Ir al menú de navegación principal Ir al contenido principal Ir al pie de página del sitio

Síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico

Myelodysplastic syndromes: basics and diagnostic assessment



Abrir | Descargar


Sección
Revisiones

Cómo citar
Síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico.
Rev. colomb. hematol. oncol. [Internet]. 2021 Oct. 1 [cited 2025 Jan. 8];8(1):90-106. Disponible en: https://doi.org/10.51643/22562915.120

Licencia
Creative Commons License

Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-SinDerivadas 4.0.

Juan Camilo Cataño Pulgarin
    Oscar Andres Franco
      Yaneth Rocio Orduz

        El Síndrome Mielodisplásico (SMD) es un grupo de neoplasias hematológicas cuyo diagnóstico se basa en la presencia de citopenia inexplicada, displasia de alguna de las líneas mieloides y anormalidades citogenéticas típicas. Los estudios moleculares han permitido avanzar en el estudio de la fisiopatología y se han incorporado también al abordaje diagnóstico, permitiendo la clasificación en subtipos específicos, así como la predicción de respuesta a terapias específicas y el pronóstico. A pesar de esto, el diagnóstico aún recae en una adecuada historia clínica, en el análisis morfológico, en la exclusión de otras entidades que cursan con displasia y en los estudios de citogenética. La citometría de flujo no hace parte de los criterios diagnósticos, pero puede ser de utilidad en casos dudosos. El pronóstico es variable en función del subtipo pero, en general, es pobre y además del IPSS-R, se han identificado otras variables que inciden en el pronóstico, sobre todo en los casos asociados a terapia.


