-Hee Kim, M.D., Ph.D. Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea. sunnyhk@skku.edu
Intrachromosomal amplification of chromosome 21 (iAMP21), defined as the presence of three or more RUNX1 signals on one marker chromosome, is a distinct cytogenetic subgroup of childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) that is known to have a poor prognosis when treated with standard therapy. The aim of this study was to evaluate the clinical characteristics of Korean children with iAMP21.
The cytogenetic data from BCP-ALL children were reviewed. The ETV6/RUNX1 ES Dual Color Probe was used for fluorescence in situ hybridization (FISH).
In total, 295 children were included. Of these, 10 patients (3.4%) had iAMP21. The median age of iAMP21 patients was 9 years, and the median value of white blood cell count was 5.09×109/L. Slow early treatment response was observed more in iAMP21 patients. Patients with iAMP21 had a higher incidence of relapse and worse survival rates. In patients with iAMP21, the estimated 10-year cumulative incidence of relapse was 53.3%. The estimated 10-year event-free survival and overall survival rate were 46.7% and 64.8%, respectively. Most cases of leukemic relapse developed in the late period (median, 43 mo). In multivariate analysis, high risk group was the only factor that had a significant impact on death.
The existence of iAMP21 was related to delayed treatment response and was likely to affect increased relapse and death in the late period. Further studies are needed to reveal its effect on BCP-ALL treatment outcomes and its role as an independent prognostic factor.
Keywords: iAMP21, Childhood BCP-ALL, FISH
LSI ETV6/RUNX1 ES Dual Color Probe revealed increased signals of
The cumulative incidence of relapse by iAMP21. There was a trend toward a higher cumulative incidence of relapse in the iAMP21 group without statistical significance (
Table 1 . Characteristics of study patients..
Values are presented as median (range) or no. of patients (%)..
Abbreviations: BM, bone marrow; D7, seventh day of induction therapy; HR, high risk; NA, Not available; RER, rapid early response; SER, slow early response; SR, standard risk; VHR, very high risk..
Table 2 . Clinical characteristics and cytogenetics of patients with iAMP21..
Abbreviations: CNS, central nervous system; D7, seventh day of induction treatment; D14, fourteenth day of induction treatment; EOI, end of induction; HR, high risk; NA, not available; SR, standard risk; WBC, indicates white blood cell..
Table 3 . Multivariate Analysis of Outcomes..
Abbreviations: HR, high risk; RER, rapid early responder; SER, slow early responder; SR, standard risk; VHR, very high risk..
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LSI ETV6/RUNX1 ES Dual Color Probe revealed increased signals of
The cumulative incidence of relapse by iAMP21. There was a trend toward a higher cumulative incidence of relapse in the iAMP21 group without statistical significance (