期刊文献+

骨髓增生异常综合征的细胞遗传学分析及其预后意义 被引量:5

Cytogenetic Analysis and Its Prognosis in Patients with Myelodysplastic Syndrome
暂未订购
导出
摘要 目的:探讨骨髓增生异常综合征(MDS)的细胞遗传学异常及其演变与MDS的亚型和转归的关系。方法:采用骨髓细胞直接法和(或)短期培养法按常规制备染色体,采用R显带技术进行核型分析。结果:8例MDS检出染色体异常核型,占40%,主要异常有5q-,+8,-7,t/del(3)(q21),-18;MDS-RAEB和RAEBT(63.7%)比MDS-RA(11.1%)异常核型检出率高(P<0.05),且多为复杂异常;核型异常者进展为白血病的危险性明显高于核型正常者。结论:MDS的核型分析对其明确诊断,分型和预后评价有重要的参考价值。 Objective: To explore the relationship of cytogenetic abnormalities and its evolution with the subtypes of myelodysplastic syndrome (MDS) and the prognosis of MDS patients. Methods: Metaphase chromosomes were prepared using direct method and (or) short-term culture method. Karyotyping was performed using R-banding technique. Results: Abnormal chromosomes were detected in 8 (40%) cases, including del(5q), tirsomy 8, t/del(3)(q21), and monosomy 18. The incidence of cytogenetic abnormalities was higher in patients with high risk group (RAEB and RAEBt) than in that of low risk group (RA) (63.7% vs 11.1%, P<0.05). Complex karyotype abnormalities were predominantly observed in high risk group. The risk of leukemic transformation was higher in cases with abnormal karyotypes than with normal karyotypes. Conclusion: Karyotype analysis was very useful for the diagnosis, classification, and prognosis evaluation in MDS.
出处 《江苏大学学报(医学版)》 CAS 2005年第2期149-151,共3页 Journal of Jiangsu University:Medicine Edition
关键词 骨髓增生异常综合征(MDS) 细胞遗传学核型分析 转化 Myelodysplastic syndrome Cytogenetics Karyotyping Transformation
  • 相关文献

参考文献9

  • 1薛永权 过宇.介绍一种改良的骨髓细胞染色体热变性姬姆萨R显带法[J].中华医学检验杂志,1986,9:247-247.
  • 2杨崇礼 张之南 主编.骨髓增生异常综合征[A].张之南,主编.血液病诊断和疗效标准:第2版[C].北京: 科学出版社,1998.258~267.
  • 3鲍达.骨髓增生异常综合征细胞遗传学研究进展[J].国外医学(遗传学分册),2001,24(2):78-80. 被引量:2
  • 4Mitelman F. An international system for human cytogenetic nomenclature ISCN ( 1995 ) [ M ]. Basel: Karger, 1995.
  • 5樊剑飞,陈赛娟.骨髓增生异常综合征的染色体上共同缺失区及其候选基因的研究进展[J].国外医学(输血及血液学分册),2004,27(6):527-531. 被引量:5
  • 6Fernandez TS, Ornellas MH, Carvalho LO, et al. Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid Leukemia[ J]. Res,2000,24:839 - 848.
  • 7Greeberg P. The Smoldering myeloid leukemic states:Clinical and biologic feature [J]. Blood, 1983,61 (6):1035.
  • 8Morel P, Hebbar M, Lai JL, et al. Cytogenetic analysis has strong independent prognostic value in de novo myeloduysplastic syndromes and can be incorporated in a new scoring systems: a report on 408 cases [ J ]. Leukemia, 1993,7:1315 - 1323.
  • 9Lee JJ, Kim HJ, Chung U, et al. Comparisons of prognostic scoring systems for myelodysplastic syndromes: a Korean multicenter study [ J ]. Leuk Res, 1999,23:425 -432.

二级参考文献26

  • 1Bench AJ, Nacheva EP, Hood TL, et al. Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. UK Cancer Cytogenetics Group (UKCCG).Oncogene, 2000, 19: 3
  • 2YamamotoK, Nagata K, Yagasaki F, et al. Interstitial deletion of the short arm of chromosome 12 during clonal evolution in myelodysplastic syndrome with t ( 5; 12 ) (q 13; p 13 ) involving the ETV6 gene. Cancer Genet Cytogenet, 2000, 119: 113-117.
  • 3Tanaka K, Arif M, Eguchi M, et al. Frequent allelic loss of the RB, D13S319 and D13S25 locus in myeloid malignancies with deletion/translocation at 13q14 of chromosome 13, but not in lymphoid malignancies. Leukemia, 1999, 13: 1367-1373.
  • 4Lai JL, Preudhomme C, Zandecki M, et al. Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoiesis and a high incidence of P53 mutations. Leukemia, 1995, 9: 370-381.
  • 5Fairman J, Wang RY, Liang H, et al. Translocations and deletions of 5q13. 1 in myelodysplasia and acute myelogenous leukemia: evidence for a novel critical locus. Blood, 1996, 88:2259-2266.
  • 6Dohner K, Brown J, Hehmann U, et al. Molecular cytogenetic characterization of a critical region in bands 7q35-q36 commonly deleted in malignant myeloid disorders. Blood, 1998, 92: 4031-4035.
  • 7Hofmann WK, Takeuchi S, Xie D, et al. Frequent loss of heterozygosity in the region of D1S450 at 1p36. 2 in myelodysplastic syndromes. Leuk Res, 2001, 25:855-858.
  • 8Stirewalt DL, Clurman B, Appelbaum FR, et al. p73 mutations and expression in adult de novo acute myelogenous leukemia.Leukemia, 1999, 13: 985-990.
  • 9Sato Y, Izumi T, Kanamori H, et al. t(1;3)(p36;p21) is a recurring therapy-related translocation. Genes Chromosomes Cancer, 2002, 34: 186-192.
  • 10Ma SK, Wan TS, Au WY, et al. Chromosome 11q deletion in myeloid malignancies. Leukemia, 2002, 16: 953-955.

共引文献39

同被引文献56

引证文献5

二级引证文献14

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部