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Blood, 1 February 2008, Vol. 111, No. 3, pp. 1534-1542. Prepublished online as a Blood First Edition Paper on October 22, 2007; DOI 10.1182/blood-2007-05-092304. This Article Full Text Full Text (PDF) Supplemental Table and Figure All Versions of this Article: blood-2007-05-092304v1 111/3/1534    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Gondek, L. P. Articles by Maciejewski, J. P. Search for Related Content PubMed PubMed Citation Articles by Gondek, L. P. Articles by Maciejewski, J. P. Related Collections Neoplasia Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML Lukasz P. Gondek1, Ramon Tiu1, Christine L. O'Keefe1, Mikkael A. Sekeres2, Karl S. Theil3, and Jaroslaw P. Maciejewski1,2 1 Experimental Hematology and Hematopoiesis Section; 2 Department of Hematologic Oncology and Blood Disorders, Taussig Cancer Center, and 3 Department of Clinical Pathology, Cleveland Clinic, OH Using metaphase cytogenetics (MC), chromosomal abnormalities are found in only a proportion of patients with myelodysplastic syndrome (MDS). We hypothesized that with new precise methods more cryptic karyotypic lesions can be uncovered that may show important clinical implications. We have applied 250K single nucleotide polymorphisms (SNP) arrays (SNP-A) to study chromosomal lesions in samples from 174 patients (94 MDS, 33 secondary acute myeloid leukemia [sAML], and 47 myelodysplastic/myeloproliferative disease [MDS/MPD]) and 76 controls. Using SNP-A, aberrations were found in around three-fourths of MDS, MDS/MPD, and sAML (vs 59%, 37%, 53% by MC; in 8% of patients MC was unsuccessful). Previously unrecognized lesions were detected in patients with normal MC and in those with known lesions. Moreover, segmental uniparental disomy (UPD) was found in 20% of MDS, 23% of sAML, and 35% of MDS/MPD patients, a lesion resulting in copy-neutral loss of heterozygosity undetectable by MC. The potential clinical significance of abnormalities detected by SNP-A, but not seen on MC, was demonstrated by their impact on overall survival. UPD involving chromosomes frequently affected by deletions may have prognostic implications similar to the deletions visible by MC. SNP-A–based karyotyping shows superior resolution for chromosomal defects, including UPD. This technique further complements MC to improve clinical prognosis and targeted therapies. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? Related Article in Blood Online: Normal no more Fernando Suarez-Saiz and Mark D. Minden Blood 2008 111: 977-978. [Full Text] [PDF] This article has been cited by other articles: K. Hanlon, S. Ellard, C. E. Rudin, S. Thorne, T. Davies, and L. W. Harries Evaluation of 13q14 Status in Patients with Chronic Lymphocytic Leukemia Using Single Nucleotide Polymorphism-Based Techniques J. Mol. Diagn., July 1, 2009; 11(4): 298 - 305. [Abstract] [Full Text] [PDF] S. Meshinchi and F. R. Appelbaum Structural and Functional Alterations of FLT3 in Acute Myeloid Leukemia Clin. Cancer Res., July 1, 2009; 15(13): 4263 - 4269. [Abstract] [Full Text] [PDF] A. M. Jankowska, H. Szpurka, R. V. Tiu, H. Makishima, M. Afable, J. Huh, C. L. O'Keefe, R. Ganetzky, M. A. McDevitt, and J. P. Maciejewski Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms Blood, June 18, 2009; 113(25): 6403 - 6410. [Abstract] [Full Text] [PDF] F. H. Grand, C. E. Hidalgo-Curtis, T. Ernst, K. Zoi, C. Zoi, C. McGuire, S. Kreil, A. Jones, J. Score, G. Metzgeroth, et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms Blood, June 11, 2009; 113(24): 6182 - 6192. [Abstract] [Full Text] [PDF] F. Delhommeau, S. Dupont, V. D. Valle, C. James, S. Trannoy, A. Masse, O. Kosmider, J.-P. Le Couedic, F. Robert, A. Alberdi, et al. Mutation in TET2 in Myeloid Cancers N. Engl. J. Med., May 28, 2009; 360(22): 2289 - 2301. [Abstract] [Full Text] [PDF] D. O'Shea, C. O'Riain, M. Gupta, R. Waters, Y. Yang, D. Wrench, J. Gribben, A. Rosenwald, G. Ott, L. M. Rimsza, et al. Regions of acquired uniparental disomy at diagnosis of follicular lymphoma are associated with both overall survival and risk of transformation Blood, March 5, 2009; 113(10): 2298 - 2301. [Abstract] [Full Text] [PDF] M. Y. Follo, C. Finelli, C. Clissa, S. Mongiorgi, C. Bosi, G. Martinelli, M. Baccarani, L. Manzoli, A. M. Martelli, and L. Cocco Phosphoinositide-Phospholipase C {beta}1 Mono-Allelic Deletion Is Associated With Myelodysplastic Syndromes Evolution Into Acute Myeloid Leukemia J. Clin. Oncol., February 10, 2009; 27(5): 782 - 790. [Abstract] [Full Text] [PDF] Y. Jiang, A. Dunbar, L. P. Gondek, S. Mohan, M. Rataul, C. O'Keefe, M. Sekeres, Y. Saunthararajah, and J. P. Maciejewski Aberrant DNA methylation is a dominant mechanism in MDS progression to AML Blood, February 5, 2009; 113(6): 1315 - 1325. [Abstract] [Full Text] [PDF] A. J. Dunbar, L. P. Gondek, C. L. O'Keefe, H. Makishima, M. S. Rataul, H. Szpurka, M. A. Sekeres, X. F. Wang, M. A. McDevitt, and J. P. Maciejewski 250K Single Nucleotide Polymorphism Array Karyotyping Identifies Acquired Uniparental Disomy and Homozygous Mutations, Including Novel Missense Substitutions of c-Cbl, in Myeloid Malignancies Cancer Res., December 15, 2008; 68(24): 10349 - 10357. [Abstract] [Full Text] [PDF]

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