Revista Médica del Instituto Mexicano del Seguro Social

Contents by Year, Volume and Issue

Table of Contents

General Information

Instructions for Authors

Message to Editor

Editorial Board

>Journals >Revista Médica del Instituto Mexicano del Seguro Social >Year 2017, Issue 4

Borjas-Gutiérrez C, Domínguez-Cruz MD, González-García JR
Cytogenetics of myelodysplastic syndromes and its impact as prognostic factor
Rev Med Inst Mex Seguro Soc 2017; 55 (4)

Language: Español
References: 32
Page: 481-489
PDF: 194.59 Kb.

Full text


Myelodysplastic syndromes (MDS) are a group of disorders of the hematopoietic stem cell. They are characterized by cytopenia(s), dysplasia of one or more cell lines, ineffective hematopoiesis, and an increased risk for developing acute myelogenous leukemia. The classification of MDS has been complicated due to the great heterogeneity in clinical phenotype as well as in the morphological and cytogenetic characteristics. The prognostic value of cytogenetic abnormalities in MDS has been analyzed in multicenter studies. This approach raised the development of the revised International Prognostic Scoring System (IPSS-R), which analyzes five prognostic variables, among which the cytogenetic study stands out. According to the cytogenetic findings, a classification of MDS in five subgroups was developed. Knowledge of the cytogenetic abnormalities has led to the study of genes involved in various chromosomal rearrangements. Moreover, DNA sequencing has helped to identify mutations in approximately 50 genes related to signal transduction, DNA methylation, transcriptional regulation, and RNA splicing. Therefore, the cytogenetic study should be used to improve the classification and therapeutic management of MDS. This approach will be an essential tool for the development of targeted therapy protocols.

Key words: Cytogenetics, Mutation, Genetic translocation, DNA, Myelodysplastic, syndromes.


  1. Brunning RD, Orazi A, Germing U, Le Beau MM, Porwit A, Baumann I, et al. Myelodisplastic syndromes/ neoplasma, overview. En: Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, (eds). WHO Clasifi cation of Tumours of Haematopoietic and Lymphoid Tissues. Lyon: IARC; 2008. pp. 88-93.

  2. Visconte V, Selleri C, Maciejewski JP, Tiu RV. Molecular pathogenesis of myelodysplastic syndromes. Transl Med UniSa. 2014;8:19-30. eCollection 2014.

  3. Germing U, Strupp C, Kuendgen A, Bowen D, Aul C, Haas R, et al. No increase in age-specifi c incidence of myelodisplastic syndromes. Heametologica. 2004; 89(8):905-10.

  4. Germing U, Kobbe G, Haas R, Gattermann N. Myelodysplastic syndromes: diagnosis, prognosis, and treatment. Dtsch Arztebl Int. 2013;110(46):783-90. doi: 10.3238/arztebl.2013.0783.

  5. Greenberg PL, Attar E, John M. Bennett JM, Bloomfi eld CD, Carlos M, et al. Myelodysplastic Syndromes: Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2013;11(7):838-74.

  6. Garcia-Manero G. Myelodysplastic syndromes: 2015 Update on diagnosis, risk-stratifi cation and management. Am J Hematol. 2015;90(9):831-41. doi: 10.1002/ajh.24102

  7. Malcovati L, Hellström-Lindberg E, Bowen D, Adès L, Cermak J, Del Cañizo C, et al. Diagnosis and treatment of primary myelodysplastic syndromes in adults: recommendations from the European Leukemia Net. Blood. 2013;122(17):2943-64. doi: 10.1182/ blood-2013-03-492884

  8. Verbgurh E, Achten R, Louw BJ, Brusselmans C, Delforge M, Boogaerts M, et al. A new disease categorization of low-grade myelodisplastic syndromes based on the expression of cytopenia and dysplasia in one versus more than one lineage improves on the WHO classifi cation. Leukemia. 2007;21(4):668-77.

  9. Lukackova R, Gerykova Bujalkova M, Majerova L, Mladosievicova B. Molecular genetic methods in the diagnosis of myelodysplastic syndromes. A review. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2014;158(3):339-45. doi: 10.5507/bp.2013.084

  10. Haase D, Germing U, Schanz J, Pfeilstocker M, Nosslinger T, Hildebrandt B, 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(13):4385-95.

  11. Bennett JM, Catovsky D, Daniel MT, Flandrin G, Galton DA, Gralnick HR, et al. Proposals for the classifi cation of the myelodysplastic syndromes. Br J Haematol. 1982;51(2):189-99.

  12. Vardiman JW, Thiele J, Arber DA, Brunning RD, Borowitz MJ, Porwit A, et al. The 2008 revision of the World Health Organization (WHO) classifi cation of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114(5):937-51. doi: 10.1182/blood-2009-03-209262.

