| 克隆性造血对肿瘤体细胞突变检测的影响 |
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| 引用本文： | 陈馨宁,王蓓丽,郭 玮.克隆性造血对肿瘤体细胞突变检测的影响[J].中国癌症杂志,2020,30(9):707-711. |
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| 作者姓名： | 陈馨宁 王蓓丽 郭 玮 |
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| 作者单位： | 1. 复旦大学附属中山医院检验科，上海 200032 ；
2. 复旦大学附属中山医院厦门医院检验科，福建 厦门 361015 |
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| 基金项目： | 国家自然科学基金（81772263，81972000，81902139）；2019厦门市医疗卫生重点项目（YDZX20193502000002）；复旦大学附属中山医院临床研究专项基金（2018ZSLC05）；上海市临床重点专科建设项目（医学检验科）。 |
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| 摘 要： | 克隆性造血（clonal hematopoiesis，CH）突变是造血干细胞（hematopoietic stem cell，HSC）携带的突变，是年龄和外在环境（吸烟、放化疗等）共同作用的结果。随着肿瘤基因研究的进展，基因检测已成为实体瘤患者全病程管理中一个重要的环节。目前CH在实体瘤中的价值越来越受到关注。将围绕CH的检出，详细阐述实体瘤患者组织样本及循环肿瘤DNA （circulating tumor DNA，ctDNA）样本中CH的检测方法，探讨CH对肿瘤体细胞突变检测的影响和挑战。
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| 关 键 词： | 克隆性造血 肿瘤 基因检测 循环肿瘤DNA 体细胞突变 |
Impact of clonal hematopoiesis on the detection of somatic mutation |
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| CHEN Xinning,WANG Beili,GUO Wei.Impact of clonal hematopoiesis on the detection of somatic mutation[J].China Oncology,2020,30(9):707-711. |
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| Authors: | CHEN Xinning WANG Beili GUO Wei |
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| Institution: | 1. Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, Shanghai 200032, China; 2. Department of Laboratory Medicine, Xiamen Branch, Zhongshan Hospital, Fudan University, Xiamen 361015, Fujian Province, China |
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| Abstract: | Clonal hematopoiesis (CH) is mutation derived from hematopoietic stem cell (HSC). It is the result of the joint action of age and external environment (smoking, radiotherapy and chemotherapy, etc.). With the development of tumor genomics, genetic testing has become an important part in the whole course medical management of patients with tumor. The value of CH in solid tumors has attracted more and more attention. Focusing on the detection of CH, this review described in detail the detection methods of CH in tissue samples and circulating tumor DNA (ctDNA) samples. Furthermore, we explored the influence and challenge of CH on the detection of somatic mutation in tumors. |
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| Keywords: | Clonal hematopoiesis Tumor Genetic testing Circulating tumor DNA Somatic mutation |
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