微卫星不稳定性是多发性骨髓瘤的常见表现

Ayşen Timurağaoğlu , Sema Demircin , Seray Dizlek , Guchan Alanoğlu , Evren Kiriş
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引用次数: 12

摘要

微卫星不稳定性(microsatellite instability, MSI)是DNA复制过程中由于DNA重复区缩短或伸长而导致DNA序列滑动的结果。这种异常通常可以通过DNA错配修复(MMR)基因编码的酶来纠正。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。患者与方法对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5个不同位点的MSI进行了检测。结果54%的患者有MSI,且至少有1个位点,但MSI在不同临床阶段与MM亚型之间无显著相关性。5例轻链骨髓瘤未见MSI。结论虽然病例数量较少,但重链MM的基因组不稳定性可能是一个普遍的发现,并可能在MM的发病机制中起关键作用。
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Microsatellite Instability Is a Common Finding in Multiple Myeloma

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.

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