对儿科白血病进行全外显子组测序，在来自印度东北部米佐部落人群的 AML 患者的 FLT-3 基因中发现一个新的缺失。
Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India.
机构信息
Department of Biotechnology, Mizoram University, Aizawl, Mizoram, 796004, India.
Department of Pathology, Mizoram State Cancer Institute, Zemabawk, Aizawl, Mizoram, 796017, India.
出版信息
BMC Genom Data. 2022 Mar 28;23(1):23. doi: 10.1186/s12863-022-01037-x.
BACKGROUND
Leukemia is the most common type of cancer in pediatrics. Genomic mutations contribute towards the molecular mechanism of disease progression and also helps in diagnosis and prognosis. This is the first scientific mutational exploration in whole exome of pediatric leukemia patients from a cancer prone endogamous Mizo tribal population, Northeast India.
RESULT
Three non-synonymous exonic variants in NOTCH1 (p.V1699E), MUTYH (p.G143E) and PTPN11 (p.S502P) were found to be pathogenic. A novel in-frame insertion-deletion within the juxtamembrane domain of FLT3 (p.Tyr589_Tyr591delinsTrpAlaGlyAsp) was also observed.
CONCLUSION
These unique variants could have a potential mutational significance and these could be candidate genes in elucidating the possibility of predisposition to cancers within the population. This study merits further investigation for its role in diagnosis and prognosis and also suggests the need for population wide screening to identify unique mutations that might play a key role towards precision medicine.
背景
白血病是儿科最常见的癌症类型。基因组突变有助于疾病进展的分子机制，并有助于诊断和预后。这是对来自印度东北部一个易患癌症的内婚米佐部落人群的儿科白血病患者进行全外显子组的首次科学突变探索。
结果
在 NOTCH1（p.V1699E）、MUTYH（p.G143E）和 PTPN11（p.S502P）中发现了三个非同义外显子突变，这些突变被认为是致病性的。还观察到 FLT3 （p.Tyr589_Tyr591delinsTrpAlaGlyAsp）的跨膜区中存在新的框内插入缺失。
结论
这些独特的变异可能具有潜在的突变意义，并且这些变异可能是阐明该人群中癌症易感性的候选基因。这项研究值得进一步研究其在诊断和预后中的作用，并表明需要进行全人群筛查，以确定可能在精准医学中发挥关键作用的独特突变。
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