期刊文献+

荧光原位杂交技术检测骨髓增生异常综合征患者5、7、8号染色体异常及临床意义 被引量:4

Detection of cytogenetic abnormalities involving chromosomes 5,7 and 8 in myelodysplastic syndromes with fluorescence in situ hybridization and its clinical significance
原文传递
导出
摘要 目的用荧光原位杂交(FISH)技术分析骨髓增生异常综合征(MDS)患者的染色体改变及预后。方法用常规细胞遗传学分析和FISH法分析37例MDS患者8、5、7号染色体的异常变化。用SPSS11.5统计软件,对患者的遗传学异常与疾病转归、预后之间关系进行相关性检验。结果检出染色体异常21例(56.8%),其中复杂异常6例(16.2%),8号染色体异常9例(24.3%),-5/5q-异常2例(5.4%),-7/7q-异常2例(5.4%)。平均随访12个月,1例失访,22例存活,14例死亡,12例转变为急性白血病。复杂核型与MDS的急性白血病转化及死亡密切相关;8号染色体三体和-7/7q-与死亡相关。结论FISH能敏感地检测出小克隆的异常,应用多种探针并结合染色体检测能较准确判断MDS患者的预后,异常核型比例高提示预后差。 Objective To identify the abnormal karyotypes by fluorescence in situ hybridization (FISH) and explore prognostic implications in patients with myelodysplastic syndromes (MDS). Methods FISH was used to detect the frequently occurring chromosome abnormalities ( - 5/5q, + 8, - 7/7q - ) in 37 MDS eases. SPSS 11.5 software and correlation analysis were used to analyze the relativity among the abnormal chromosomes, the prognosis and the disease conversion in 37 MDS patients. Results Karyotype abnormalities were found in 21 (56.8%) of 37 cases, among which 6 ( 16.2% ) were complex karyotypes, 9 (24.3%) +8, 2(5.4% ) -5/5q -, 2(5.4% ) -7/7q -. In the median time of follow-up of 12 months, 12 eases transformed into acute leukemia. Complex karyotypes were significantly associated with the poor prognosis and leukemia transformation. + 8 and - 7/7q - abnormalities were correlated with the death. Condusions FISH was more sensitive than conventional cytogenetics for detecting mini-clonal abnormality. There are some differences in abnormal karyotypes between patients in China and the western countries. Multiprobes used in cytogenetic detections may predict the patient' s prognosis more accurately. The higher proportion of abnormal karyotypes the poorer prognosis.
出处 《中华血液学杂志》 CAS CSCD 北大核心 2007年第1期6-10,共5页 Chinese Journal of Hematology
关键词 骨髓增生异常综合征 原位杂交 荧光 预后 Myelodysplastic syndrome In situ hybridization, fluorescence Prognosis
  • 相关文献

参考文献7

二级参考文献22

  • 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[1]Sole F, Espinet B, Sanz GF, et al. Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes[J]. Br J Haematol, 2000,108(2):346-356.
  • 3[2]de Souza Fernandez T, Ornellas MH, Otero de Carvalho L, et al. Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia[J]. Lcuk Res, 2000, 24(10): 839-848.
  • 4[3]Olney H J, Le Beau MM. The cytogenetics of myelodysplastic syndromes [J]. Best Pract Res Clin Haematol,2001, 14(3): 479-495
  • 5[5]Bernasconi P, Cavigliano PM, Boni M,et al. Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients[J]. Leukemia, 2003, 17(11): 2107-2112.
  • 6[6]Barouk-Simonet E, Soenen-Cornu V, Roumier C, et al.Role of multiplex FISH in identifying chromosome involvement in myelodysplastic syndromes and acute myeloid leukemias with complex karyotypes: a report on 28 cases [J]. Cancer Genet Cytogenet, 2005, 157(2): 118-126.
  • 7[7]Babicz M, Kowalczyk JR, Winnicka D, et al. The effectiveness of high-resolution-comparative genomic hybridization in detecting the most common chromosomal abnormalities in pediatric myelodysplastic syndromes [J].Cancer Genet Cytogenet, 2005, 158(1): 49-54.
  • 8[8]Cherian S, Moore J, Bantly A, et al. Peripheral blood MDS score: a new flow cytometric tool for the diagnosis of myelodysplastic syndromes [J]. Cytometry B Clin Cytom, 2005, 64(1): 9-17.
  • 9张之南,血液病诊断及疗效标准(第2版),1998年,258页
  • 10李建勇,中华血液学杂志,2000年,21卷,179页

共引文献36

同被引文献42

  • 1李大启,王椿,秦尤文,张帆,谢匡成,颜式可,金力,赵寿元.异基因外周血干细胞移植后淋巴细胞和粒细胞嵌合体的动态改变[J].临床血液学杂志,2005,18(2):67-70. 被引量:8
  • 2秦尤文,蔡宇,王椿,颜式可,高彦荣,蔡琦.骨髓增生异常综合征的细胞遗传学研究[J].诊断学理论与实践,2005,4(5):371-374. 被引量:5
  • 3万理萍,王椿,颜式可,李大启,秦尤文,谢匡成.异基因造血干细胞移植后的嵌合状态分析[J].中华内科杂志,2006,45(6):485-488. 被引量:10
  • 4王小钦,林果为.282例原发性骨髓增生异常综合征诊断和分型的前瞻性临床研究[J].中华血液学杂志,2006,27(8):546-549. 被引量:34
  • 5Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood, 2002, 100:2292-2302.
  • 6Jaffe ES, Harris NL, Stein H, et al. World Health Organization classification of tumours: pathology and genetics of tumours of haematopoietic and lymphoid tissues. Lyon: IARC Press, 2001 : 61-73.
  • 7Germing U, Gattermann N, Strupp C, et al. Validation of the WHO proposals for a new classification of primary myelodysplastic syndromes: a retrospective analysis of 1600 patients. Leuk Res, 2000,24:983-992.
  • 8Godon C, Talmant P, Garand R, et al. Deletion of 5q31 is observed in megakaryocytic cells in patients with myelodysplastic syndromes and a del (5q), including the 5q - syndrome. Genes Chromosomes Cancer, 2000, 29:350-352.
  • 9Bigoni R, Cuneo A, Milani R, et al. Muhilineage involvement in the 5q - syndrome: a fluorescent in situ hybridization study on bone marrow smears. Haematologica, 2001, 86:375-381.
  • 10Hast R, Eriksson M, Widell S, et al. Neutrophil dysplasia is not a specific feature of the abnormal chromosomal clone in myelodysplastic syndromes. Leuk Res, 1999, 23: 579-584.

引证文献4

二级引证文献11

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