Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia.
10.3343/alm.2016.36.5.475
- Author:
Jieun KIM
1
;
Chuhl Joo LYU
;
Saeam SHIN
;
Seung Tae LEE
;
Jong Rak CHOI
Author Information
1. Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea. LEE.ST@yuhs.ac ugine01@naver.com
- Publication Type:Original Article
- Keywords:
iAMP21;
RUNX1;
ERG;
FISH;
MLPA;
Acute lymphoblastic leukemia;
Korean;
Childhood
- MeSH:
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/genetics;
Proto-Oncogene Proteins c-ets/genetics;
Repressor Proteins/genetics;
Republic of Korea;
Translocation, Genetic;
Young Adult
- From:Annals of Laboratory Medicine
2016;36(5):475-480
- CountryRepublic of Korea
- Language:English
-
Abstract:
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.
