美国麻省理工学院和哈佛大学布罗德研究所Benjamin L. Ebert小组宣布他们发现了淋巴样和髓系克隆造血(CH)的区别。相关论文于2021年10月18日发表在《自然-医学》杂志上。

研究人员分析了英国生物银行和Mass General Brigham生物银行中没有血液系统恶性肿瘤病史的55,383名个体的不确定潜力CH (CHIP)和 420,969名个体的常染色体镶嵌染色体改变(mCA)。研究区分了骨髓和淋巴体细胞基因突变，以及骨髓和淋巴mCA，并发现两者都与谱系特异性血液系统恶性肿瘤风险相关。此外，研究人员对外周血细胞计数参数进行了体细胞改变的综合分析，以对发生髓系和淋巴系恶性肿瘤的风险进行分层。这些基因改变可以很容易在临床测序中检测到，并可以与血细胞计数参数一起使用来识别肯可能发生血液系统恶性肿瘤的高风险个体。 

研究人员表示，克隆性造血是由体细胞基因组改变引起的，这些改变诱导了血细胞的克隆扩增。在健康个体的造血细胞中检测到的与血液系统恶性肿瘤相关的体细胞基因突变，称为CHIP，与骨髓恶性肿瘤有关，而mCA与恶性淋巴肿瘤有关。

附：英文原文

Title: Distinction of lymphoid and myeloid clonal hematopoiesis

Author: Niroula, Abhishek, Sekar, Aswin, Murakami, Mark A., Trinder, Mark, Agrawal, Mridul, Wong, Waihay J., Bick, Alexander G., Uddin, Md Mesbah, Gibson, Christopher J., Griffin, Gabriel K., Honigberg, Michael C., Zekavat, Seyedeh M., Paruchuri, Kaavya, Natarajan, Pradeep, Ebert, Benjamin L.

Issue&Volume: 2021-10-18

Abstract: Clonal hematopoiesis (CH) results from somatic genomic alterations that drive clonal expansion of blood cells. Somatic gene mutations associated with hematologic malignancies detected in hematopoietic cells of healthy individuals, referred to as CH of indeterminate potential (CHIP), have been associated with myeloid malignancies, while mosaic chromosomal alterations (mCAs) have been associated with lymphoid malignancies. Here, we analyzed CHIP in 55,383individuals and autosomal mCAs in 420,969individuals with no history of hematologic malignancies in the UK Biobank and Mass General Brigham Biobank. We distinguished myeloid and lymphoid somatic gene mutations, as well as myeloid and lymphoid mCAs, and found both to be associated with risk of lineage-specific hematologic malignancies. Further, we performed an integrated analysis of somatic alterations with peripheral blood count parameters to stratify the risk of incident myeloid and lymphoid malignancies. These genetic alterations can be readily detected in clinical sequencing panels and used with blood count parameters to identify individuals at high risk of developing hematologic malignancies.

DOI: 10.1038/s41591-021-01521-4

Source: https://www.nature.com/articles/s41591-021-01521-4