本文研究中，研究者对3000名病人的血液样本进行分析研究者Li Ding说道，我们并不知道有多少70岁以上的个体都携带有这些风险突变，这项研究的重点就在于对大量个体进行了筛查，研究者并不知道是否其中的一个突变会引发个体更高的血癌风险，而后续还需要进行更多的研究来揭示患血癌的风险。
接下来的研究中，研究人员主要对556个已知的癌症基因进行分析，在341名40至49岁的患者中，低于1%的患者携带19个和白血病或淋巴瘤相关的基因；但是在475名70岁至79岁的个体中，有超过5%的个体携带有上述的19个风险基因，而在132名80岁至89岁的个体中有超过6%的个体中都存在上述基因突变。
研究者指出，19个风险基因中有9个基因会重复突变，这也是诱发突变的血细胞不断增殖的原因。当前的研究似乎低估了携带白血病和淋巴瘤风险基因的患者的百分比，因为研究人员仅仅鉴别出了很小的一部分突变，并没有鉴别出机体遗传物质的较大范围的结构性突变或插入突变等。因此对于人类来讲，进行遗传测试检测是否携带和白血病及淋巴瘤相关的基因突变来作为预测血癌风险还为时过早。
最后研究者Timothy Ley博士表示，我们并不想让每一个人都认为他们必须进行筛查来检测其患癌的风险，理解增加个体患血癌风险的基因突变的机制或许还需要很长一段路要走，而此时进行遗传测试或许对于个体并无益处。如果研究人员可以在千百万人中重复上述的实验结果，那么他们就可以更加准确地鉴别出个体患白血病及淋巴癌的风险了。
转化医学网推荐的原文摘要：
Age-related mutations associated with clonal hematopoietic expansion and malignancies
Nature Medicine doi:10.1038/nm.3733
Mingchao Xie, Charles Lu, Jiayin Wang, Michael D McLellan, Kimberly J Johnson, Michael C Wendl, Joshua F McMichael, Heather K Schmidt, Venkata Yellapantula, Christopher A Miller, Bradley A Ozenberger, John S Welch, Daniel C Link, Matthew J Walter, Elaine R Mardis, John F Dipersio, Feng Chen, Richard K Wilson, Timothy J Ley & Li Ding
Several genetic alterations characteristic of leukemia and lymphoma have been detected in the blood of individuals without apparent hematological malignancies. The Cancer Genome Atlas (TCGA) provides a unique resource for comprehensive discovery of mutations and genes in blood that may contribute to the clonal expansion of hematopoietic stem/progenitor cells. Here, we analyzed blood-derived sequence data from 2,728 individuals from TCGA and discovered 77 blood-specific mutations in cancer-associated genes, the majority being associated with advanced age. Remarkably, 83% of these mutations were from 19 leukemia and/or lymphoma-associated genes, and nine were recurrently mutated (DNMT3A, TET2, JAK2, ASXL1, TP53, GNAS, PPM1D, BCORL1 and SF3B1). We identified 14 additional mutations in a very small fraction of blood cells, possibly representing the earliest stages of clonal expansion in hematopoietic stem cells. Comparison of these findings to mutations in hematological malignancies identified several recurrently mutated genes that may be disease initiators. Our analyses show that the blood cells of more than 2% of individuals (5–6% of people older than 70 years) contain mutations that may represent premalignant events that cause clonal hematopoietic expansion.
