Utah researchers report significant new insights into the development of blood cancers. 在工作 今天发表于 发现血癌, 美国癌症研究协会的期刊, 科学家们描述了一项对超过7个国家发表的数据的分析,000名被诊断患有白血病和其他血液疾病的患者. Their findings provide new clues about mutations that may initiate cancer development and those that may help cancer to progress.
研究人员试图确定突变热点, or frequent changes in specific locations of the cancer patients' genetic information. The researchers then used these hotspots to look for whether the same mutations were present in the DNA data of more than 4,500名未被诊断出患有癌症的人. 他们发现，在这些被认为健康的参与者中，大约有2%的人患有糖尿病, 在低水平, 与癌症患者身上经常观察到的基因突变相同.
"Understanding how a disease develops is greatly benefited by studying persons who are currently healthy but are on a trajectory for disease onset,” 克林特·梅森博士, 美国大学儿科助理教授, 谁专门研究癌症基因组学和生物信息学并领导了这项研究.
Mutations occur throughout the 3 billion bases of DNA that are present in human cells. 许多对健康没有影响, 然而，某些突变可能导致或支持疾病的发展, 包括癌症. Therefore, scientists are working to discern which mutations have a significant impact on health. 在这项研究中, the researchers sought to understand which mutations are most frequently present in adults and children both with and without blood cancers. 他们希望这一信息能够阐明对这些癌症的理解, 并进一步, 是否有可能被用来识别癌症患者.
研究小组几乎全部由 犹他大学（犹他大学） 教师和学生. 加入梅森的还有共同第一作者朱莉·福西耶, 博士学位, a trainee in the department of human genetics and now a postdoctoral fellow at 亨茨曼癌症研究所, 和萨西姆, 博士学位, a postdoctoral fellow at 亨茨曼癌症研究所 and now a research associate at St. Jude Children's 研究 Hospital, in performing analyses along with other co-authors.
研究的第一部分, the researchers completed a large data mining analysis to examine published data from 48 cancer studies that reported mutations present in persons who were being diagnosed with leukemia or other hematologic malignancies. 穿过七层,430名儿童和成人癌症患者, 434个DNA位点被确定为频繁突变. 然后, 在随后对许多tb的公开基因数据的分析中, the researchers identified these same cancer-relevant mutations 在低水平 among 83 of the 4,538名可能没有癌症的人.
"When identical mutations are found to be present in a small percentage of blood cells of a healthy person, 这可能表明一些不正常的事情已经开始发生了,梅森解释道。.
This abnormal process (known as clonal hematopoiesis) has previously been found to be increasingly common as people age. As a result, researchers generally focus on the study of adults when investigating this phenomenon. 然而在这项研究中, 除了成年人, the researchers analyzed data from 400 children who were likely to be free from cancer. They found preliminary evidence that early cancer mutations could be detected in this age group.
在随附的评论中，将由 发现血癌 在“聚光灯下”栏目中, 芭芭拉·斯皮策, MD, 罗斯·莱文, MD, 纪念斯隆·凯特琳癌症中心, 写了, "This work demonstrates the first evidence that [clonal hematopoiesis] is observed in children outside of those with advanced malignancies.他们进一步评论道, "This expansion of the range of hematologic malignancy hotspot mutations goes beyond an improved understanding of the molecular repertoire of hematologic malignancies… More complete knowledge of relevant mutations may increase our detection of patients at highest risk for malignant transformation."
Finding a low-level mutation identical to one that is frequently present at cancer diagnoses could be alarming to a currently healthy person screened for such events. 但幸运的是, because cancer frequently requires multiple mutations to be present in a sizeable fraction of cells, most persons with a single low-level mutation are not likely to develop cancer for many years or decades—if they develop cancer at all. Large longitudinal studies are needed to identify the timeframe over which specific mutations or combinations of mutations accelerate progression to cancer.
The Utah researchers next hope to determine the stability of mutations identified at younger ages. This will give a preliminary glimpse into their potential to serve as biomarkers for those having greatest risk of cancer. 未来的干预研究将需要这样的识别.
"Our goal has been to help fill in gaps in the understanding of cancer development so that future prevention work can take place more quickly and effectively,梅森说。. "We are grateful to have been able to contribute a few puzzle pieces to that monumental effort."
这项工作是由儿科癌症项目资助的, 是由初级儿童医院基金会资助的, 山间医疗保健基金会, 和血液科 & 犹他大学儿科肿瘤学教授. 该研究的共同作者得到了美国国立卫生研究院的支持, including the National Cancer Institute and the National Institute of General Medical Sciences, 国防部国会指导的医学研究项目, 亨茨曼癌症基金会.
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查看全文评论 聚光灯下 at http://bloodcancerdiscov.aacrjournals.org/content/early/2021/02/26/2643-3230.BCD-21-0025
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关于犹他大学健康
大发娱乐 provides leading-edge and compassionate care for a referral area that encompasses 爱达荷州, 怀俄明, 蒙大拿, 以及内华达州的大部分地区. 是本地区卫生科学研究和教育的中心, U of U Health touts a $408 million research enterprise and trains the majority of Utah's physicians and health care providers at its Colleges of Health, 护理, 药学和牙科医学院. With more than 20,000 employees, the system includes 12 community clinics and five hospitals. U of U Health is recognized nationally as a transformative health care system and regionally a provider of world-class care.
关于犹他大学亨茨曼癌症研究所
亨茨曼癌症研究所 （HCI）在 犹他大学 犹他州的官方癌症中心是什么. The cancer campus includes a state-of-the-art cancer specialty hospital as well as two buildings dedicated to cancer research. HCI treats patients with all forms of cancer and is recognized among the best cancer hospitals in the country by U.S. 新闻与世界报道. 作为唯一的 国家癌症研究所(NCI)-指定的综合癌症中心 在西部山区, HCI服务于该国最大的地理区域, 从犹他州吸引病人, 内华达, 爱达荷州, 怀俄明, 和蒙大拿州. More genes for inherited cancers have been discovered at HCI than at any other cancer center in the world, 包括导致遗传性乳房的基因, 卵巢, 结肠, head, 还有颈部癌症, 还有黑色素瘤. HCI管理 犹他州人口数据库, 世界上最大的基因数据库, 拥有超过1100万人的家谱信息, 健康记录, 生命统计数据. HCI是由 乔恩·米. 和卡伦·亨茨曼.