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소아 급성백혈병에서 MLL 유전자의 부분일렬반복의 유병률과 임상적 의의

Other Titles
 Prevalence and Clinical Implication of Partial Tandem Duplication of the Mixed Lineage Leukemia Gene in Pediatric Acute Leukemia 
 진송이  ;  한승민  ;  김효선  ;  유철주  ;  한정우 
 Clinical Pediatric Hematology-Oncology, Vol.21(2) : 71-79, 2014 
Journal Title
 Clinical Pediatric Hematology-Oncology 
Issue Date
Acute leukemia ; Cytogenetics ; Partial tandem duplication ; MLL ; Prognostic factors ; Pediatric leukemia
Background: The mixed lineage leukemia (MLL) gene may induce hematopoiesis and leukemia. Partial tandem duplication of MLL (MLL-PTD) is associated with poor prog-nosis in acute myeloid leukemia (AML); however, the significance of MLL-PTD in acute lymphoblastic leukemia (ALL) has not been thoroughly studied. We evaluated the in-cidence, relationship with other cytogenetic abnormalities, and the prognostic role of MLL-PTD in ALL.Methods: We reviewed medical records from pediatric patients diagnosed with ALL in Severance Hospital, Yonsei University Health System, South Korea from 2002 to 2008. MLL-PTD was detected by nested reverse transcriptase polymerase chain reaction.Results: In ALL patients, 50.0% (42/84) were positive for MLL-PTD. There was no sig-nificant difference in the 10-year overall survival (10Y OS) and event-free survival (EFS) between MLL-PTD-positive (+) and MLL-PTD-negative (–) groups (69.4% vs. 76.2%, P=0.609, and 62.6% vs. 66.7%, P=0.818, respectively). The combination of high level of lactate dehydrogenase (>1,100 IU/L) and MLL-PTD(+) [MLL-PTD(+)/High LDH] was a statistically significant negative prognostic factor for 10Y OS and EFS (P=0.0226 and P=0.0230, respectively). In multivariate analysis, National Cancer Institute risk strat-ification and very high risk features were independent significant prognostic factors but MLL-PTD (+)/High LDH was not.Conclusion: MLL-PTD was observed frequently in pediatric ALL patients. MLL-PTD was not an independent prognostic factor. MLL-PTD (+)/High LDH should be evaluated fur-ther for its prognostic potential in ALL.
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1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Hyo Sun(김효선)
Lyu, Chuhl Joo(유철주) ORCID logo https://orcid.org/0000-0001-7124-7818
Hahn, Seung Min(한승민) ORCID logo https://orcid.org/0000-0001-9832-6380
Han, Jung Woo(한정우) ORCID logo https://orcid.org/0000-0001-8936-1205
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