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Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia

 Jieun Kim  ;  Chuhl Joo Lyu  ;  Saeam Shin  ;  Seung-Tae Lee  ;  Jong Rak Choi 
 Annals of Laboratory Medicine, Vol.36(5) : 475-480, 2016 
Journal Title
 Annals of Laboratory Medicine 
Issue Date
Adolescent ; Asian Continental Ancestry Group/genetics* ; B-Lymphocytes/metabolism* ; Child ; Child, Preschool ; Chromosomes, Human, Pair 21* ; Core Binding Factor Alpha 2 Subunit/genetics ; DNA Probes/metabolism ; Female ; Humans ; Immunophenotyping ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Male ; Multiplex Polymerase Chain Reaction ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/diagnosis* ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Proto-Oncogene Proteins c-ets/genetics ; Repressor Proteins/genetics ; Republic of Korea ; Translocation, Genetic ; Young Adult
Acute lymphoblastic leukemia ; Childhood ; ERG ; FISH ; Korean ; MLPA ; RUNX1 ; iAMP21
BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) is known to be associated with poor prognosis in B-cell ALL (B-ALL). To determine the frequency and clinical characteristics of iAMP21 in Korean B-ALL patients, we performed FISH and multiplex ligation-dependent probe amplification (MLPA) analyses. METHODS: A total of 102 childhood B-ALL patients were screened with ETV6-RUNX1 FISH probes (Abbott Molecular, USA). The presence of an iAMP21 was confirmed by using MLPA P327 iAMP21-ERG probemix (MRC Holland, The Netherlands). RESULTS: iAMP21 was detected in one of the screened B-ALL patients (1/102 patients, 1.0%) who presented the ALL immunophenotype and complex karyotype at initial diagnosis. The patient relapsed twice after bone marrow transplantation. MLPA showed 12.5-Mb and 4.28-Mb regions of amplification and deletion, respectively. CONCLUSIONS: The frequency of iAMP21 is considerable in Korean pediatric patients. Our report suggests that iAMP21 in childhood B-ALL has very unfavorable impact on patient's prognosis. Additional methods such as MLPA analysis is essential to rule out patients with equivocal interphase FISH results.
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1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
김지은(Kim, Jieun)
유철주(Lyu, Chuhl Joo) ORCID logo https://orcid.org/0000-0001-7124-7818
이승태(Lee, Seung-Tae) ORCID logo https://orcid.org/0000-0003-1047-1415
최종락(Choi, Jong Rak) ORCID logo https://orcid.org/0000-0002-0608-2989
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