95 年后，是时候消灭 JMML 了。
After 95 years, it's time to eRASe JMML.
机构信息
Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, F-75015 Paris, France.
Université de Paris, Imagine institute, laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM UMR 1163, F-75015 Paris, France.
出版信息
Blood Rev. 2020 Sep;43:100652. doi: 10.1016/j.blre.2020.100652. Epub 2020 Jan 16.
Juvenile myelomonocytic leukaemia (JMML) is a rare clonal disorder of early childhood. Constitutive activation of the RAS pathway is the initial event in JMML. Around 90% of patients diagnosed with JMML carry a mutation in the PTPN11, NRAS, KRAS, NF1 or CBL genes. It has been demonstrated that after this first genetic event, an additional somatic mutation or epigenetic modification is involved in disease progression. The available genetic and clinical data have enabled researchers to establish relationships between JMML and several clinical conditions, including Noonan syndrome, Ras-associated lymphoproliferative disease, and Moyamoya disease. Despite scientific progress and the development of more effective treatments, JMML is still a deadly disease: the 5-year survival rate is ~50%. Here, we report on recent research having led to a better understanding of the genetic and molecular mechanisms involved in JMML.
幼年髓单核细胞白血病（JMML）是一种罕见的儿童期克隆性疾病。RAS 通路的组成性激活是 JMML 的初始事件。大约 90%的诊断为 JMML 的患者携带 PTPN11、NRAS、KRAS、NF1 或 CBL 基因的突变。已经证明，在这第一个遗传事件之后，疾病进展涉及另外一个体细胞突变或表观遗传修饰。现有的遗传和临床数据使研究人员能够在 JMML 和几种临床情况之间建立关系，包括 Noonan 综合征、Ras 相关淋巴组织增生性疾病和 moyamoya 病。尽管取得了科学进展和开发了更有效的治疗方法，但 JMML 仍然是一种致命的疾病：5 年生存率约为 50%。在这里，我们报告了最近的研究进展，这些研究使我们更好地了解了 JMML 相关的遗传和分子机制。
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