Molecular analysis of 11q13 breakpoints in multiple myeloma.
Molecular analysis of 11q13 breakpoints in multiple myeloma.
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DOI：
10.1182/blood.v93.4.1330
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发表时间：
1999-02
期刊：
影响因子：
20.3
通讯作者：
D. Ronchetti;P. Finelli;R. Richelda;L. Baldini;M. Rocchi;L. Viggiano;A. Cuneo;S. Bogni;S. Fabris;L. Lombardi;A. Maiolo;A. Neri
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文献类型：
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作者：
D. Ronchetti;P. Finelli;R. Richelda;L. Baldini;M. Rocchi;L. Viggiano;A. Cuneo;S. Bogni;S. Fabris;L. Lombardi;A. Maiolo;A. Neri
T(11；14)(q13；q32)染色体易位是套细胞淋巴瘤(MCL)的特征，约30%的多发性骨髓瘤(MM)存在14q32易位。虽然细胞周期蛋白D1的过度表达与携带t(11；14)的多发性骨髓瘤细胞株相关，但在多发性骨髓瘤细胞系或原发肿瘤中，bcl1/细胞周期蛋白D1区的重排在多发性骨髓瘤细胞系或原发肿瘤中很少发生。为了测试特定的11q13断点簇是否可能发生在多发性骨髓瘤中，我们使用来自多发性骨髓瘤相关的11q13断点的探针，通过Southern印迹分析的方法研究了具有代表性的原发肿瘤小组。为此，我们首先克隆了原发肿瘤和U266细胞系的断裂点和相应的生殖系区域，以及KMS-12细胞系的生殖系区域。使用一大组探针测试了50个原发肿瘤的DNA，但使用KMS-12断点探针仅在一个病例中检测到重排。我们的结果证实了之前的发现，即MM中的11q13断裂点散布在包含细胞周期蛋白D1基因的11q13区域，因此提示MM中不存在11q13断点簇。
The t(11;14)(q13;q32) chromosomal translocation, which is the hallmark of mantle cell lymphoma (MCL), is found in approximately 30% of multiple myeloma (MM) tumors with a 14q32 translocation. Although the overexpression of cyclin D1 has been found to be correlated with MM cell lines carrying the t(11;14), rearrangements of the BCL-1/cyclin D1 regions frequently involved in MCL rarely occur in MM cell lines or primary tumors. To test whether specific 11q13 breakpoint clusters may occur in MM, we investigated a representative panel of primary tumors by means of Southern blot analysis using probes derived from MM-associated 11q13 breakpoints. To this end, we first cloned the breakpoints and respective germ-line regions from a primary tumor and the U266 cell line, as well as the germ-line region from the KMS-12 cell line. DNA from 50 primary tumors was tested using a large panel of probes, but a rearrangement was detected in only one case using the KMS-12 breakpoint probe. Our results confirm previous findings that the 11q13 breakpoints in MM are scattered throughout the 11q13 region encompassing the cyclin D1 gene, thus suggesting the absence of 11q13 breakpoint clusters in MM.