Síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico

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 diagnós... Ver más

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collection Revista Colombiana de Hematología y Oncología
title Síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico
spellingShingle Síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico
Cataño Pulgarin, Juan Camilo
Franco, Oscar Andres
Orduz, Yaneth Rocio
Síndromes mielodisplásicos
médula ósea
inmunohistoquímica
citometría de flujo
citogenética
bone marrow
immunohistochemistry
flow cytometry
myelodysplastic syndromes
cytogenetics
title_short Síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico
title_full Síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico
title_fullStr Síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico
title_full_unstemmed Síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico
title_sort síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico
title_eng Myelodysplastic syndromes: basics and diagnostic assessment
description 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.
description_eng The myelodysplastic syndrome is a group of hematological neoplasms which diagnosis relies on the finding of unexplained cytopenia, morphological dysplasia of any of the major myeloid lines and typical cytogenetic aberrations; molecular studies have aided in the study of its pathophysiology and have been incorporated in the diagnostic assessment, predicting response to specific therapeutic agents and prognosis. However, its diagnosis still depends on a detailed medical examination, the morphological analysis, the exclusion of other entities that cause dysplasia and the cytogenetic studies. The flow cytometry is not a diagnostic criterion but may be helpful in equivocal cases. The prognosis is overall poor but varies according to the specific subtype and besides the IPSS-R, there are other factors that influence it particularly in therapy-associated cases.   
author Cataño Pulgarin, Juan Camilo
Franco, Oscar Andres
Orduz, Yaneth Rocio
author_facet Cataño Pulgarin, Juan Camilo
Franco, Oscar Andres
Orduz, Yaneth Rocio
topicspa_str_mv Síndromes mielodisplásicos
médula ósea
inmunohistoquímica
citometría de flujo
citogenética
topic Síndromes mielodisplásicos
médula ósea
inmunohistoquímica
citometría de flujo
citogenética
bone marrow
immunohistochemistry
flow cytometry
myelodysplastic syndromes
cytogenetics
topic_facet Síndromes mielodisplásicos
médula ósea
inmunohistoquímica
citometría de flujo
citogenética
bone marrow
immunohistochemistry
flow cytometry
myelodysplastic syndromes
cytogenetics
citationvolume 8
citationissue 1
citationedition Núm. 1 , Año 2021 : Enero-Junio
publisher Asociación Colombiana de Hematología y Oncología (ACHO)
ispartofjournal Revista Colombiana de Hematología y Oncología
source https://revista.acho.info/index.php/acho/article/view/120
language Español
format Article
rights https://creativecommons.org/licenses/by-nc-nd/4.0
Revista Colombiana de Hematología y Oncología - 2021
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-SinDerivadas 4.0.
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http://purl.org/coar/access_right/c_abf2
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spelling Síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico
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. 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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. 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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.
Cataño Pulgarin, Juan Camilo
Franco, Oscar Andres
Orduz, Yaneth Rocio
Síndromes mielodisplásicos
médula ósea
inmunohistoquímica
citometría de flujo
citogenética
Publication
8
bone marrow
Myelodysplastic syndromes: basics and diagnostic assessment
immunohistochemistry
flow cytometry
myelodysplastic syndromes
Journal article
The myelodysplastic syndrome is a group of hematological neoplasms which diagnosis relies on the finding of unexplained cytopenia, morphological dysplasia of any of the major myeloid lines and typical cytogenetic aberrations; molecular studies have aided in the study of its pathophysiology and have been incorporated in the diagnostic assessment, predicting response to specific therapeutic agents and prognosis. However, its diagnosis still depends on a detailed medical examination, the morphological analysis, the exclusion of other entities that cause dysplasia and the cytogenetic studies. The flow cytometry is not a diagnostic criterion but may be helpful in equivocal cases. The prognosis is overall poor but varies according to the specific subtype and besides the IPSS-R, there are other factors that influence it particularly in therapy-associated cases.   
cytogenetics
2021-10-01T19:10:11Z
2021-10-01T19:10:11Z
2021-10-01
10.51643/22562915.120
https://doi.org/10.51643/22562915.120
2256-2877
106
90
2256-2915
https://revista.acho.info/index.php/acho/article/download/120/368