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KMID : 1100720160360050475
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Annals of Laboratory Medicine
2016 Volume.36 No. 5 p.475 ~ p.480
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Frequency and Clinical Characteristics of Intrachromosomal Amplification of Chromosome 21 in Korean Childhood B-lineage Acute Lymphoblastic Leukemia
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Kim Ji-Eun
Lyu Chuhl-Joo
Shin Sae-Am
Lee Seung-Tae
Choi Jong-Rak
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Abstract
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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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KEYWORD
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iAMP21, RUNX1, ERG, FISH, MLPA, Acute lymphoblastic leukemia, Korean, Childhood
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