        Visitas del artículo 20775 | Visitas PDF 10897


        1. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileria SA, Stein H, Thiele J, Arber D, Hasserjian RP, LeBeau MM, Orazi A, Siebert R (eds): WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, revised 4th edition. Lyon: International Agency for Research on Cancer; 2017.
        2. Robert P. Hasserjian. Myelodysplastic Syndrome Updated. Pathobiology. [Internet]. 2019;86:7-13. Disponible en: https://doi.org/10.1159/000489702
        3. Mufti GJ, Bennett JM, Goasguen J, Bain BJ, Baumann I, Brunning R, et al. Diagnosis and classification of myelodysplastic syndrome: International Working Group on Morphology of myelodysplastic syndrome (IWGM-MDS) consensus proposals for the definition and enumeration of myeloblasts and ring sideroblasts. Haematologica. [Internet]. 2008;93(11):1712-1717. Disponible en: https://doi.org/10.3324/haematol.13405
        4. Valent P, Orazi A, Steensma D, Ebert BL, Haase D, Malcovati L, et al. Proposed minimal diagnostic criteria for myelodysplastic syndromes (MDS) and potential pre-MDS conditions. Oncotarget. [Internet]. 2017;8(43):73483-73500. Disponible en: https://doi.org/10.18632/oncotarget.19008
        5. Greenberg P, Cox C, LeBeau MM, Fenaux P, Morel P, Sanz G, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. [Internet]. 1997;89(6):2079-2088. Disponible en: https://doi.org/10.1182/blood.V89.6.2079
        6. Fernandez-Pol S, Ma L, Ohgami RS, Arber DA. Significance of myelodysplastic syndrome associated somatic variants in the evaluation of patients with pancytopenia and idiopathic cytopenias of undetermined significance. Modern Pathology. [Internet]. 2016;29(9):996-1003. Disponible en: https://doi.org/10.1038/modpathol.2016.100
        7. Valent P, Bainc BJ, Bennett JM, Wimazal F, et al. Idiopathic cytopenia of undetermined significance (ICUS) and idiopathic dysplasia of uncertain significance (IDUS), and their distinction from low risk MDS. Leukemia Research. [Internet]. 2012;36(1):1-5. Disponible en: https://doi.org/10.1016/j.leukres.2011.08.016
        8. Mili Jain, Anil Tripathi. ICUS/CCUS/CHIP: basics & beyond. Expert Rev Hematol. [Internet]. 2017;10(10):915-920. Disponible en: https://doi.org/10.1080/17474086.2017.1371588
        9. Gondek LP, DeZern AE. Assessing clonal haematopoiesis: clinical burdens and benefits of diagnosing myelodysplastic syndrome precursor states. Lancet Haematol. [Internet]. 2020;7(1):e73-e81. Disponible en: https://doi.org/10.1016/S2352-3026(19)30211-X
        10. Steensma DP. The Clinical Challenge of Idiopathic Cytopenias of Undetermined Significance (ICUS) and Clonal Cytopenias of Undetermined Significance (CCUS). Curr Hematol Malig Rep. [Internet]. 2019;14(6):536-542. Disponible en: https://doi.org/10.1007/s11899-019-00547-3
        11. Mahmood R, Altaf C, Ahmed P, Khan SA, Malik HS. Myelodysplastic Syndrome in Pakistan: Clinicohematological Characteristics, Cytogenetic Profile, and Risk Stratification. Turk J Hematol. [Internet]. 2018;35(2):109-115. Disponible en: https://doi.org/10.4274/tjh.2017.0130
        12. Zeidana AM, Shallisa RM, Wang RW, Davidoff A, Mab X. Epidemiology of myelodysplastic syndromes: Why characterizing the beast is a prerequisite to taming it. Blood Rev. [Internet]. 2019;34:1-15. Disponible en: https://doi.org/10.1016/j.blre.2018.09.001
        13. Rodger EJ, Morison IM. Myelodysplastic syndrome in New Zealand and Australia. Intern Med J. [Internet]. 2012;42(11):1235-42. Disponible en: https://doi.org/10.1111/j.1445-5994.2011.02619.x
        14. Cogle CR, Craig BM, Rollison DE, List AF. Incidence of the myelodysplastic syndromes using a novel claims-based algorithm: high number of uncaptured cases by cancer registries. Blood. [Internet]. 2011;117(26):7121-7125. Disponible en: https://doi.org/10.1182/blood-2011-02-337964
        15. Sweeney MR, Applebaum KM, Arem H, Braffett BH, Poynter JN, Robien K. Medical Conditions and Modifiable Risk Factors for Myelodysplastic Syndrome: A Systematic Review. Cancer Epidemiol Biomarkers Prev. [Internet]. 2019;28(9):1502-1517. Disponible en: https://doi.org/10.1158/1055-9965.EPI-19-0106
        16. Schnatter AR, Glass DC, Tang G, Irons RD, Rushton L. Myelodysplastic syndrome and benzene exposure among petroleum workers: an international pooled analysis. J Natl Cancer Inst. [Internet]. 2012;104(22):1724-1737. Disponible en: https://doi.org/10.1093/jnci/djs411
        17. Link DC. Mechanisms of leukemic transformation in congenital neutropenia. Curr Opin Hematol. [Internet]. 2019;26(1):34-40. Disponible en: https://doi.org/10.1097/MOH.0000000000000479
        18. Candelaria M, Dueñas-Gonzalez A. Therapy-related myelodysplastic syndrome. Expert Opin Drug Saf. [Internet]. 2015;4(5):655-665. Disponible en: https://doi.org/10.1517/14740338.2015.1014340
        19. Ming Ong D, Farrugia H, Wei A. Therapy-related acute myeloid leukaemia and myelodysplastic syndrome in Victoria, Australia 2003-2014. Intern Med J. [Internet]. 2018;48(7):822-829. Disponible en: https://doi.org/10.1111/imj.13714
