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多发性骨髓瘤中13号染色体异常大多为13号染色体单体性。

Chromosome 13 abnormalities in multiple myeloma are mostly monosomy 13.

作者信息

Avet-Louseau H, Daviet A, Sauner S, Bataille R

机构信息

Laboratory of Haematology, University Hospital, Nantes, France.

出版信息

Br J Haematol. 2000 Dec;111(4):1116-7. doi: 10.1046/j.1365-2141.2000.02488.x.

Abstract

Chromosome 13 abnormalities are frequently observed in multiple myeloma (MM). Several reports recently demonstrated the strong prognostic value of these abnormalities, associated with a short survival. Cytogenetic studies have shown that most of these abnormalities are complete monosomies. In order to define the common minimal deletion, we analysed a series of 234 patients with MM using fluorescence in situ hybridization (FISH) with a panel of five probes mapping along the whole chromosome 13. A chromosome 13 abnormality was observed in 98 patients (42%), 90 of whom (92%) displayed a complete monosomy. In seven of the eight remaining patients presenting partial deletions, the three probes specific for the 13q14 region were deleted. Only one patient (1%) displayed a small deletion of the D13S319 locus. In conclusion, FISH should be used for the analysis of chromosome 13 abnormalities, using probes mapping in the 13q14 region.

摘要

13号染色体异常在多发性骨髓瘤(MM)中经常被观察到。最近的几份报告证明了这些异常具有很强的预后价值,与生存期短相关。细胞遗传学研究表明,这些异常大多是完全单体性。为了确定常见的最小缺失区域,我们使用一组沿13号染色体全长定位的5种探针,通过荧光原位杂交(FISH)分析了234例MM患者。98例患者(42%)观察到13号染色体异常,其中90例(92%)表现为完全单体性。在其余8例出现部分缺失的患者中,有7例缺失了13q14区域特异的3种探针。只有1例患者(1%)显示D13S319位点有小的缺失。总之,应使用位于13q14区域的探针,通过FISH分析13号染色体异常。

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