Characterization and prognostic implication of 17 chromosome abnormalites in myelodysplastic syndrome Running title : Chromosome 17 abnormalities in MDS

The prognosis of chromosome 17 (chr17) abnormalities in patients with primary myelodysplastic syndrome (MDS) remains unclear. The revised International Prognostic Scoring System (IPSS-R) includes these abnormalities within the intermediate cytogenetic risk group. This study assessed the impact on overall survival (OS) and risk of acute myeloid leukemia transformation (AMLt) of chr17 abnormalities in 88 patients with primary MDS. We have compared this group with 1,346 patients with primary MDS and abnormal karyotype without chr17 involved. Chr17 abnormalities should be considered in the high-risk cytogenetic category. Monosomy 17 should be included within very-poor prognosis and i(17q), as nocomplex karyotype should be continued within the intermediate-risk group.

[1]  Y. Miyazaki,et al.  [Revised international prognostic scoring system (IPSS-R) for myelodysplastic syndromes]. , 2013, [Rinsho ketsueki] The Japanese journal of clinical hematology.

[2]  G. Garcia-Manero,et al.  Myeloid neoplasms with isolated isochromosome 17q represent a clinicopathologic entity associated with myelodysplastic/myeloproliferative features, a high risk of leukemic transformation, and wild‐type TP53 , 2012, Cancer.

[3]  A. Hagemeijer,et al.  Implementation of standardized international karyotype scoring practices is needed to provide uniform and systematic evaluation for patients with myelodysplastic syndrome using IPSS criteria: An International Working Group on MDS Cytogenetics Study. , 2010, Leukemia research.

[4]  M. McDevitt,et al.  TP53 Mutations in Myeloid Malignancies are either Homozygous or Hemizygous due to Copy Number-Neutral Loss of Heterozygosity or Deletion of 17p , 2009, Leukemia.

[5]  P. Nguyen,et al.  Myelodysplastic syndromes , 2009, Nature Reviews Disease Primers.

[6]  B. Woda,et al.  Cytogenetic abnormalities in a series of 1,029 patients with primary myelodysplastic syndromes: a report from the US with a focus on some undefined single chromosomal abnormalities. , 2008, Cancer.

[7]  Thomas H Müller,et al.  New insights into the prognostic impact of the karyotype in MDS and correlation with subtypes: evidence from a core dataset of 2124 patients. , 2007, Blood.

[8]  M. Cazzola,et al.  Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodysplastic syndromes. , 2007, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[9]  T. Haferlach,et al.  Definitions and standards in the diagnosis and treatment of the myelodysplastic syndromes: Consensus statements and report from a working conference. , 2007, Leukemia research.

[10]  Catherine Klersy,et al.  World Health Organization classification in combination with cytogenetic markers improves the prognostic stratification of patients with de novo primary myelodysplastic syndromes , 2007, British journal of haematology.

[11]  U. Germing,et al.  Prospective validation of the WHO proposals for the classification of myelodysplastic syndromes. , 2006, Haematologica.

[12]  J. Cigudosa,et al.  Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes. , 2005, Haematologica.

[13]  L. Nagarajan,et al.  Deletions of chromosome 5q13.3 and 17p loci cooperate in myeloid neoplasms. , 2000, Blood.

[14]  Cervera,et al.  Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes , 2000, British journal of haematology.

[15]  M. Slovak,et al.  Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group Study. , 2000, Blood.

[16]  C. Preudhomme,et al.  17p Deletion in acute myeloid leukemia and myelodysplastic syndrome. Analysis of breakpoints and deleted segments by fluorescence in situ. , 1998, Blood.

[17]  T Hamblin,et al.  International scoring system for evaluating prognosis in myelodysplastic syndromes. , 1997, Blood.

[18]  G. Flandrin,et al.  The 17p-syndrome: a distinct myelodysplastic syndrome entity? , 1997, Leukemia & lymphoma.

[19]  E. Wattel,et al.  Myelodysplastic syndromes and acute myeloid leukemia with 17p deletion. An entity characterized by specific dysgranulopoïesis and a high incidence of P53 mutations. , 1995, Leukemia.

[20]  R. Berger,et al.  Whole arm translocation t(17;18): a non-random abnormality of myeloid cell proliferation. , 1993, Leukemia.

[21]  A. Duhamel,et al.  Cytogenetic analysis has strong independent prognostic value in de novo myelodysplastic syndromes and can be incorporated in a new scoring system: a report on 408 cases. , 1993, Leukemia.

[22]  F. Solé,et al.  Isochromosome 17q as a sole anomaly: a distinct myelodysplastic syndrome entity? , 1993, Leukemia research.

[23]  S. Asano,et al.  Clinical implications of chromosomal abnormalities in 401 patients with myelodysplastic syndromes: a multicentric study in Japan. , 1993, Leukemia.

[24]  G. Janković,et al.  Two karyotypically unrelated clones with the t(5;17) and deletion of 5q in myelodysplastic syndrome. , 1992, Cancer genetics and cytogenetics.

[25]  P. Nowell,et al.  Therapy-related myelodysplastic syndrome and acute myeloid leukemia in children: correlation between chromosomal abnormalities and prior therapy. , 1991, Blood.

[26]  H. Preisler,et al.  Cytogenetic study of maturing granulocytes in bone marrow of patients with acute myelogenous leukemia. , 1990, Leukemia.

[27]  L. Stuppia,et al.  Karyotypic changes identified by HaeIII restriction endonuclease banding in a patient with M2 acute non‐lymphoblastic leukemia , 1990, Genes, chromosomes & cancer.

[28]  M. Sanz,et al.  Two regression models and a scoring system for predicting survival and planning treatment in myelodysplastic syndromes: a multivariate analysis of prognostic factors in 370 patients. , 1989, Blood.

[29]  Iscn International System for Human Cytogenetic Nomenclature , 1978 .