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Kawamata, N. et al.

Norihiko Kawamata, Seishi Ogawa, Martin Zimmermann, Motohiro Kato, Masashi Sanada, Kari Hemminki, Go Yamatomo, Yasuhito Nannya, Rolf Koehler, Thomas Flohr, Carl W. Miller, Jochen Harbott, Wolf-Dieter Ludwig, Martin Stanulla, Martin Schrappe, Claus R. Bartram, H. Phillip Koeffler,

Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray.

Pediatric acute lymphoblastic leukemia (ALL) is a malignant disease resulting from accumulation of genetic alterations. A robust technology, single nucleotide polymorphism oligonucleotide genomic microarray (SNP-chip) in concert with bioinformatics offers the opportunity to discover the genetic lesions associated with ALL. We examined 399 pediatric ALL samples and their matched remission marrows at 50,000/250,000 SNP sites using an SNP-chip platform. Correlations between genetic abnormalities and clinical features were examined. Three common genetic alterations were found: deletion of ETV6, deletion of p16INK4A, and hyperdiploidy, as well as a number of novel recurrent genetic alterations. Uniparental disomy (UPD) was a frequent event, especially affecting chromosome 9. A cohort of children with hyperdiploid ALL without gain of chromosomes 17 and 18 had a poor prognosis. Molecular allelokaryotyping is a robust tool to define small genetic abnormalities including UPD, which is usually overlooked by standard methods. This technique was able to detect subgroups with a poor prognosis based on their genetic status.[1]

References

Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray. Kawamata, N., Ogawa, S., Zimmermann, M., Kato, M., Sanada, M., Hemminki, K., Yamatomo, G., Nannya, Y., Koehler, R., Flohr, T., Miller, C.W., Harbott, J., Ludwig, W.D., Stanulla, M., Schrappe, M., Bartram, C.R., Koeffler, H.P. Blood (2008) [Pubmed]

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