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免疫球蛋白重链可变区基因的高突变率与套细胞淋巴瘤患者的不良生存及化疗反应相关。

A high mutation rate of immunoglobulin heavy chain variable region gene associates with a poor survival and chemotherapy response of mantle cell lymphoma patients.

作者信息

Li Xianqian, Wu Ning, Li Bin

机构信息

Clinical Laboratory, Shanghai Yangpu District Psychiatric Hospital.

Department of Hematology.

出版信息

Medicine (Baltimore). 2019 May;98(22):e15811. doi: 10.1097/MD.0000000000015811.

DOI:10.1097/MD.0000000000015811
PMID:31145313
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6708879/
Abstract

Immunoglobulin heavy chain variable region (IGHV) gene mutation status is a biomarker for the prognosis of chronic lymphocytic leukemia, whether it is associated with the diagnosis, staging, and prognosis of patients with mantle cell lymphoma (MCL) remains to be determined.The IGHV gene mutations of 52 MCL patients were determined by DNA sequencing and compared with published IGHV germline sequences.DNA sequence alignment of IGHV variable regions with published IGHV germline sequences showed that the coincidence rate was 94% to 100%. Ten cases (21%) were significantly mutated with the rate of 96.9% to 94.0%. The overall survival time of patients was negatively correlated with the degree of IGHV gene mutation. Further survival analysis with log-rank test demonstrated that the patients with significant IGHV gene mutations showed a trend towards poor survival.The mutation rate of the IGHV variant region may be determined to assess the prognosis and overall survival time of MCL patients.

摘要

免疫球蛋白重链可变区(IGHV)基因突变状态是慢性淋巴细胞白血病预后的生物标志物,其是否与套细胞淋巴瘤(MCL)患者的诊断、分期及预后相关仍有待确定。通过DNA测序确定了52例MCL患者的IGHV基因突变情况,并与已发表的IGHV种系序列进行比较。IGHV可变区与已发表的IGHV种系序列的DNA序列比对显示,符合率为94%至100%。10例(21%)发生显著突变,突变率为96.9%至94.0%。患者的总生存时间与IGHV基因突变程度呈负相关。采用对数秩检验进行的进一步生存分析表明,IGHV基因发生显著突变的患者生存情况较差。可通过确定IGHV变异区的突变率来评估MCL患者的预后和总生存时间。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d40/6708879/3df1096626b3/medi-98-e15811-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d40/6708879/7caf8dc3bd67/medi-98-e15811-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d40/6708879/35953c9f3e00/medi-98-e15811-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d40/6708879/3df1096626b3/medi-98-e15811-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d40/6708879/7caf8dc3bd67/medi-98-e15811-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d40/6708879/35953c9f3e00/medi-98-e15811-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d40/6708879/3df1096626b3/medi-98-e15811-g004.jpg

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Br J Haematol. 2018 Jan;180(1):33-40. doi: 10.1111/bjh.15018. Epub 2017 Nov 21.
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SF3B1 and IGHV gene mutation status predict poor prognosis in Japanese CLL patients.SF3B1和IGHV基因突变状态可预测日本慢性淋巴细胞白血病患者的不良预后。
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套细胞淋巴瘤:不断发展的治疗策略。
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