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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.
Conclusions : 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. (Korean J Lab Med 2010;30:1-8)
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참고문헌 (17)
참고문헌 신청
Al-Sweedan SA / 2007 / Characteristics of patients with TEL-AML1-positive acute lymphoblastic leukemia with single or multiple fusions / Pediatr Blood Cancer 48 : 510 ~ 514
Attarbaschi A / 2004 / Incidence and relevance of secondary chromosome abnormalities in childhood TEL/AML1+ acute lymphoblastic leukemia:an interphase FISH analysis / Leukem
Borowitz MJ / 1998 / Surface antigen phenotype can predict TEL-AML1 rearrangement in childhood B-precursor ALL: a Pediatric Oncology Group study / Leukemia 12 : 1764 ~ 1770
Jamil A / 2000 / TEL/AML-1 fusion gene. its frequency and prognostic significance in childhood acute lymphoblastic leukemia / Cancer Genet Cytogenet 122 : 73 ~ 78
Kobayashi H / 1997 / Detection of the der (21)t(12;21) chromosome forming the TEL-AML1 fusion gene in childhood acute lymphoblastic leukemia / Leuk Lymphoma 28 : 43 ~ 50
Attarbaschi A / 2004 / Incidence and relevance of secondary chromosome abnormalities in childhood TEL/AML1+ acute lymphoblastic leukemia:an interphase FISH analysis / Leukem
Borowitz MJ / 1998 / Surface antigen phenotype can predict TEL-AML1 rearrangement in childhood B-precursor ALL: a Pediatric Oncology Group study / Leukemia 12 : 1764 ~ 1770
Jamil A / 2000 / TEL/AML-1 fusion gene. its frequency and prognostic significance in childhood acute lymphoblastic leukemia / Cancer Genet Cytogenet 122 : 73 ~ 78
Kobayashi H / 1997 / Detection of the der (21)t(12;21) chromosome forming the TEL-AML1 fusion gene in childhood acute lymphoblastic leukemia / Leuk Lymphoma 28 : 43 ~ 50
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