| 蔡莹 林帅 史策 张笑茜 张迎媚 赵辉 周晋.荧光原位杂交技术检测骨髓增生异常综合征染色体异常的临床意义[J].现代生物医学进展英文版,2014,14(26):5096-5099. |
| 荧光原位杂交技术检测骨髓增生异常综合征染色体异常的临床意义 |
| Chromosomal Abnormalities Detected by Fluorescence in Situ Hybridizationand Their Clinical Significance in Patients with Myelodysplastic Syndrome |
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| DOI： |
| 中文关键词: 骨髓增生异常综合征 荧光原位杂交 染色体异常 预后 |
| 英文关键词: Myeledysplasfic syndrome Fluorescence in situ hybridization Chromosomal abnormalities Prognosis |
| 基金项目:黑龙江省教育厅科学技术研究项目(12521264) |
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| 中文摘要: |
| 目的：探讨荧光原位杂交（FISH）技术检测骨髓增生异常综合征（MDS）染色体异常的敏感性，特异性及临床意义。方法：采用
细胞遗传学分析（CCA）和组合探针CSF1R/D5S23，D5S721 （5q33），EGR1/ D5S23，D5S721 （5q31），D7S486/CSP7（7q31），
D7S522/CSP7（7q31），D20S108/CSP8（20q12/CSP8）检测45 例MDS 患者骨髓细胞的染色体异常，并比较检测结果。结果：两种方
法共检出染色体异常26例(58%)，染色体数目异常9 例，占34.6％；染色体结构异常13例，占50％；复杂核型4 例。CCA 检出+8
和20q-各3 例，7q-2 例；FISH 检出7 号染色体异常8 例占17.8％(8/45)，两组间比较差异有统计学意义（P=0.0441713）。FISH 检出
+8 和20q-各5例，5q- 异常4例。7 号染色体异常和复杂核型组与核型正常组比较转白率高。结论：组合探针检出MDS 中5q-,
-7/7q-,+8,20q-核型异常高于CCA，CCA 结合FISH技术能提高MDS染色体异常的检出率，对于疾病诊断，判断预后具有重要价
值。 |
| 英文摘要: |
| Objective:To investigate the sensitivity, specificity and clinical significance of the chromosomal abnormalities in
patients with myelodysplastic syndrome (MDS)．Methods:To test chromosomal abnormalities in the bone marrow cells of 45 patients
with MDS by the CSF1R/D5S23, D5S721 (5q33), EGR1/D5S23, D5S721 (5q31), D7S486/CSP7 (7q31), D7S522/CSP7 (7q31),
D20S108/CSP8 (20q12/CSP8) combinational probes and to compare the results with the conventional cytogenetic analysis (CCA).Results:Chromosomal anomalies were detected in 26 of 45 patients (58%) by either FISH or CCA. Among the 26 patients, 9 were
numerical chromosomal anomalies (34.6％), 13 were structural rearrangements (50％), and 4 were complex chromosomal abnormalities.
3 trisomy 8 (+8), 3 who had loss of long arm of chromosome 21 (21q-), and 2 cases (2/45, 4.4%) associated without long arm of
chromosome 7(7q-) were detected by CCA. Among the 8 patients with abnormalities of chromosome, 7(17.8%) were detected by FISH.
There was statistically significant difference between the two groups(P=0.0441713). 5 patients were +8, 5 were 20q-, and 4 were 5q- that
were detected by FISH. The probability of -7/7q- or complex chromosomal abnormalities transformed into leukemia was higher.Conclusion:Detection rates of MDS 5q-, -7/7q-,+8, 20q- abnormal karyotypes by combinational probes were higher than those of the
results detected by the CCA. CCA combined with FISH technology could improve the detection rate which is helpful for the diagnosis,
the treatment and the prognosis. |
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