Vol 53, No 1 (2022)
Guidelines / Expert consensus
Published online: 2021-12-31
Diagnosis of myelodysplastic syndromes in Poland: Polish Adult Leukemia Group (PALG) 2021 recommendations
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Acta Haematol Pol 2022;53(1):3-18.
Abstract
Myelodysplastic syndromes (MDS) are a heterogeneous group of neoplastic diseases of the hematopoietic cells manifested by ineffective hematopoiesis and a tendency to transform into acute myeloid leukemia. MDS should be considered in the differential diagnosis of cytopenia, especially in the elderly. This article presents the recommendations of MDS experts of the Polish Adult Leukemia Group (PALG) for the diagnosis of myelodysplastic syndromes. We present current classifications and prognostic indices, as well as diagnostic examinations recommended for MDS: cytological, histopathological, immunophenotypic, cytogenetic and molecular tests. The aim of the study is to implement up-to-date knowledge about myelodysplastic syndromes into routine clinical practice, from the diagnosis of cytopenia to the specific diagnosis and prognosis in MDS patients.
Keywords: myelodysplastic syndromesdiagnosisrecommendations
References
- Mądry K, Machowicz R, Waszczuk-Gajda A, et al. Demographic, hematologic, and clinical features of myelodysplastic syndrome patients: results from the First Polish Myelodysplastic Syndrome Registry. Acta Haematol. 2015; 134(2): 125–134.
- Drozd-Sokołowska JE, Mądry K, Waszczuk-Gajda A, et al. Are myelodysplastic syndromes underdiagnosed in Poland? A report by the Polish Adult Leukaemia Group. Eur J Haematol. 2017; 98(2): 154–159.
- Ma X, Does M, Raza A, et al. Myelodysplastic syndromes: incidence and survival in the United States. Cancer. 2007; 109(8): 1536–1542.
- Komrokji RS, Kulasekararaj A, Al Ali NH, et al. Autoimmune diseases and myelodysplastic syndromes. Am J Hematol. 2016; 91(5): E280–E283.
- Goldberg SL, Chen Er, Corral M, et al. Incidence and clinical complications of myelodysplastic syndromes among United States Medicare beneficiaries. J Clin Oncol. 2010; 28(17): 2847–2852.
- Della Porta MG, Travaglino E, Boveri E, et al. Rete Ematologica Lombarda (REL) Clinical Network. Minimal morphological criteria for defining bone marrow dysplasia: a basis for clinical implementation of WHO classification of myelodysplastic syndromes. Leukemia. 2015; 29(1): 66–75.
- Valent P, Orazi A, Steensma DP, et al. Proposed minimal diagnostic criteria for myelodysplastic syndromes (MDS) and potential pre-MDS conditions. Oncotarget. 2017; 8(43): 73483–73500.
- Valent P. ICUS, IDUS, CHIP and CCUS: diagnostic criteria, separation from MDS and clinical implications. Pathobiology. 2019; 86(1): 30–38.
- Hasserjiann R, Orazi A, Brunning R. et al. Myelodyslastic syndromes: overview. In: Swerdlow S, Campo E, Harris N. ed. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, revised 4th ed. Vol. 2. International Agency for Research on Cancer, Lyon 2017: 98–106.
- Schanz J, Tüchler H, Solé 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. 2012; 30(8): 820–829.
- Cherry AM, Brockman SR, Paternoster SF, et al. Comparison of interphase FISH and metaphase cytogenetics to study myelodysplastic syndrome: an Eastern Cooperative Oncology Group (ECOG) study. Leuk Res. 2003; 27(12): 1085–1090.
- Ogata K, Della Porta MG, Malcovati L, et al. Diagnostic utility of flow cytometry in low-grade myelodysplastic syndromes: a prospective validation study. Haematologica. 2009; 94(8): 1066–1074.
- van de Loosdrecht AA, Westers TM. Cutting edge: flow cytometry in myelodysplastic syndromes. J Natl Compr Canc Netw. 2013; 11(7): 892–902.
- Porwit A, van de Loosdrecht AA, Bettelheim P, 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. 2014; 28(9): 1793–1798.
- Zheng G, Chen P, Pallavajjalla A, et al. The diagnostic utility of targeted gene panel sequencing in discriminating etiologies of cytopenia. Am J Hematol. 2019; 94(10): 1141–1148.
- Papaemmanuil E, Gerstung M, Malcovati L, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013; 122(22): 3616–3627.
- Haferlach T, Nagata Y, Grossmann V, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014; 28(2): 241–247.
- Malcovati L, Stevenson K, Papaemmanuil E, et al. SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS. Blood. 2020; 136(2): 157–170.
- Bernard E, Nannya Y, Hasserjian RP, et al. Implications of TP53 allelic state for genome stability, clinical presentation and outcomes in myelodysplastic syndromes. Nat Med. 2020; 26(10): 1549–1556.
- University of Chicago Hematopoietic Malignancies Cancer Risk Team. How I diagnose and manage individuals at risk for inherited myeloid malignancies. Blood. 2016; 128(14): 1800–1813.
- Kraft IL, Godley LA, Kraft IL, et al. Identifying potential germline variants from sequencing hematopoietic malignancies. Blood. 2020; 136(22): 2498–2506.
- Peterson L, Bloomfield C, Niemeyer C, Godley L. et al. Myeloid neolasms with germline redisosition. In: Swerdlow S, Camo E, Harris N. et al. ed. WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, revised 4th ed. Vol. 2. International Agency for Research on Cancer, Lyon 2017: 121–128.
- Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997; 89(6): 2079–2088.
- Greenberg PL, Tuechler H, Schanz J, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012; 120(12): 2454–2465.
- Della Porta MG, Malcovati L, Strupp C, et al. Risk stratification based on both disease status and extra-hematologic comorbidities in patients with myelodysplastic syndrome. Haematologica. 2011; 96(3): 441–449.
- Malcovati L, Porta MG, Pascutto C, et al. Prognostic factors and life expectancy in myelodysplastic syndromes classified according to WHO criteria: a basis for clinical decision making. J Clin Oncol. 2005; 23(30): 7594–7603.
- Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011; 364(26): 2496–2506.