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骨髓增生异常综合征的诊断 被引量：9

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摘要 骨髓增生异常综合征（myelodysplastic syndrome,MDS）的主要病理生理本质是：（1）其是起源于造血干细胞的克隆性疾病;（2）出现粒系、红系和巨核细胞系的一系或多系发育异常;（3）表现为无效造血,外周血可见一系或多系的血细胞计数减少。因此,MDS的诊断要抓住3个关键词,即（1）血细胞计数减少;（2）发育异常（从广义的细胞形态学分析及流式细胞术免疫表型分析等方法确证细胞发育异常的表现）;（3）克隆性造血（应用细胞遗传学和分子生物学方法寻找克隆性证据）。
作者 肖志坚
机构地区 中国医学科学院血液病医院血液学研究所
出处 《诊断学理论与实践》 2016年第6期545-549,共5页 Journal of Diagnostics Concepts & Practice
关键词 骨髓增生异常综合征 诊断 细胞形态学 细胞遗传学 基因
分类号 R551.3 [医药卫生—血液循环系统疾病]
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  • 1Rigolin GM, Bigoni R, Milani R, et al. Clinical importance of interphase cytogenetics detecting occult chromosome lesions in myelodysplastic syndromes with normal karyotype. Leukemia, 2001,15:1841-1847.
  • 2Romeo M, Chauffaille Mde L, Silva MR, et al. Comparison of cytogenetics with FISH in 40 myelodysplastic syndrome patients. Leuk Res, 2002, 26:993-996.
  • 3Bernasconi 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 of 57 patients. Leukemia, 2003, 17:2107-2112.
  • 4Yang W, Stotler B, Sevilla DW, et al. FISH analysis in addition to G-band karyotyping: utility in evaluation of myelodysplastic syndromes?. Leuk Res, 2010, 34:420-425.
  • 5Kettering RP, Wyatt WA, VanWier SA, et al. Primary myelodysplastic syndrome with normal cytogenetics: utility of ' FISH panel testing' and M-FISH. Leuk Res, 2002, 26:235-240.
  • 6Cherry AM, Brockman SR, Paternoster SF, et al. Comparison of interphase FISH and metaphase cytogenetics to study myelodysplastic syndrome : an Eastern Cooperative Oneology Group ( ECOG ) study. Leuk Res, 2003, 27, 1085-1090.
  • 7Beyer V, Castagne C, Mtihlematter D, et al. Systematic screening at diagnosis of - 5/del (5) ( q31 ) , - 7, or chromosome 8 aneuploidy by interphase fluorescence in situ hybridization in 110 acute myelocytic leukemia and high risk myelodysplastic syndrome patients: concordances and discrepancies with conventional cytogenetics. Cancer Genet Cytogenet, 2004, 152:29-41.
  • 8Mallo M, Arenillas L, Espinet B, et al. Fluorescence in situ hybridization improves the detection of 5q31 deletion in myelodysplastic syndromes without cytogenetic evidence of 5q -. Haematologica, 2008, 93 : 1001-1008.
  • 9Pitchford CW, Hettinga AC, Reichard KK. Fluorescence in situ hybridization testing for - 5/5q, - 7/7q, + 8, and del (20q) in primary myelodysplastic syndrome correlates with conventional cytogenetics in the setting of an adequate study. Am J Clin Pathol, 2010, 133:260-264.
  • 10Coleman JF, Theil KS, Tubbs RR, et al. Diagnostic yield of bone marrow and peripheral blood FISH panel testing in clinically suspected myelodysplastic syndromes and/or acute myeloid leukemia: a prospective analysis of 433 cases. Am J Clin Pathol, 2011, 135:915-920.

共引文献49

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引证文献9

二级引证文献62

诊断学理论与实践
2016年 第6期

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