        20. Nagata Y, Maciejewski JP. The functional mechanisms of mutations in myelodysplastic syndrome. Leukemia. [Internet]. 2019;33(12):2779-2794. Disponible en: https://doi.org/10.1038/s41375-019-0617-3
        21. Meggendorfer M, Haferlach C, Kern W, Haferlach T. Molecular analysis of myelodysplastic syndrome with isolated deletion of the long arm of chromosome 5 reveals a specific spectrum of molecular mutations with prognostic impact: a study on 123 patients and 27 genes. Haematologica. [Internet]. 2017;102(9):1502-1510. Disponible en: https://doi.org/10.3324/haematol.2017.166173
        22. Shallis RM, Ahmad R, Zeidan AM. The genetic and molecular pathogenesis of myelodysplastic syndromes. Eur J Haematol. [Internet]. 2018;101(3):260-271. Disponible en: https://doi.org/10.1111/ejh.13092
        23. Sundaravela S, Duggana R, Bhagatb T, Ebenezera DL, Liua H, Yub Y et al. Reduced DOCK4 expression leads to erythroid dysplasia in myelodysplastic syndromes. Proc Natl Acad Sci U S A. [Internet]. 2015;112(46):E6359-E6368. Disponible en: https://doi.org/10.1073/pnas.1516394112
        24. Frietsch JJ, Dornaus S, Neumann T, Scholl S, Schmidt V, Kunert C et al. Paraneoplastic inflammation in myelodysplastic syndrome or bone marrow failure: case series with focus on 5-azacytidine and literature review. Eur J Haematol. [Internet]. 2014;93(3):247-259. Disponible en: https://doi.org/10.1111/ejh.12311
        25. Montoro J, Gallur L, Merchán B, Molero A, Roldán E, Martínez-Valle F et al. Autoimmune disorders are common in myelodysplastic syndrome patients and confer an adverse impact on outcomes. Ann Hematol. [Internet]. 2018;97(8):1349-1356. Disponible en: https://doi.org/10.1007/s00277-018-3302-0
        26. Esatoglu SN, Hatemi G, Salihoglu A, Hatemi I,Soysal T, Celik AF. A reappraisal of the association between Behçet's disease, myelodysplastic syndrome and the presence of trisomy 8: a systematic literature review. Clin Exp Rheumatol. [Internet]. 2015;33(6Suppl94):S145-S151. Disponible en: https://www.clinexprheumatol.org/abstract.asp?a=8539
        27. Vijenthiraa A, Premkumarb D, Callum J, Linc Y, Wellse RA, Chodirkere L et al. The management and outcomes of patients with myelodysplastic syndrome with persistent severe thrombocytopenia: An observational single centre registry study. Leuk Res. [Internet]. 2019;76:76-81. Disponible en: https://doi.org/10.1016/j.leukres.2018.12.002
        28. Li W, Morrone K, Kambhampati S, Will B, Steidl U, Verma A. Thrombocytopenia in MDS: epidemiology, mechanisms, clinical consequences and novel therapeutic strategies. Leukemia. [Internet]. 2016;30(3):536-544. Disponible en: https://doi.org/10.1038/leu.2015.297
        29. Farah C, Bulai Livideanu C, Jegu J, Paul C, Viraben R, Lamant L et al. Prevalence and prognostic value of cutaneous manifestations in patients with myelodysplastic syndrome. J Eur Acad Dermatol Venereol. [Internet]. 2010; 24(10):1171-1175. Disponible en: https://doi.org/10.1111/j.1468-3083.2010.03614.x
        30. Amin HM, Yang Y, Shen Y, Estey EH, Giles FJ, Pierce SA, et al. Having a higher blast percentage in circulation than bone marrow: clinical implications in myelodysplastic syndrome and acute lymphoid and myeloid leukemias. Leukemia. [Internet]. 2005;19(9):1567–1572. Disponible en: https://doi.org/10.1038/sj.leu.2403876
        31. Hidekazu K. Histopathology in the diagnosis of high-risk myelodysplastic
        32. syndromes. J Clin Exp Hematop. [Internet]. 2018;58(2):51–60. Disponible en: https://doi.org/10.3960/jslrt.18009
        33. Goasguen JE, Bennett JM, Bain BJ, Brunning R, Vallespi MT, Tomonaga M et al. Dyserythropoiesis in the diagnosis of the myelodysplastic syndromes and other myeloid neoplasms: problem areas. Br J Haematol. [Internet]. 2018;182(4):526-533. Disponible en: https://doi.org/10.1111/bjh.15435
        34. Liang C, Li J, Cheng J, Chen S, Ye Z, Zhang F, et al. (2017). Characteristics of bone marrow cell dysplasia and its effectiveness in diagnosing myelodysplastic syndrome. Hematology. [Internet]. 2017;23(2):65-76. Disponible en: http://dx.doi.org/10.1080/10245332.2017.1347247
        35. Schemenau J, Baldus S, Anlauf M, Reinecke P, Braunstein S, Blum S et al. Cellularity, characteristics of hematopoietic parameters and prognosis in myelodysplastic syndromes. Eur J Haematol. [Internet]. 2015;95(3):181-9. Disponible en: https://doi.org/10.1111/ejh.12512
        36. Matsushima T, Handa H, Yokohama A, Nagasaki J, Koiso H, Kin Y et al. Prevalence and clinical characteristics of myelodysplastic syndrome with bone marrow eosinophilia or basophilia. Blood. [Internet]. 2003;101(9):3386-3390. Disponible en: https://doi.org/10.1182/blood-2002-03-0947
        37. Durrani J, Maciejewski JP. Idiopathic aplastic anemia vs hypocellular myelodysplastic syndrome. Hematology Am Soc Hematol Educ Program. [Internet]. 2019;2019(1):97-104. Disponible en: https://doi.org/10.1182/hematology.2019000019
