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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 (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 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 Related Article in Blood Online Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted May 25, 2007 Accepted October 10, 2007 Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD and MDS-derived AML Lukasz P Gondek, Ramon Tiu, Christine L O'Keefe, Mikkael A Sekeres, Karl S Theil, and Jaroslaw P Maciejewski* Experimental Hematology and Hematopoiesis Section, Cleveland Clinic, Cleveland, OH, United States Department of Hematologic Oncology and Blood Disorders, Cleveland Clinic, Cleveland, OH, United States Taussig Cancer Center and Department of Clinical Pathology, Cleveland Clinic, Cleveland, OH, United States * Corresponding author; email: maciejj{at}ccf.org. Using metaphase cytogenetics (MC), chromosomal abnormalities are found only in a proportion of patients with 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 SNP arrays (SNP-A) to study chromosomal lesions in samples from 174 patients (94 MDS, 33 secondary AML and 47 MDS/MPD) and 76 controls. Using SNP-A, aberrations were found in around 3/4 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: R. V. Tiu, L. P. Gondek, C. L. O'Keefe, J. Huh, M. A. Sekeres, P. Elson, M. A. McDevitt, X. F. Wang, M. J. Levis, J. E. Karp, et al. New Lesions Detected by Single Nucleotide Polymorphism Array-Based Chromosomal Analysis Have Important Clinical Impact in Acute Myeloid Leukemia J. Clin. Oncol., November 1, 2009; 27(31): 5219 - 5226. [Abstract] [Full Text] [PDF] F. P.G. Silva, I. Almeida, B. Morolli, G. Brouwer-Mandema, H. Wessels, R. Vossen, H. Vrieling, E. W.A. Marijt, P. J.M. Valk, H. C. Kluin-Nelemans, et al. Genome wide molecular analysis of minimally differentiated acute myeloid leukemia Haematologica, November 1, 2009; 94(11): 1546 - 1554. [Abstract] [Full Text] [PDF] O. Kosmider, V. Gelsi-Boyer, M. Cheok, S. Grabar, V. Della-Valle, F. Picard, F. Viguie, B. Quesnel, O. Beyne-Rauzy, E. Solary, et al. TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs) Blood, October 8, 2009; 114(15): 3285 - 3291. [Abstract] [Full Text] [PDF] M. A. Sekeres and D. P. Steensma Defining prior therapy in myelodysplastic syndromes and criteria for relapsed and refractory disease: implications for clinical trial design and enrollment Blood, September 24, 2009; 114(13): 2575 - 2580. [Abstract] [Full Text] [PDF] T. Akagi, L.-Y. Shih, S. Ogawa, J. Gerss, S. R. Moore, R. Schreck, N. Kawamata, D.-C. Liang, M. Sanada, Y. Nannya, et al. Single nucleotide polymorphism genomic arrays analysis of t(8;21) acute myeloid leukemia cells Haematologica, September 1, 2009; 94(9): 1301 - 1306. [Abstract] [Full Text] [PDF] A. M. Mohamedali, A. E. Smith, J. Gaken, N. C. Lea, S. A. Mian, N. B. Westwood, C. Strupp, N. Gattermann, U. Germing, and G. J. Mufti Novel TET2 Mutations Associated With UPD4q24 in Myelodysplastic Syndrome J. Clin. Oncol., August 20, 2009; 27(24): 4002 - 4006. [Abstract] [Full Text] [PDF] I. Radtke, C. G. Mullighan, M. Ishii, X. Su, J. Cheng, J. Ma, R. Ganti, Z. Cai, S. Goorha, S. B. Pounds, et al. Genomic analysis reveals few genetic alterations in pediatric acute myeloid leukemia PNAS, August 4, 2009; 106(31): 12944 - 12949. [Abstract] [Full Text] [PDF] A. Orazi and M. B. Czader Myelodysplastic Syndromes Am J Clin Pathol, August 1, 2009; 132(2): 290 - 305. [Abstract] [Full Text] [PDF] 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] D. T. Starczynowski, S. Vercauteren, A. Telenius, S. Sung, K. Tohyama, A. Brooks-Wilson, J. J. Spinelli, C. J. Eaves, A. C. Eaves, D. E. Horsman, et al. High-resolution whole genome tiling path array CGH analysis of CD34+ cells from patients with low-risk myelodysplastic syndromes reveals cryptic copy number alterations and predicts overall and leukemia-free survival Blood, October 15, 2008; 112(8): 3412 - 3424. [Abstract] [Full Text] [PDF] J. P. Maciejewski and G. J. Mufti Whole genome scanning as a cytogenetic tool in hematologic malignancies Blood, August 15, 2008; 112(4): 965 - 974. [Abstract] [Full Text] [PDF] S. D. Nimer MDS: A Stem Cell Disorder--But What Exactly Is Wrong with the Primitive Hematopoietic Cells in This Disease? Hematology, January 1, 2008; 2008(1): 43 - 51. [Abstract] [Full Text] [PDF]

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