DOI: 10.1158/0008-5472.375.65.2. Genome-Wide Single Nucleotide Polymorphism Analysis Reveals Frequent Partial Uniparental Disomy Due to Somatic Recombination in Acute Myeloid Leukemias

Genome-Wide Single Nucleotide Polymorphism Analysis Reveals Frequent Partial Uniparental Disomy Due to Somatic Recombination in Acute Myeloid Leukemias

10.1158/0008-5472.375.65.2

Crossref journal-article

American Association for Cancer Research (AACR)

Cancer Research (1086)

Abstract

Abstract Genome-wide analysis of single nucleotide polymorphisms in 64 acute myeloid leukemias has revealed that ∼20% exhibited large regions of homozygosity that could not be accounted for by visible chromosomal abnormalities in the karyotype. Further analysis confirmed that these patterns were due to partial uniparental disomy (UPD). Remission bone marrow was available from five patients showing UPD in their leukemias, and in all cases the homozygosity was found to be restricted to the leukemic clone. Two examples of UPD11p were shown to be of different parental origin as indicated by the methylation pattern of the H19 gene. Furthermore, a previously identified homozygous mutation in the CEBPA gene coincided with a large-scale UPD on chromosome 19. These cryptic chromosomal abnormalities, which seem to be nonrandom, have the characteristics of somatic recombination events and may define an important new subclass of leukemia.

Bibliography

Raghavan, M., Lillington, D. M., Skoulakis, S., Debernardi, S., Chaplin, T., Foot, N. J., Lister, T. A., & Young, B. D. (2005). Genome-Wide Single Nucleotide Polymorphism Analysis Reveals Frequent Partial Uniparental Disomy Due to Somatic Recombination in Acute Myeloid Leukemias. Cancer Research, 65(2), 375â378.

Authors 8

Manoj Raghavan (first)
Debra M. Lillington (additional)
Spyros Skoulakis (additional)
Silvana Debernardi (additional)
Tracy Chaplin (additional)
Nicola J. Foot (additional)
T. Andrew Lister (additional)
Bryan D. Young (additional)

References 20 Referenced 216

Dates

Type	When
Created	3 years, 2 months ago (June 16, 2022, 6:07 p.m.)
Deposited	3 years, 2 months ago (June 16, 2022, 6:08 p.m.)
Indexed	3 months ago (May 26, 2025, 1:25 a.m.)
Issued	20 years, 7 months ago (Jan. 15, 2005)
Published	20 years, 7 months ago (Jan. 15, 2005)
Published Online	20 years, 6 months ago (Feb. 3, 2005)
Published Print	20 years, 7 months ago (Jan. 15, 2005)

Funders 0

None

BibTeX

@article{Raghavan_2005, title={Genome-Wide Single Nucleotide Polymorphism Analysis Reveals Frequent Partial Uniparental Disomy Due to Somatic Recombination in Acute Myeloid Leukemias}, volume={65}, ISSN={1538-7445}, url={http://dx.doi.org/10.1158/0008-5472.375.65.2}, DOI={10.1158/0008-5472.375.65.2}, number={2}, journal={Cancer Research}, publisher={American Association for Cancer Research (AACR)}, author={Raghavan, Manoj and Lillington, Debra M. and Skoulakis, Spyros and Debernardi, Silvana and Chaplin, Tracy and Foot, Nicola J. and Lister, T. Andrew and Young, Bryan D.}, year={2005}, month=jan, pages={375–378} }

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