Abstract
We analyzed data of 76 consecutive patients with myelodysplastic syndrome (MDS) and isolated del(5q) (n=66) or del(5q) plus one additional chromosomal abnormality (n=10) included in our MDS database over the last 26 years. The median age of our patient population was 66.8 years. The male to female ratio was 1:1.7. In all, 14 patients (18%) had advanced MDS with an increased medullary blast count. A total of 17 patients (22%) had significant dysplasia in the nonmegakaryocytic cell lines. Nearly half of the study population showed erythroid hypoplasia in the bone marrow. The projected median survival of patients with isolated del(5q) is 146 months for a median follow-up of 67 months. Patients with an increased medullary blast count and those with an additional chromosomal abnormality have a significantly shorter overall survival (24 and 45 months, respectively) than patients with isolated del(5q). We did not find survival differences for different cytogenetic breakpoints, nor did the amount of dysplasia have an impact on survival in our population. In total, 29 patients have died. Deaths occurred primarily due to transformation into acute leukemia, infection, or cardiac failure. Our data support the current definition of a separate entity of MDS with del(5q) that has been suggested by the World Health Organization.
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References
Aul C, Bowen DT, Yoshida Y . Pathogenesis, etiology and epidemiology of myelodysplastic syndromes. Haematologica 1998; 83: 71–86.
Heim S, Mitelman F . Chromosome abnormalities in the myelodysplastic syndromes. Clin Haematol 1986; 15: 281–319.
Van den Berghe H, Cassiman JJ, David G, Fryns JP, Michaux JL, Sokal G . Distinct haematological disorder with deletion of the long arm of no. 5 chromosome. Nature 1974; 251: 437–438.
Greenberg P, Cox C, Le Beau MM, Fenaux P, Morel P, Sanz G et al. International Scoring System for evaluating prognosis in myelodysplastic syndromes. Blood 1997; 89: 2079–2088.
Boultwood J, Fidler C, Strickson AJ, Watkins F, Kostrzewa M, Jaju RJ et al. Transcription mapping of the 5q-syndrome critical region: Cloning of two novel genes and sequencing, expression, and mapping of a further six novel c-DNAs. Genomics 2000; 66: 26–34.
Jaffe ES, Harris NL, Stein H, Vardiman JW . World Health Organization Classification of Tumours. Pathology and Genetics. Tumours of Haematopoetic and Lymphoid Tissues. Lyon: IARC Press, 2001.
Boultwood J, Lewis S, Wainscoat JS . The 5q-syndrome. Blood 1994; 84: 3253–3260.
Bennett JM, Catovsky D, Daniel M-T, Flandrin G, Galton DAG, Gralnick HR et al. Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 1982; 51: 189–199.
Aul C, Gatterman N, Heyll A, Germing U, Derigs G, Schneider W . Primary myelodysplastic syndromes: analysis of prognostic factors in 235 patients and proposals for an improved scoring system. Leukemia 1992; 6: 52–59.
Pedersen B, Jensen M . Clinical and prognostic implications of chromosome 5q deletions: 96 high resolution studied patients. Leukemia 1991; 5: 566–573.
Larripa I, Acevedo S, Palau Nagore MV, Bengio R, Mondini N, Slavutsky I . Leukemic transformation in patients with 5q- and additional abnormalities. Haematologica 1991; 76: 363–367.
Dewald GW, Davis MP, Pierre RV, O'Fallon JR, Hoagland HC . Clinical characteristics and prognosis of 50 patients with a myeloproliferative syndrome and deletion of part of the long arm of chromosome 5. Blood 1985; 66: 189–197.
Germing U, Gattermann N, Strupp C, Aivado M, Aul C . Validation of the WHO proposals for a new classification of primary myelodysplastic syndromes: a retrospective analysis of 1600 patients. Leukemia Res 2000; 24: 983–992.
Mathew P, Tefferi A, Dewals GW, Goldberg J, Hoagland HC, Noel P . The 5q-syndrome: a single institution study of 43 consecutive patients. Blood 1993; 81: 1040–1045.
Cermak J, Michalova K, Brezinova J, Zemanova Z . A prognostic impact of separation of refractory cytopenia with multilineage dysplasia and 5q-syndrome from refractory anemia in primary myelodysplastic syndrome. Leukemia Res 2003; 27: 221–229.
Statistisches Bundesamt. Statistisches Jahrbuch 2002 für die Bundesrepublik Deutschland. Berlin: Metzler-Pöschel Verlag, 2002.
Pedersen B . 5q-: does longer survival of female patients explain the preponderance. Anticancer Res 1997; 17: 3281–3285.
Juneja HS, Jodhani M, Gardner FH, Trevarthen D, Schottstedt M . Low-dose ara-c consistently induces hematologic responses in the clinical 5q-syndrome. Am J Hematol 1994; 46: 338–342.
Aul C, Runde V, Gattermann N . All-trans retinoic acid in patients with myelodysplastic syndromes: results of a pilot study. Blood 1993; 82: 2967–2974.
Acknowledgements
This work was supported by a grant of the German Bundesministerium für Bildung und Forschung, Kompetenznetz ‘Akute und chronische Leukämien’. We thank Mr Peter Petersen for his assistance in preparing the manuscript.
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Giagounidis, A., Germing, U., Haase, S. et al. Clinical, morphological, cytogenetic, and prognostic features of patients with myelodysplastic syndromes and del(5q) including band q31. Leukemia 18, 113–119 (2004). https://doi.org/10.1038/sj.leu.2403189
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DOI: https://doi.org/10.1038/sj.leu.2403189
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