Síndrome mielodisplásico: aspectos básicos y abordaje diagnóstico

Myelodysplastic syndromes: basics and diagnostic assessment

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Juan Camilo Cataño Pulgarin
Oscar Andres Franco
Yaneth Rocio Orduz
Resumen

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.

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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.

Robert P. Hasserjian. Myelodysplastic Syndrome Updated. Pathobiology. [Internet]. 2019;86:7-13. Disponible en: https://doi.org/10.1159/000489702

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Hidekazu K. Histopathology in the diagnosis of high-risk myelodysplastic

syndromes. J Clin Exp Hematop. [Internet]. 2018;58(2):51–60. Disponible en: https://doi.org/10.3960/jslrt.18009

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

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

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

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

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

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/

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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