Clinical and cytogenetic pattern in patients with myelodysplasic syndrome in Cúcuta (Norte de Santander, Colombia).
Patrón clínico y citogenético en pacientes con síndrome mielodisplásico en Cúcuta (Norte de Santander, Colombia).
Article Sidebar
PDF (Español (España))
FLIP
Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial 4.0.
Main Article Content
Myelodysplastic syndromes (MDS) are clonal neoplasms of variable prognosis according to stratification. Cytogenetics is key in diagnosis and prognosis. Population and methods: At UHE we studied 81 patients with MDS. Clinical characterization, laboratory, IPSS-R, mortality, cytogenetic analysis with description of typical clonal anomalies and atypical SMD. Results: Mean age 71 years, with female predominance. Most frequent subtype was SMD with multilineage dysplasia and unilineal dysplasia, anemia was the most common manifestation. Higher proportion of low and intermediate risk cases (IPSS-R). Mean follow-up did not show differences between groups (p = 0.18). Overall 5-year survival was 79%. Progression to AML in 9.8%. Increased number of deaths in very high (85%) and high risk (50%) groups. Cytogenetics with 72% mitotic index at 24 hours. Clonal karyotype 43% with 53 alterations of 81 studies, being complex in 8.6%. (5q) and -Y 6.1%, (20q), (11q), (17p) and +8 in 3.7%. We found cytogenetic abnormalities not typical of MDS as: -22, -13-11, from (10q), 14p+, 15q+ at 1.2%. Conclusions: Subtypes of MDS, cytopenias, IPSS-R, mortality, structural and numerical cytogenetic alterations; correlate with the literature. Presence of atypical cytogenetic alterations deserves more evaluation and expansion in international database.
Downloads
Article Details
Ma X, Does M, Raza A, Mayne ST. Myelodysplastic syndromes: incidence and survival in the United States. Cancer. 2007;109(8):1536-42.
Rollison DE, Howlader N, Smith MT, Strom SS, Merritt WD, Ries LA, et al. Epidemiology of myelodysplastic syndromes and chronic myeloproliferative disorders in the United States, 2001- 2004, using data from the NAACCR and SEER programs. Blood. 2008;112(1):45-52.
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. 2011;117(26):7121-5.
McQuilten ZK, Wood EM, Polizzotto MN, Campbell LJ, Wall M, Curtis DJ, et al. Underestimation of myelodysplastic syndrome incidence by cancer registries: results from a population-based data linkage study. Cancer. 2014;120(11):1686-94.
Swerlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, et al. WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon: IARC Press; 2008.
Pang WW, Pluvinage JV, Price EA, Sridhar K, Arber DA, Greenberg PL, et al. Hematopoietic stem cell and progenitor cell mechanisms in myelodysplastic syndromes. Proc Natl Acad Sci USA. 2013;110(8):3011-6.
Will B, Zhou L, Vogler TO, Ben-Neriah S, Schinke C, Tamari R, et al. Stem and progenitor cells in myelodysplastic syndromes show aberrant stage-specific expansion and harbor genetic and epigenetic alterations. Blood. 2012;120(10):2076-86.
Woll PS, Kjällquist U, Chowdhury O, Doolittle H, Wedge DC, Thongjuea S, et al. Myelodysplastic syndromes are propagated by rare and distinct human cancer stem cells in vivo. Cancer Cell. 2014;25(6):794-808.
Genovese G, Kähler AK, Handsaker RE, Lindberg J, Rose SA, Bakhoum SF, et al. Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med. 2014;371(26):2477-87.
Haase D, Germing U, Schanz J, Pfeilstöcker M, Nösslinger 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.
Pozdnyakova O, Miron PM, Tang G, Walter O, Raza A, Woda B, et al. Cytogenetic abnormalities in a series of 1,029 patients with primary myelodysplastic syndromes: a report from the US with a focus on some undefined single chromosomal abnormalities. Cancer. 2008;113(12):3331-40.
Mora E, Espinoza D, Casas C, Abello V, Solano M. Caracterización clínica de los pacientes con síndrome mielodisplásico. Acta Med Colomb. 2016;41:36-41.
