Cytogenetic profile in patients with primary myelodysplastic syndrome

Gritsaev S.V.; Martynkevich I.S.; Petrova E.V.; Martynenko L.S.; Ivanova M.P.; Aksenova V.Iu.; Tsybakova N.Iu.; Potikhonova N.A.; Abdulkadyrov K.M.

doi:https://doi.org/

Gritsaev S.V.

Rossiĭskiĭ NII gematologii i transfuziologii, Sankt-Peterburg;
K/O "Gematologiia"

Martynkevich I.S.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Petrova E.V.

National research of Tomsk State University, City Hospital №2, Tomsk

Martynenko L.S.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Ivanova M.P.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Aksenova V.Iu.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Tsybakova N.Iu.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Potikhonova N.A.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Abdulkadyrov K.M.

Rossiĭskiĭ NII gematologii i transfuziologii, Sankt-Peterburg;
K/O "Gematologiia"

Cytogenetic profile in patients with primary myelodysplastic syndrome

Authors:

Gritsaev S.V., Martynkevich I.S., Petrova E.V., Martynenko L.S., Ivanova M.P., Aksenova V.Iu., Tsybakova N.Iu., Potikhonova N.A., Abdulkadyrov K.M.

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Journal: Therapeutic Archive. 2013;85(7): 43‑49

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To cite this article:

Gritsaev SV, Martynkevich IS, Petrova EV, et al. . Cytogenetic profile in patients with primary myelodysplastic syndrome. Therapeutic Archive. 2013;85(7):43‑49. (In Russ.)

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Abstract:

Aim. To analyze the prevalence of chromosome aberrations presented in the revised International Prognostic Scoring System (R-IPSS) in patients with de novo myelodysplastic syndrome (MDS). Subjects and methods. Chromosome aberrations were analyzed in 197 patients aged 14 to 86 years (median age 64 years) with de novo MDS. Results. Karyotype abnormalities were revealed in 129 (65.5%) patients with de novo MDS. According to the IPSS criteria, the karyotypes found 52 (26.4%) patients were assigned to an intermediate prognostic group whereas in accordance with the R-IPSS guidelines, an intermediate karyotype group included chromosome abnormalities in 32 (16.2%) patients. Out of 5 R-IPSS prognostic types, the favorable karyotype group was the largest (48.2%). The very favorable and unfavorable karyotype groups comprised few patients with MDS: 3 and 3.6%, respectively. Despite the fact that it was not mentioned in the R-IPSS, a monosomal karyotype was verified in 24 (12.2%) patients There was a correlation of the (normal and complex) karyotype with bone marrow blast counts (r=0.469; p=0.000), but not with age. Conclusion. A variety of cytogenetic damages cannot identify the prognostic potential of all chromosome aberrations occurring in patients with MDS even if prognostic factors increased up to 5.

Keywords:

de novo myelodysplastic syndrome

karyotype

R-IPS

Authors:

Gritsaev S.V.

Rossiĭskiĭ NII gematologii i transfuziologii, Sankt-Peterburg;
K/O "Gematologiia"

Martynkevich I.S.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Petrova E.V.

National research of Tomsk State University, City Hospital №2, Tomsk

Martynenko L.S.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Ivanova M.P.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Aksenova V.Iu.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Tsybakova N.Iu.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Potikhonova N.A.

Klinicheskiĭ otdel "Gematologiia" Rossiĭskogo nauchno-issledovatel'skogo instituta gematologii i transfuziologii, Sankt-Peterburg

Abdulkadyrov K.M.

Rossiĭskiĭ NII gematologii i transfuziologii, Sankt-Peterburg;
K/O "Gematologiia"

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References:

