Backtracking leukemia to birth: Identification of clonotypic gene fusion sequences in neonatal blood spots

• DOI: 10.1073/pnas.94.25.13950
• Publication Date: 2002-07-26T14:31:39Z
• Authors: Karin B. Gale; Anthony M. Ford; Reinald Repp; Arndt Borkhardt; Claudia Keller; Osborn B. Eden; Mel F. Greaves
• Keywords: Childhood leukemia

Epidemiological evidence has suggested that some pediatric leukemias may be initiated in utero and, for pairs of identical twins with concordant leukemia, this possibility been strongly endorsed by molecular studies clonality. Direct a prenatal origin can only derived prospective or retrospective detection leukemia-specific abnormalities fetal newborn samples. We report PCR-based method developed to scrutinize neonatal blood spots (Guthrie cards) the presence numerically infrequent leukemic cells at birth individuals who subsequently leukemia. demonstrate unique clonotypic MLL-AF4 genomic fusion sequences are present and detectable from were diagnosed acute lymphoblastic leukemia ages 5 months 2 years therefore, have arisen during hematopoiesis . This result provides unequivocal initiation young patients. The should applicable other genes children common subtypes will value attempts unravel natural history etiology major subtype cancer.