  13. Wimazal F, Fonatsch C, Thalhammer R, Schwarzinger I, Mullauer L, Sperr WR, et al. Idiopathic cytopenia of undetermined signifi cance (ICUS) versus low risk MDS: the diagnostic interface. Leuk Res. 2007;31(11):1461- 68. doi: 10.1016/j.leukres.2007.03.015

  14. Haase D. Cytogenetic features in myelodysplastic syndromes. Ann Hematol. 2008;87(7):515-26. doi: 10.1007/ s00277-008-0483-y.

  15. Knapp RH, Dewald GW, Pierre RV. Cytogenetic studies in 174 consecutive patients with preleukemic or myelodysplastic syndromes. Mayo Clin Proc. 1985;60(8):507-16.

  16. Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89(6):2079-88.

  17. Malcovati L, Germing U, Kuendgen A, Della Porta MG, Pascutto C, Invernizzi R, et al. Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodisplastic syndromes. J Clin Oncol. 2007;25(23):3503-10.

  18. Solé F, Luno E, Sanzo C, Espinet B, Sanz GF, Cervera J, et al. Identification of novel cytogenetic markers with prognostic signifi cance in a series of 968 patients with primary myelodysplastic syndromes. Haematologica. 2005;90(9):1168-78.

  19. Greenberg PL, Tuechler H, Schanz J, Sanz G, Garcia- Manero G, Solé F, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120(12):2454-65.

  20. Schanz J, Tüchler H, Solé F, Mallo M, Luño E, Cervera J, et al. New comprehensive cytogenetic scoring system for primary myelodysplastic syndromes and oligoblastic AML following MDS derived from an international database merge. J Clin Oncol. 2012;30 (8):820-9. doi: 10.1200/JCO.2011.35.6394.

  21. Earle VL, Ross F, Fisher A, Strike P, Berrington S, Chieccho L, et al. Haematopoietic growth factors signifi cantly improve the mitotic index and chromosome quality in cytogenetic cultures of mieloide neoplasia. Genes Chromosomes Cancer. 2007;46(7):670-4.

  22. Mitelman F, Johansson B and Mertens F (Eds.). Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer (2016). Disponible en http://cgap.nci.nih.gov/Chromosomes/Mitelman [Consultado el 24 de abril de 2016].

  23. De Souza DC, Fernandez C de S, Camargo A, Apa AG, da Costa ES, Bouzas LF, et al. Cytogenetic as an important tool for diagnosis and prognosis for patients with hypocellular primary myelodysplastic syndrome. Biomed Res Int. 2014;2014:542395. doi: 10.1155/2014/542395

  24. Malcovati L, Della Porta MG, Strupp C, Ambaglio I, Kuendgen A, Nachtkamp K, et al. Impact of the degree of anemia on the outcome of patients with myelodysplastic syndrome and its integration into the WHO classifi cation-based Prognostic Scoring System (WPSS). Haematologica. 2011; 96(10):1433-40. doi: 10.3324/haematol.2011.044602.

  25. Bejar R. Clinical and genetic predictors of prognosis in myelodysplastic syndromes. Haematologica. 2014;99 (6):956-64. doi: 10.3324/haematol.2013.085217

  26. Greenberg PL, Stone RM, Bejar R, Bennett JM, Bloomfi eld CD, Uma Borate, et al. Myelodysplastic Syndromes, Version 2.2015: Featured Updates to the NCCN Guidelines. J Natl Compr Canc Netw. 2015;13(3):261-72.

  27. Mishra A, Corrales-Yepez M, Ali NA, Kharfan-Dabaja M, Padron E, Zhang L, et al. Validation of the revised International Prognostic Scoring System in treated patients with myelodysplastic syndromes. Am J Hematol. 2013;88(7):566-70. doi: 10.1002/ajh.23454

  28. Visconte V, Selleri C, Maciejewski JP, Tiu RV. Molecular pathogenesis of myelodysplastic syndromes. Transl Med UniSa. 2014;8:19-30. eCollection 2014.

  29. Papaemmanuil E, Gerstung M, Malcovati L, Tauro S, Gundem G, Van Loo P, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122(22):3616-27. doi: 10.1182/ blood-2013-08-518886

  30. Haferlach T, Nagata Y, Grossmann V, Okuno Y, Bacher U, Nagae G, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014;28(2):241-7. doi: 10.1038/ leu.2013.336.

  31. Lindsley RC, Ebert BL. Molecular pathophysiology of myelodysplastic syndromes. Annu Rev Pathol. 2013;8(1):21- 47. Doi: 10.1146/annurev-pathol-011811-132436

  32. Schoch C, Kern W, Kohlmann A, Hiddemann W, Schnittger S, Haferlach T. Acute myeloid leukemia with a complex aberrant karyotype is a distinct biological entity characterized by genomic imbalances and a specifi c gene expression profi le. Genes Chromosomes Cancer. 2005;43(3):227-38.

>Journals >Revista Médica del Instituto Mexicano del Seguro Social >Year 2017, Issue 4

· Journal Index 
· Links 

Copyright 2019