Identification of genetic defect coupled with the susceptibility to childhood leukemia

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Factors affected the susceptibility of pediatric malignant diseases may be innate phenomena. To explore this possibility, we tried a unique approach to analyze genetical and biological feature of lymphoblast cells established from the patients with childhood leukemia. Cells from the patients displayed marked chromosomal instability ; changes in ploidy, translocations and breakages. We re-sequenced entire coding regions in the ATM, CHK2, and TP53 genes in patients and healthy samples. The mutations in them were found only in the patients. Expression profiling shows abnormal expression of apoptosis and repair related genes. The result suggests germ-line defect(s) in repair or apoptosis pathways leads chromosomal aberrations and resulted in malignant transformation.