Leukemia is the most common childhood malignancy and studies had been carried out with promising revelations in its diagnosis and prognosis. However, majority of the studies are focused on nuclear alterations, while mitochondrial mutations are not well studied. Although there are studies of mitochondrial mutations in the adult leukemias, it does not represent the same for childhood malignancy. This is the first scientific report on the mtDNA mutational pattern of pediatric leukemic cases from a endogamous tribal population in Northeast India. ATP6 involved in the Complex V was found to be more altered with respect to the Non-synonymous variants. mtDNA variations in the non-coding region (D-Loop – g.152 T>C) and in the coding region (MT-ND2, g.4824 A>G, p.T119A) showed a maternal inheritance which could reveal a genetic predisposition with lower penetrance. D-Loop variant (g.152 T>C) could be a diagnostic marker in accordance with previous report but is in contrast to pertaining only in AML – M3 subtype rather was found across in myeloid malignancies.

白血病是儿童中最常见的恶性肿瘤，已经进行了一些研究，对它的诊断和预后具有启示性。但是，大多数研究集中在核变异上，而线粒体突变却没有得到很好的研究。尽管对成人白血病中线粒体突变进行了研究，但对于儿童恶性肿瘤并不相同。这是关于印度东北部内混血部落儿童小儿白血病病例mtDNA突变模式的第一份科学报告。ATP6发现与复合物V有关的变化与非同义变体有关。非编码区（D-Loop – g.152 T> C）和编码区（MT-ND2，g.4824 A> G，p.T119A）中的mtDNA变异显示出母系遗传，这可能揭示了遗传倾向性较低的外在。D-Loop变体（g.152 T> C）可能是先前报道的诊断标记，但与仅属于AML – M3亚型相反，而是在髓系恶性肿瘤中发现。