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Original Articles: Clinical

Clinicopathologic evaluation of cytopenic patients with isolated trisomy 8: a detailed comparison between idiopathic cytopenia of unknown significance and low-grade myelodysplastic syndrome

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Pages 569-577 | Received 13 Feb 2016, Accepted 11 Jun 2016, Published online: 07 Jul 2016

References

  • Brunning RDOA, Germing U, Le Beau MM, et al. Myelodysplastic syndromes. In: Swedrlow SHCE, Harris NL, Jaffe ES, et al. editors. WHO classification of tumors of haematopoietic and lymphoid tissues. Lyon, France: IARC; 2008. p. 87–107.
  • Tefferi A, Vardiman JW. Myelodysplastic syndromes. N Engl J Med. 2009;361:1872–1885.
  • Troy JD, Atallah E, Geyer JT, et al. Myelodysplastic syndromes in the United States: an update for clinicians. Ann Med. 2014;46:283–289.
  • Sole F, Luno E, Sanzo C, et al. Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes. Haematologica. 2005;90:1168–1178.
  • Heaney ML, Golde DW. Myelodysplasia. N Engl J Med. 1999;340:1649–1660.
  • Mufti GJ. Chromosomal deletions in the myelodysplastic syndrome. Leuk Res. 1992;16:35–41.
  • Tefferi A, Mesa RA, Schroeder G, et al. Cytogenetic findings and their clinical relevance in myelofibrosis with myeloid metaplasia. Br J Haematol. 2001;113:763–771.
  • Lowenberg B, Downing JR, Burnett A. Acute myeloid leukemia. N Engl J Med. 1999;341:1051–1062.
  • Dewald GW, Wright PI. Chromosome abnormalities in the myeloproliferative disorders. Semin Oncol. 1995;22:341–354.
  • Diez-Martin JL, Graham DL, Petitt RM, et al. Chromosome studies in 104 patients with polycythemia vera. Mayo Clin Proc. 1991;66:287–299.
  • Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89:2079–2088.
  • Sole F, Espinet B, Sanz GF, et al. Incidence, characterization and prognostic significance of chromosomal abnormalities in 640 patients with primary myelodysplastic syndromes. Grupo Cooperativo Espanol de Citogenetica Hematologica. Br J Haematol. 2000;108:346–356.
  • Bernasconi P, Klersy C, Boni M, et al. World Health Organization classification in combination with cytogenetic markers improves the prognostic stratification of patients with de novo primary myelodysplastic syndromes. Br J Haematol. 2007;137:193–205.
  • Malcovati L, Germing U, Kuendgen A, et al. Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodysplastic syndromes. J Clin Oncol. 2007;25:3503–3510.
  • Greenberg PL, Tuechler H, Schanz J, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120:2454–2465.
  • Schanz J, Tuchler H, Sole F, et al. New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes (MDS) and oligoblastic acute myeloid leukemia after MDS derived from an international database merge. J Clin Oncol. 2012;30:820–829.
  • Valent P, Horny HP, Bennett JM, et al. Definitions and standards in the diagnosis and treatment of the myelodysplastic syndromes: consensus statements and report from a working conference. Leuk Res. 2007;31:727–736.
  • Valent P, Horny HP. Minimal diagnostic criteria for myelodysplastic syndromes and separation from ICUS and IDUS: update and open questions. Eur J Clin Invest. 2009;39:548–553.
  • Platzbecker U, Santini V, Mufti GJ, et al. Update on developments in the diagnosis and prognostic evaluation of patients with myelodysplastic syndromes (MDS): consensus statements and report from an expert workshop. Leuk Res. 2012;36:264–270.
  • Della Porta MG, Travaglino E, Boveri E, et al. Minimal morphological criteria for defining bone marrow dysplasia: a basis for clinical implementation of WHO classification of myelodysplastic syndromes. Leukemia. 2015;29:66–75.
  • Steensma DP. Dysplasia has A differential diagnosis: distinguishing genuine myelodysplastic syndromes (MDS) from mimics, imitators, copycats and impostors. Curr Hematol Malig Rep. 2012;7:310–320.
  • Garcia-Manero G. Myelodysplastic syndromes: 2014 update on diagnosis, risk-stratification, and management. Am J Hematol. 2014;89:97–108.
  • Paulsson K, Johansson B. Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes. Pathol Biol (Paris). 2007;55:37–48.
  • Huret J. +8 or trisomy 8. Atlas Genet Cytogenet Oncol Haematol. 2009;13:75–77.
