Korean J Hematol 2003; 38(1):
Published online March 31, 2003
© The Korean Society of Hematology
백혈병환자에서의 세포유전학 검사; 515례에 대한 분석
하정숙, 남희, 전동석, 김재룡, 김영재
계명대학교 의과대학 진단검사의학교실,
성균관의대 마산삼성병원 진단검사의학과
The Cytogenetic Analysis of Leukemia Patients; A Study of 515 Cases
BACKGROUND : Cytogenetic study is important in prediction of prognosis and evaluation of treatment effect in leukemia. The cytogenetic aberrations of leukemia are nonrandom, but uneven geographic distribution of specific abnormalities have been reported in a few studies. So we analyzed cytogenetic study to find these uneven distribution patterns.
METHODS : The conventional cytogenetic study was performed for 515 cases with acute and chronic leukemia on initial diagnosis. The results were analysed in each subtypes classified according to FAB criteria.
RESULTS : The aberration rate was 62.0% in acute myelogenous leukemia (AML), 72.0% in acute lymphoblastic leukemia (ALL), 92.8% in chronic myelogenous leukemia (CML), 37.5% in chronic lymphocytic leukemia (CLL), 56.9% in myelodysplastic syndrome (MDS) and 36.4% in acute undetermined leukemia. The frequent anomalies were t(8;21)(q22;q22), t(15;17)(q22;q11), -Y, ＋8, ＋21 in AML, t(9;22)(q34;q11), del(6q), ＋8, t(1;19)(q23;p13), ＋21, -20 in ALL,
-7/del(7q), ＋8, del(12p), ＋11 in MDS. Philadelphia chromosome was found in 94.8% of CML and ＋22q-, ＋8 was frequent secondary changes. The incidence of t(8;21)(q22;q22) in M2, t(15;17)(q22;q11) in M3, t(9;22)(q34;q11) in ALL and -5/del5q, -7/del7q in MDS were 54.9%, 95.2%, 23.6%, 4.0% and 40.0%, respectively.
CONCLUSION: There were no marked differences in distribution pattern of common aberrations compared to previous reports. But the frequency of some anomalies showed specific findings. The incidence of t(8;21) in M2 subtype and t(9;22)(q34;q11) in ALL were higher in oriental countries including our results than in western countries. The incidence of -5/del(5q) in MDS was lower in oriental countries. These findings suggest the geographic
heterogeneity which may give some help to investigate the genetic and environmental influence on the karyology of tumors.
Keywords Leukemia; Cytogenetic study; Geographic heterogeneity; t(8;21); t(9;22)(q34;q11); -5; del(5q);
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Korean J Hematol 2003; 38(1): 8-14
Published online March 31, 2003
Copyright © The Korean Society of Hematology.
백혈병환자에서의 세포유전학 검사; 515례에 대한 분석
하정숙, 남희, 전동석, 김재룡, 김영재
계명대학교 의과대학 진단검사의학교실,
성균관의대 마산삼성병원 진단검사의학과
The Cytogenetic Analysis of Leukemia Patients; A Study of 515 Cases
Jung Sook Ha, Nam Hee Ryoo, Dong Seok Jeon, Jae Ryong Kim, Young Jae Kim
Department of Laboratory Medicine, University of Keimyung College of Medicine, Daegu
Sungkyunkwan University School of Medicine, Masan Samsung Hospital, Masan, Korea
Abstract
BACKGROUND : Cytogenetic study is important in prediction of prognosis and evaluation of treatment effect in leukemia. The cytogenetic aberrations of leukemia are nonrandom, but uneven geographic distribution of specific abnormalities have been reported in a few studies. So we analyzed cytogenetic study to find these uneven distribution patterns.
METHODS : The conventional cytogenetic study was performed for 515 cases with acute and chronic leukemia on initial diagnosis. The results were analysed in each subtypes classified according to FAB criteria.
RESULTS : The aberration rate was 62.0% in acute myelogenous leukemia (AML), 72.0% in acute lymphoblastic leukemia (ALL), 92.8% in chronic myelogenous leukemia (CML), 37.5% in chronic lymphocytic leukemia (CLL), 56.9% in myelodysplastic syndrome (MDS) and 36.4% in acute undetermined leukemia. The frequent anomalies were t(8;21)(q22;q22), t(15;17)(q22;q11), -Y, ＋8, ＋21 in AML, t(9;22)(q34;q11), del(6q), ＋8, t(1;19)(q23;p13), ＋21, -20 in ALL,
-7/del(7q), ＋8, del(12p), ＋11 in MDS. Philadelphia chromosome was found in 94.8% of CML and ＋22q-, ＋8 was frequent secondary changes. The incidence of t(8;21)(q22;q22) in M2, t(15;17)(q22;q11) in M3, t(9;22)(q34;q11) in ALL and -5/del5q, -7/del7q in MDS were 54.9%, 95.2%, 23.6%, 4.0% and 40.0%, respectively.
CONCLUSION: There were no marked differences in distribution pattern of common aberrations compared to previous reports. But the frequency of some anomalies showed specific findings. The incidence of t(8;21) in M2 subtype and t(9;22)(q34;q11) in ALL were higher in oriental countries including our results than in western countries. The incidence of -5/del(5q) in MDS was lower in oriental countries. These findings suggest the geographic
heterogeneity which may give some help to investigate the genetic and environmental influence on the karyology of tumors.
Keywords: Leukemia, Cytogenetic study, Geographic heterogeneity, t(8,21), t(9,22)(q34,q11), -5, del(5q),
