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荧光原位杂交技术检测多发性骨髓瘤分子遗传学改变及其意义 被引量:6

Investigation of the molecular changes in patients with multiple myeloma by fluorescence in situ hybridization
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摘要 目的研究多发性骨髓瘤(multiple myeloma,MM)患者1q21扩增、13q14缺失、TP53基因缺失及IgH易位的发生率及预后意义。方法应用CD138单克隆抗体磁珠分选结合间期荧光原位杂交技术检测43例MM患者上述各种核型异常。结果43例患者中28例(65.1%)出现了1q21的扩增,30例(69.7%)出现了13q14的缺失,8例(18.6%)出现了TP53基因的缺失,29例(67.4%)出现了IgH易位。1q21扩增、13q14缺失和TP53基因缺失与MM高死亡率有密切相关性。结论lq21扩增、13q14缺失、TP53基因缺失及IgH易位是MM常见的核型异常,1q21扩增、13q14缺失和,rP53基因缺失是MM的预后不良因子。 Objective To investigate the incidence and prognosis of lq21 amplification, 13q14 deletion, TP53 gene deletion and IgH translocation in patients with multiple myeloma (MM). Methods Interphase fluorescence in situ hybridization (I FISH) with four different specific probes for the regions containing lq21, 13@4.3 (D13S319), 14q32 and TP53 gene were performed in 43 MM patients. Results Among the 43 MM patients, 1q21 amplification was observed in 28 (65. 1%) cases, 13q14 deletion in 30 (69.7%) cases, TP53 gene deletion in 8 (18.6%) cases, and IgH translocation in 29 (67.4%) cases. The mortality of MM patients with lq21 amplification, 13q14 deletion or TP53 gene deletion was higher than those without them. Conclusion There is high frequency of lq21 amplification, 13q14 deletion, TP53 gene deletion and IgH translocation in multiple myeloma, and lq21 amplification, 13q14 deletion and TP53 gene deletion are poor prognosis factors for MM patients.
出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2010年第5期567-570,共4页 Chinese Journal of Medical Genetics
基金 国家自然科学基金(30971294) 江苏省社会发展基金(Bs2006071) 江苏省自然科学基金(BK2008465) 江苏省六大高峰人才基金以及江苏省卫生厅科研基金(H200932)
关键词 多发性骨髓瘤 荧光原位杂交 预后 multiple myeloma fluorescence in situ hybridization prognosis
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  • 1Shaughnessy J,Zhan F,Burington B,et a1.A validated gene expression modelof hIGH-risk multiple myeloma is defined by disregulated expression of genesmapping chromosome 1[J].Blood,2007,109(6):2276-2284.
  • 2Zhan F,Colla S,Wu X,et a1.CKSlB,overexpressed in aggressive disease,regulatesmultiple myeloma growth and survival through SKP2-and p27Kipl-dependent andindependentmechanisms[J].Blood,2007,109(11):4995-5001.
  • 3Shaughnessy J.Amplification and overexpression of CKS1B at chromosome bandlq21 is associated with reduced levels of p27 and an aggressive clinical coursein multiple myeloma[J].Hematology,2005,10(suppl 1):117-126.
  • 4Chng WJ,Van Wier SA,Ahmann GJ,et al.A validated FISH trisomy indexdemonstrates the hyperdiploid and nonhyperdiploid dichotomy in MGUS[J].Blood,2005,106(6):2156-2161.
  • 5Saughnessy J,Tian E,Sawyer J,et a1.High incidence of chromosome 13deletion in multiple myeloma detected by multiprobe interphase FISH[J].Blood,2000,96(4):1505.
  • 6Facon T,Aver-Leiseau H,Guillerm G,et a1.Chromosome 13 abnormaliiesidentified by FISH analysis and serum β2-microglobulin produce a powerfulmyeloma staging system for patients receiving hIGH-dose therapy[J].Blood,2001,97(6):1561-1577.
  • 7Jens H,Christian MZ,Andreas N,et a1.Gain of lq21 and distinct adversecytogenetic abnormalities correlate with increased microcirculation in multiplemyeloma[J].Int J Cancer,2008,122(12):2871-2875.
  • 8Sabattini E,Bacci F,Sagramoso C,et al.WHO classification of tumours of haematopoietic and lymphoid tissues in 2008:an overview[J].Pathologica,2010,102(3):83-87
  • 9Kawankar N,Rao Vundinti B.Cytogenetic abnormalities in myelodysplasticsyndrome:an overview[J].Hematology,2011,16(3):131-138
  • 10Birerdinc A,Nohelty E,Marakhonov A,et al.Pro-apoptotic andantiproliferative activity of human KCNRG,a putative tumor suppressor in13q14 region[J].Tumor Biol,2010,31(1):33-45

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