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KMID : 0981820100300010001
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Korean Journal of Laboratory Medicine
2010 Volume.30 No. 1 p.1 ~ p.8
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Prognostic Significance of TEL/AML1 Rearrangement and Its Additional Genetic Changes in Korean Childhood Precursor B-Acute Lymphoblastic Leukemia
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Chung Hee-Young
Seo Eul-Ju
Jang Seong-Soo
Chi Hyun-Sook
Park Chan-Jeoung
Jun Kyung-Ran
Im Ho-Joon
Seo Jong-Jin
Kim Kyung-Hee
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Abstract
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Background: TEL (ETV6)/AML1 (RUNX1) rearrangement is observed in approximately 20-25% of childhood precursor B-ALL and is associated with a favorable outcome. Additional genetic changes, associated with TEL/AML1, are frequently found. We evaluated the prevalence and prognostic significance of TEL/AML1 rearrangement and additional genetic changes in the TEL and AML1 genes in Korean childhood precursor B-ALL.
Methods: We performed FISH using LSITEL/AML1 ES probe (Vysis, USA) in 123 children diagnosed as having precursor B-ALL and assessed clinical relevance of the TEL/AML1 rearrangement and additional genetic abnormalities.
Results: The frequency of TEL/AML1 was 17.1% (21/123) in patients with precursor B-ALL. TEL/AML1-positive group showed male predominance (P=0.012) and younger age of onset than TEL/AML1-negative group by 1.6 yr (P=0.013). The outcome of TEL/AML1-positive group tended to show lower incidences of relapse (1/21 vs 20/102), death (1/21 vs 17/102) and longer event free survival. Among TEL/AML1-positive patients, unrearranged TEL deletion, AML1 gain, and unrearranged TEL deletion combined with AML1 gain were detected in 61.9%, 23.8%, and 9.5%, respectively. There were no significant differences in the clinical features and outcome according to the presence or absence of additional genetic changes.
In conclusion: The frequency of TEL/AML1 and additional genetic changes in TEL and AML1 is higher than previous studies in Korean children, and in close agreement with usually reported one, 20-25%. TEL/AML1-positive group showed a tendency toward better prognosis. Further study is needed to clarify the prognostic significance of additional changes in TEL and AML1 based on a large sample size.
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KEYWORD
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TEL/AML1 rearrangement, precursor B-ALL, FISH
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