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微卫星不稳定性是多发性骨髓瘤中的常见现象。

Microsatellite instability is a common finding in multiple myeloma.

作者信息

Timurağaoğlu Ayşen, Demircin Sema, Dizlek Seray, Alanoğlu Guchan, Kiriş Evren

机构信息

Department of Hematology, Akdeniz University, School of Medicine, Isparta, Turkey.

出版信息

Clin Lymphoma Myeloma. 2009 Oct;9(5):371-4. doi: 10.3816/CLM.2009.n.072.

Abstract

PURPOSE

Microsatellite instability (MSI) occurs as a result of sliding in the DNA sequences from shortening or elongation of the repeat zones of DNA during replication. Such abnormalities can normally be corrected by the enzymes coded by the DNA mismatch repair (MMR) genes. Therefore, detection of MSI is considered to be a sign of disorder of the MMR genes and is interpreted as a replication error phenotype.

PATIENTS AND METHODS

We evaluated the MSI in 5 different loci in the 14q32 region of immunoglobulin heavy chain IgH gene in 26 newly diagnosed patients with multiple myeloma (MM).

RESULTS

Fifty-four percent of the patients disclosed MSI and at least 1 locus but no significant association of MSI was found between different clinical stages and the MM subtype. MSI was not found in 5 light-chain myeloma patients.

CONCLUSION

Although our case number is small, probably the genomic instability in heavy-chain MM may be a common finding and probably plays a critical role in the MM pathogenesis.

摘要

目的

微卫星不稳定性(MSI)是由于DNA复制过程中重复区域的缩短或延长导致DNA序列滑动而产生的。这种异常通常可由DNA错配修复(MMR)基因编码的酶纠正。因此,MSI的检测被认为是MMR基因紊乱的标志,并被解释为复制错误表型。

患者与方法

我们评估了26例新诊断的多发性骨髓瘤(MM)患者免疫球蛋白重链IgH基因14q32区域5个不同位点的MSI。

结果

54%的患者显示MSI且至少有1个位点,但未发现不同临床分期与MM亚型之间MSI有显著关联。5例轻链骨髓瘤患者未发现MSI。

结论

尽管我们的病例数较少,但重链MM中的基因组不稳定性可能是一个常见发现,并且可能在MM发病机制中起关键作用。

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