Suppr超能文献

监测多发性骨髓瘤患者血浆无细胞游离 DNA 中的突变 KRAS 可预测疾病进展:一例报告。

Monitoring mutant KRAS in plasma cell-free DNA can predict disease progression in a patient with multiple myeloma: A case report.

机构信息

Division of Metabolism and Biosystemic Science, Gastroenterology and Hematology/Oncology, Department of Medicine, Asahikawa Medical University, Asahikawa, Japan.

Division of Metabolism and Biosystemic Science, Gastroenterology and Hematology/Oncology, Department of Medicine, Asahikawa Medical University, Asahikawa, Japan.

出版信息

Clin Chim Acta. 2023 Nov 1;551:117590. doi: 10.1016/j.cca.2023.117590. Epub 2023 Oct 12.

Abstract

BACKGROUND AND AIMS

Multiple myeloma (MM), a neoplasm of plasma cells (PCs), is a highly heterogeneous disease with multifocal dissemination throughout the body. Minimal residual disease (MRD) detected using PCs in bone marrow (BM) is important for MM management; however, frequent invasive examinations impose a significant burden on patients.

METHODS

Analysis using plasma cell-free DNA (cfDNA) might represent an alternative tool for disease monitoring. In this study, we observed the disease status in a patient with MM by examining the KRAS mutation allele frequency (MAF) in plasma cfDNA using digital PCR.

RESULTS

During treatment, the MAF was correlated with serum immunoglobulin A and free light chain-kappa levels. After the second autologous peripheral blood stem cell transplantation, the KRAS MAF became immediately positive after confirming MRD negativity using PCs from BM. Shortly thereafter, the patient experienced clinical relapse primarily involving bone lesions.

CONCLUSION

Mutant KRAS monitoring in cfDNA using serial blood collection might reflect the disease status more accurately than invasive BM examinations, especially in patients with MM whose primary lesions have extra-BM locations. It could also help predict treatment responses and outcomes.

摘要

背景与目的

多发性骨髓瘤(MM)是一种浆细胞(PC)的肿瘤,是一种具有高度异质性的疾病,在全身多部位扩散。骨髓(BM)中 PC 检测到的微小残留病(MRD)对 MM 的管理很重要;然而,频繁的侵入性检查给患者带来了很大的负担。

方法

使用无浆细胞游离 DNA(cfDNA)的分析可能代表一种替代的疾病监测工具。在这项研究中,我们通过使用数字 PCR 检测血浆 cfDNA 中的 KRAS 突变等位基因频率(MAF)来观察 MM 患者的疾病状态。

结果

在治疗过程中,MAF 与血清免疫球蛋白 A 和游离轻链 κ 水平相关。在第二次自体外周血干细胞移植后,在确认 BM 中 PC 的 MRD 阴性后,KRAS MAF 立即变为阳性。此后不久,患者出现了主要涉及骨病变的临床复发。

结论

使用连续采血的 cfDNA 中突变 KRAS 的监测可能比侵入性 BM 检查更能准确反映疾病状态,特别是对于主要病变位于骨髓外的 MM 患者。它还可以帮助预测治疗反应和结果。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验