| Identification of genomic aberrations associated with disease transformation by means of high-resolution SNP array analysis in patients with myeloproliferative neoplasm. | |
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MedLine Citation:
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PMID: 21953568 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Myeloproliferative neoplasms (MPN) include polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). These disorders may undergo phenotypic shifts, and may specifically evolve into secondary myelofibrosis (MF) or acute myeloid leukemia (AML). We studied genomic changes associated with these transformations in 29 patients who had serial samples collected in different phases of disease. Genomic DNA from granulocytes, i.e., the myeloproliferative genome, was processed and hybridized to genome-wide human SNP 6.0 arrays. Most patients in chronic phase had chromosomal regions with uniparental disomy (UPD) and/or copy number changes. Disease progression to secondary MF or AML was associated with the acquisition of additional chromosomal aberrations in granulocytes (P = 0.002). A close relationship was observed between aberrations of chromosome 9p (UPD and/or gain) and progression from PV to post-PV MF (P = 0.002). The acquisition of one or more aberrations involving chromosome 5, 7, or 17p was specifically associated with progression to AML (OR 5.9, 95% CI 1.2-27.7, P = 0.006), and significantly affected overall survival (HR 18, 95% CI 1.9-164, P = 0.01). These observations indicate that disease progression from chronic-phase MPN to secondary MF or AML is associated with specific chromosomal aberrations that can be detected by means of high-resolution SNP array analysis of granulocyte DNA. |
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Authors:
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Elisa Rumi; Ashot Harutyunyan; Chiara Elena; Daniela Pietra; Thorsten Klampfl; Klaudia Bagienski; Tiina Berg; Ilaria Casetti; Cristiana Pascutto; Francesco Passamonti; Robert Kralovics; Mario Cazzola |
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Publication Detail:
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Type: Journal Article Date: 2011-09-22 |
Journal Detail:
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Title: American journal of hematology Volume: 86 ISSN: 1096-8652 ISO Abbreviation: Am. J. Hematol. Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-11-17 Completed Date: 2012-01-03 Revised Date: 2012-06-05 |
Medline Journal Info:
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Nlm Unique ID: 7610369 Medline TA: Am J Hematol Country: United States |
Other Details:
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Languages: eng Pagination: 974-9 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Department of Hematology Oncology, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy. elisarumi@hotmail.com. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Blast Crisis
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etiology,
genetics,
metabolism Cell Transformation, Neoplastic / genetics* Chromosome Aberrations* DNA / chemistry, metabolism Disease Progression Female Genome-Wide Association Study Granulocytes / metabolism Humans Italy Janus Kinase 2 / genetics, metabolism Leukemia, Myeloid / genetics, metabolism, physiopathology Male Mutation Myeloproliferative Disorders / genetics*, metabolism, pathology, physiopathology Oligonucleotide Array Sequence Analysis Polycythemia Vera / etiology, genetics, metabolism Polymorphism, Single Nucleotide* Primary Myelofibrosis / etiology, genetics, metabolism Receptors, Thrombopoietin / genetics, metabolism Survival Analysis Thrombocythemia, Essential / etiology, genetics, metabolism |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Thrombopoietin; 143641-95-6/MPL protein, human; 9007-49-2/DNA; EC 2.7.10.1/Janus Kinase 2; EC 2.7.10.2/JAK2 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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