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

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) anal...

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Bibliographic Details
Published in:Annals of laboratory medicine 2016, 36(5), , pp.475-480
Main Authors: Kim, Jieun, Lyu, Chuhl Joo, Shin, Saeam, Lee, Seung Tae, Choi, Jong Rak
Format: Article
Language:English
Subjects:
Adolescent
Asian People - genetics
B-Lymphocytes - metabolism
Child
Child, Preschool
Chromosomes, Human, Pair 21
Core Binding Factor Alpha 2 Subunit - genetics
DNA Probes - metabolism
ETS Translocation Variant 6 Protein
Female
Humans
Immunophenotyping
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Male
Multiplex Polymerase Chain Reaction
Original
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
병리학
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Summary: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. 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). 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. 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.
ISSN:2234-3806
2234-3814
DOI:10.3343/alm.2016.36.5.475