        38. Nakanishi R, Ishida M, Hodohara K, Yoshida T, Yoshii M, Okuno H et al. Prominent gelatinous bone marrow transformation presenting prior to myelodysplastic syndrome: a case report with review of the literature. Int J Clin Exp Pathol. [Internet]. 2013;6(8):1677-1682. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3726986/
        39. Takahashi M, Koike T, Nagayama R, Fujiwara M, Koyama S, Ohnisht M, Nakamori Y, Soga N, Aoki S, Tatewaki W, Wada K, Moriyama Y, Shibata A. Myelodysplastic syndrome with myelofibrosis: myelodysplastic syndrome as a major primary disorder for acute myelofibrosis. Clin. lab. Haemat. [Internet]. 1991;13(1):17-23. Disponible en: https://doi.org/10.1111/j.1365-2257.1991.tb00247.x
        40. Malcovati L, Della Porta MG, Lunghi M, Pascutto C, Vanelli L, Travaglino E et al. Flow cytometry evaluation of erythroid and myeloid dysplasia in patients with myelodysplastic syndrome. Leukemia. [Internet]. 2005;19(5):776-783. Disponible en: https://doi.org/10.1038/sj.leu.2403680
        41. Della Porta MG, Malcovati L, Invernizzi R, Travaglino E, Pascutto C, Maffioli M et al. Flow cytometry evaluation of erythroid dysplasia in patients with myelodysplastic syndrome. Leukemia. [Internet]. 2006;20(4):549-555. Disponible en: https://doi.org/10.1038/sj.leu.2404142
        42. Porwit A, van de Loosdrecht AA, Bettelheim P, Eidenschink Brodersen L, Burbury K, Cremers E et al. Revisiting guidelines for integration of flow cytometry results in the WHO classification of myelodysplastic syndromes—proposal from the International/European LeukemiaNet Working Group for Flow Cytometry in MDS. Leukemia. [Internet]. 2014;28(9):1793-1798. Disponible en: https://doi.org/10.1038/leu.2014.191
        43. Goardon N, Nikolousis E, Sternberg A, Chu W-K, Craddock C, Richardson P, et al. Reduced CD38 expression on CD34+ cells as a diagnostic test in myelodysplastic syndromes. Haematologica. [Internet]. 2009;94(8):1160–1163. Disponible en: https://doi.org/10.3324/haematol.2008.004085
        44. Alayed K, Meyerson JB, Osei ES, Blidaru G, Schlegelmilch J, Johnson M et al. CD177 Enhances the Detection of Myelodysplastic Syndrome by Flow Cytometry. Am J Clin Pathol. [Internet]. 2020;153(4):554-565. Disponible en: https://doi.org/10.1093/ajcp/aqz196
        45. Dan Ch, Chi J, Wang L. Molecular mechanisms of the progression of myelodysplastic syndrome to secondary acute myeloid leukaemia and implication for therapy. Ann Med. [Internet]. 2015;47(3):209-217. Disponible en: https://doi.org/10.3109/07853890.2015.1009156
        46. 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. [Internet]. 2012;30(8):820-829. Disponible en: https://doi.org/10.1200/JCO.2011.35.6394
        47. Marisavljevic D, Savic A, Zeremski V, Stanisavljevic, Jelic S. Myelodysplastic syndromes in adults aged less than 50 years: Incidence and clinicopathological data. JBUON. [Internet]. 2014;19(4):999-1005. Disponible en: https://www.jbuon.com/archive/19-4-999.pdf
        48. Wang F, Ni J, Wu L, Wang Y, He B, Yu D. Gender disparity in the survival of patients with primary myelodysplastic syndrome. J Cancer. [Internet]. 2019;10(5):1325-1332. Disponible en: https://doi.org/10.7150/jca.28220
        49. Breccia M, Federico V, Latagliata R, Mercanti C, D’Elia GM, Cannella L et al. Evaluation of comorbidities at diagnosis predicts outcome in myelodysplastic syndrome patients. Leukemia Research. [Internet]. 2011;35(2):159-162. Disponible en: https://doi.org/10.1016/j.leukres.2010.06.005
        50. Falantes JF, Márquez-Malaver FJ, Knight T, Calderón-Cabrera C, Martino ML, González J et al. The incorporation of comorbidities in the prognostication of patients with lower-risk myelodysplastic syndrome. Leuk Lymphoma. [Internet]. 2017;58(8):1893-1902. Disponible en: https://doi.org/10.1080/10428194.2016.1267350
        51. Sevindik OG, Guc Z, Kahraman S, Solmaz SM, Katgi A, Acar C et al. Hypoalbuminemia is a surrogate biomarker of poor prognosis in myelodysplastic syndrome even when adjusting for comorbidities. Leuk Lymphoma. [Internet]. 2015;56(9):2552-2555. Disponible en: https://doi.org/10.3109/10428194.2015.1014362
        52. Kulasekararaj AG, Smith AE, Mian SA, Mohamedali AM, Krishnamurthy P, Lea NC et al. TP53 mutations in myelodysplastic syndrome are strongly correlated with aberrations of chromosome 5, and correlate with adverse prognosis. Br J Haematol. [Internet]. 2013;160(5):660-672. Disponible en: https://doi.org/10.1111/bjh.12203
        53. Kröger N, Brand R, Van Biezen A, Zander A, Dierlamm J, Niederwieser D, et al. Risk factors for therapy-related myelodysplastic syndrome and acute myeloid leukemia treated with allogeneic stem cell transplantation. Haematologica. [Internet]. 2009;94(4):542–549. Disponible en: https://doi.org/10.3324/haematol.2008.000927

        Este portal usa cookies para mejorar su experiencia de usuario. Al utilizar nuestro sitio web, usted acepta nuestra Política de cookies.

        Sistema OJS 3.4.0.7 - Metabiblioteca |