Greenberg PL, Tuechler H, Schanz J, Sanz G, GarciaManero G, Solé F, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120(12):2454-65.
Bejar R, Levine R, Ebert BL. Unraveling the molecular pathophysiology of myelodysplastic syndromes. J Clin Oncol. 2011;29(5):504-15.
American College of Medical Genetics. Standards and guidelines for clinical genetics laboratories. 2009.
Association for Clinical Cytogenetics. Professional guidelines for clinical cytogenetics. Hematooncology best practice guidelines. 2007.
Shaffer LG, McGowan-Jordan J, Schmid M, editors. ISCN 2013. An International System for Human Cytogenetic Nomenclature (2013). Karger; 2013.
Alberbide JA. Experiencia argentina en síndromes mielodisplásicos. Hematología. 2016;20(Número Extraordinario).
Ma X, Does M, Raza A, Mayne ST. Myelodysplastic syndromes: incidence and survival in the United States. Cancer. 2007;109(8):1536-42.
Urlich G. The epidemiology of the mielodysplasics syndromes. Clinical Leukemias. 2008;2(1):34-8.
Belli CB, Pinheiro RF, Bestach Y, Larripa IB, da Silva Tanizawa RS, Alfonso G, et al. Myelodysplastic syndromes in South America: a multinational study of 1080 patients. Am J Hematol. 2015;90(10):851-8.
Davidoff AJ, Weiss SR, Baer MR, Ke X, Hendrick F, Zeidan A, et al. Patterns of erythropoiesis-stimulating agent use among Medicare beneficiaries with myelodisplasic syndromes and consistency with clinical guidelines. Leuk Res. 2013;37(6):675-80.
Schuck A, Götte M, Neukirchen J, et al. Treatment with azacitidine: a retrospective study evaluating the real life clinical course and impact on infectious complications. Blood. 2015;126:1684-90.
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. 2017;110:4385-95.
Bernasconi P. Molecular pathways in myelodysplastic syndromes and acute myeloid leukemia: relationships and distinctionsa review. Br J Haematol. 2008;142(5):695-708.
Solé F, Luño E, Sanzo C, Espinet B, Sanz GF, Cervera J, et al. Identification of novel cytogenetic markers with prognostic significance in a series of 968 patients with primary myelodysplastic syndromes. Haematologica. 2005;90(9):1168-78.
Cheson BD, Greenberg PL, Bennett JM, Lowenberg B, Wijermans PW, Nimer SD, et al. Clinical application and proposal for modification of the International Working Group (IWG) response criteria in myelodysplasia. Blood. 2006;108(2):419-25.
Bacher U, Haferlach T, Kern W, Weiss T, Schnittger S, Haferlach C. The impact of cytomorphology, cytogenetics, molecular genetics, and immunophenotyping in a comprehensive diagnostic workup of myelodysplastic syndromes. Cancer. 2009;115(19):4524-32.
Lewis S, Oscier D, Boultwood J, Ross F, Fitchett M, Rack K, et al. Hematological features of patients with myelodysplastic syndromes associated with a chromosome 5q deletion. Am J Hematol. 1995;49(3):194-200.
Wiktor A, Rybicki BA, Piao ZS, Shurafa M, Barthel B, Maeda K, et al. Clinical significance of Y chromosome loss in hematologic disease. Genes Chromosomes Cancer. 2000;27(1):11-6.
Bench AJ, Nacheva EP, Hood TL, Holden JL, French L, Swanton S, et al. Chromosome 20 deletions in myeloid malignancies: reduction of the common deleted region, generation of a PAC/BAC contig and identification of candidate genes. UK Cancer Cytogenetics Group (UKCCG). Oncogene. 2000;19(34):3902-13.
Arber DA, Orazi A, Hasserjian R, Thiele J, Borowitz MJ, Le Beau MM, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-405.
Bacher U, Schanz J, Braulke F, Haase D. Rare cytogenetic abnormalities in myelodysplastic syndromes. Mediterr J Hematol Infect Dis. 2015;7(1):e2015034.