Bejar R., Stevenson K., Abdel-Wahab O. et al. Clinical effect of point mutation in myelodysplastic syndromes. N Ehgl J Med 2011; 364: 2496-2506.
Rocquain J., Carbuccia N., Trouplin V. et al. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias. BMC Cancer 2010, 10: 401-407.
Thol F., Weissinger E.M., Krauter J. et al. IDH1 mutations in patients with myelodysplastic syndromes are associated with an unfavorable prognosis. Haematologica 2010; 95: 1668-1674.
Tefferi A., Vardiman J.W. Myelodysplastic syndromes. N Engl J Med 2009; 36: 1872-1885.
Greenberg P., Cox C., LeBeau M.M. et al. International scoring system for evaluation prognosis in myelodysplastic syndromes. Blood 1997; 89: 2079-2088.
Bacher U., Kern W., Alpermann T. et al. Prognosis in patients with MDS or AML and bone marrow blasts between 10% and 30% is not associated with blast counts but depends on cytogenetic and molecular genetic characteristics. Leukemia 2011; 25: 1361-1364.
Schanz J., Steidl C., Fonatsch C. et al. Coalesced multicentric analysis of 2,351 patients with myelodysplastic syndromes indicates an underestimation of poor-risk cytogenetics of myelodysplastic syndromes in the International Prognostic Scoring System. J Clin Oncol 2011; 29: 1963-1970.
Belli C.B., Bengioґ R., Aranguren P.N. et al. Partial and total monosomal karyotypes in myelodysplastic syndromes: comparative prognostic relevance among 421 patients. Am J Hematol 2011; 86: 540-545.
Patnaik M.M., Hanson C.A., Hodnefield J.M. et al. Monosomal karyotype in myelodysplastic syndromes, with or without monosomy 7 or 5, is prognostically worse than an otherwise complex karyotype. Leukemia 2011; 25: 266-270.
Kantarjian H., O'Brien S., Ravandi F. et al. Proposal for a new risk model in myelodysplastic syndrome that accounts for events not considered in the original International Prognostic Scoring System. Cancer 2008; 113: 1351-1361.
Solé 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.
Haase D. Cytogenetic features in myelodysplastic syndromes. Ann Hematol 2008; 87: 515-526.
Haase D., Germing U., Schanz J. 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. Blood 2007; 110: 4385-4395.
Schanz J., Tuchler H., Sole F. et al. Proposal of a new, comprehensive cytogenetic scoring system for primary MDS. Haematologica 2010; 95 (Suppl. 2): Abstr. 535.
Greenberg P., Tuchler H., Schanz J. et al. Revised International prognostic scoring system, developed by the International Prognostic Working Group for prognosis in MDS. Leuk Res 2011; 35 (Suppl. 1): Abstr. 14.
Vardiman J.W., Thiele J., Arber D.A. et al. The 2008 revision of theWorld Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood 2009; 114: 937-951.
List A., Kurtin S., Roe D.J. et al. Efficacy of lenalidomide in myelodysplastic syndromes. N Engl J Med 2005; 352: 549-557.
Ades L., Boehrer S., Prebet T. et al. Efficacy and safety of lenalidomide in intermediate-2 or high-risk myelodysplastic syndromes with 5q deletion: results of a phase 2 study. Blood 2009; 113: 3947-3952.
Breems D.A., Van Putten W.L.J., De Greef G.E. et al. Monosomal karyotype in acute myeloid leukemia: a better indicator of poor prognosis than a complex karyotype. J Clin Oncol 2008; 26: 4791-4797.
Abdulkadyrov K.M. Gematologiya. Noveishii spravochnik po gematologii. M: Eksmo; SPb: Sova 2005; 928.
Bennett J.M., Catovsky D., Daniel M.T. et al. Proposals for the classification of the myelodysplastic syndromes. Br J Haematol 1982; 51: 189-199.
Malcovati L., Porta M., Pascutto C. et al. Prognostic factors and life expectancy in myelodysplastic syndromes classified according to WHO criteria: a basis for clinical decision making. J Clin Oncol 2005; 23: 7594-7603.
Qu S., Xu Z., Zhang Y. et al. Impacts of cytogenetic categories in the Revised International Prognostic Scoring System on the prognosis of primary myelodysplastic syndromes: results of a single-center study. Leuk Lymph 2011; early online: 1-7.
Giagounidis A.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 2004; 18: 113-119.
Holtan S.G., Santana-Davila R., Dewald G.W. et al. Myelodysplastic syndromes associated with interstitial deletion of chromosome 5q: clinicopathologic correlations and new insights from the pre-lenalidomide era. Am J Hematol 2008; 83: 708-713.
Patnaik M.M., Lasho T.L., Finke C.M. et al. WHO-defined 'myelodysplastic syndrome with isolated del(5q)' in 88 consecutive patients: survival data, leukemic transformation rates and prevalence of JAK2, MPL and IDH mutations. Leukemia 2010; 24: 1283-1289.
Mallo M., Cervera J., Schanz J. et al. Impact of adjunct cytogenetic abnormalities for prognostic stratification in patients with myelodysplastic syndrome and deletion 5q. Leukemia 2011; 25: 110-120.
Lamarque M., Raynaud S., Itzykson R. et al. Impact of the provisional revised-IPSS in 265 MDS patients treated with azacitidine: the Groupe Francophone Des Myelodysplasies experience. Blood 2011; 118: 972.
Bernasconi P., Klersy C., Boni M. et al. Incidence and prognostic significance of karyotype abnormalities in de novo primary myelodysplastic syndromes: a study on 331 patients from a single institution. Leukemia 2005; 19: 1424-1431.
Wang S.A., Jabbar K., Lu G. et al. Trisomy 11 in myelodysplastic syndromes defines a unique group of disease with aggressive clinicopathologic features. Leukemia 2010; 24: 740-747.
Sanz G., Nomdedeu B., Such E. et al. Independent impact of iron overload and transfusion dependency on survival and leukemic evolution in patients with myelodysplastic syndrome. Blood 2008; 112: 640.
Germing U., Hildebrandt B., Pfeilstöcker M. et al. Refinement of the international prognostic scoring system by including LDH as an additional prognostic variable to improve risk assessment in patients with primary myelodysplastic syndromes. Leukemia 2005; 19: 2223-2231.
Della Porta M.G., Malcovati L. Myelodysplastic syndromes with bone marrow fibrosis. Haematologica 2011; 96: 180-183.
Malcovati L., Della Porta M.G., Cazzola M. Predicting survival and leukemic evolution in patients with myelodysplastic syndrome. Haematologica 2006; 91: 1588-1590.
Czibere A., Bruns I., Junge B. et al. Low RPS14 expression is common in myelodysplastic syndromes without 5q-aberration and defines a subgroup of patients with prolonged survival. Haematologica 2009; 94: 1453-1455.
Malcovati L., Papaemmanuil E., Hellström-Lindberg E. et al. Somatic mutation of SF3B1, a gene encoding a core component of RNA splicing machinery, in myelodysplasia with ring sideroblasts. Blood; 2011; 118: 3.