  • Saumell S, Florensa L, Luno E, et al. Prognostic value of trisomy 8 as a single anomaly and the influence of additional cytogenetic aberrations in primary myelodysplastic syndromes. Br J Haematol. 2012;159:311–321.
  • Lepretre S, Buchonnet G, Stamatoullas A, et al. Chromosome abnormalities in peripheral T-cell lymphoma. Cancer Genet Cytogenet. 2000;117:71–79.
  • Ferti AD, Panani AD, Stamouli MI, et al. M-FISH in gastric lymphoma. Cancer Genet Cytogenet 2004;155:63–66.
  • Jonveaux P, Daniel MT, Martel V, et al. Isochromosome 7q and trisomy 8 are consistent primary, non-random chromosomal abnormalities associated with hepatosplenic T gamma/delta lymphoma. Leukemia 1996;10:1453–1455.
  • Kadam PR, Advani SH, Bhisey AN. Cytogenetic studies in Hodgkin’s disease. Indian J Med Res 1990;92:307–314.
  • Cerretini R, Noriega MF, Narbaitz M, et al. New chromosome abnormalities and lack of BCL-6 gene rearrangements in Argentinean diffuse large B-cell lymphomas. Eur J Haematol. 2006;76:284–293.
  • Jaffe ES HN, Stein H, Vardiman JW (editors). World Health Organization classification of tumours: pathology and genetics of tumours of haematopoietic and lymphoid tissues. Lyon, France: IARC Press; 2001.
  • Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pieri SA, and Stein H (editors) World Health Organization classification of tumors of haematopoietic and lymphoid tissues. Lyon, France: IARC; 2008.
  • ISCN (2009): An international system for human cytogenetic nomenclature. Shaffer LGSM, Campbell LJ, editors. Basel, Switzerland: S Karger; 2009.
  • Hussein K, Van Dyke DL, Tefferi A. Conventional cytogenetics in myelofibrosis: literature review and discussion. Eur J Haematol. 2009;82:329–338.
  • Wiktor A, Rybicki BA, Piao ZS, et al. Clinical significance of Y chromosome loss in hematologic disease. Genes Chromosomes Cancer. 2000;27:11–16.
  • Ma Y, Wang X, Xu X, et al. Prognostic value of trisomy 8 in primary myelodysplastic syndrome. Intern Med J. 2010;40:697–703.
  • Soupir CP, Vergilio JA, Kelly E, et al. Identification of del(20q) in a subset of patients diagnosed with idiopathic thrombocytopenic purpura. Br J Haematol. 2009;144:800–802.
  • Pavlu J, Emmerson J, Marks AJ, et al. Idiopathic cytopenia of undetermined significance and the minimal criteria for a diagnosis of myelodysplastic syndrome. Leuk Lymphoma. 2011;52:515–516.
  • Saitoh K, Miura I, Takahashi N, et al. Fluorescence in situ hybridization of progenitor cells obtained by fluorescence-activated cell sorting for the detection of cells affected by chromosome abnormality trisomy 8 in patients with myelodysplastic syndromes. Blood. 1998;92:2886–2892.
  • Miura I, Takahashi N, Kobayashi Y, et al. Molecular cytogenetics of stem cells: target cells of chromosome aberrations as revealed by the application of fluorescence in situ hybridization to fluorescence-activated cell sorting. Int J Hematol. 2000;72:310–317.
  • Abruzzese E, Buss D, Rainer R, et al. Progression of a myelodysplastic syndrome to pre-B acute lymphoblastic leukemia: a case report and cell lineage study. Ann Hematol. 1996;73:35–38.
  • Mishima A, Aoba M, Yamaji S, et al. Progression of a myelodysplastic syndrome with trisomy 8 to acute lymphoblastic leukemia. Am J Hematol. 1998;58:342
  • Kimura S, Kuroda J, Akaogi T, et al. Trisomy 8 involved in myelodysplastic syndromes as a risk factor for intestinal ulcers and thrombosis-Behçet’s syndrome. Leuk Lymphoma. 2001;42:115–121.
  • Chen HC, Chiu YM. Large-vessel thrombosis in intestinal Behçet’s disease complicated with myelodysplastic syndrome and trisomy 8. World J Gastroenterol. 2012;18:1137–1140.
  • Ripperger T, Tauscher M, Praulich I, et al. Constitutional trisomy 8p11.21-q11.21 mosaicism: a germline alteration predisposing to myeloid leukaemia. Br J Haematol. 2011;155:209–217.
  • Baidas S, Chen TJ, Kolev V, et al. Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities. Am J Med Genet. 2004;124A:383–387.
  • Becker H, Maharry K, Mrozek K, et al. Prognostic gene mutations and distinct gene- and microRNA-expression signatures in acute myeloid leukemia with a sole trisomy 8. Leukemia. 2014;28:1754–1758.
  • Kwok B, Hall JM, Witte JS, et al. MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance. Blood. 2015;126:2355–2361.

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