Prognostic scoring systems and risk stratification in myelodysplastic syndrome: focus on integration of molecular profile

References

• Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the world health organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391–2405.
   PubMed Web of Science ®Google Scholar
• National Cancer Institute [Internet]. Browse the SEER Cancer Statistics Review (CSR) 1975-2016. https://seer.cancer.gov/archive/csr/1975_2016/browse_csr.php?sectionSEL=30&pageSEL=sect_30_table.01
   Google Scholar
• Dayyani F, Conley AP, Strom SS, et al. Cause of death in patients with lower-risk myelodysplastic syndrome. Cancer. 2010;116(9):2174–2179.
   PubMed Web of Science ®Google Scholar
• Nachtkamp K, Stark R, Strupp C, et al. Causes of death in 2877 patients with myelodysplastic syndromes. Ann Hematol. 2016;95(6):937–944.
   PubMed Web of Science ®Google Scholar
• Steensma DP. Myelodysplastic syndromes current treatment algorithm 2018. Blood Cancer J. 2018;8(5):47.
   PubMed Web of Science ®Google Scholar
• Stone RM. How I treat patients with myelodysplastic syndromes. Blood. 2009;113(25):6296–6303.
   PubMed Web of Science ®Google Scholar
• Garcia-Manero G, Shan J, Faderl S, et al. A prognostic score for patients with lower risk myelodysplastic syndrome. Leukemia. 2008;22(3):538–543.
   PubMed Web of Science ®Google Scholar
• Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89(6):2079–2088.
   PubMed Web of Science ®Google Scholar
• Greenberg PL, Tuechler H, Schanz J, et al. Revised international prognostic scoring system for myelodysplastic syndromes. Blood. 2012;120(12):2454–2465.
   PubMed Web of Science ®Google Scholar
• Kantarjian H, O’Brien S, Ravandi F, et al. Proposal for a new risk model in myelodysplastic syndrome that accounts for events not considered in the original international prognostic scoring system. Cancer. 2008;113(6):1351–1361.
   PubMed Web of Science ®Google Scholar
• Benton CB, Khan M, Sallman D, et al. Prognosis of patients with intermediate risk IPSS-R myelodysplastic syndrome indicates variable outcomes and need for models beyond IPSS-R. Am J Hematol. 2018;93(10):1245–1253.
   PubMed Web of Science ®Google Scholar
• Pfeilstocker M, Tuechler H, Sanz G, et al. Time-dependent changes in mortality and transformation risk in MDS. Blood. 2016;128(7):902–910.
   PubMed Web of Science ®Google Scholar
• Malcovati L, Papaemmanuil E, Bowen DT, et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood. 2011;118(24):6239–6246.
   PubMed Web of Science ®Google Scholar
• Haase D, Stevenson KE, Neuberg D, et al. TP53 mutation status divides myelodysplastic syndromes with complex karyotypes into distinct prognostic subgroups. Leukemia. 2019;33(7):1747–1758.
   PubMed Web of Science ®Google Scholar
• Malcovati L, Karimi M, Papaemmanuil E, et al. SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts. Blood. 2015;126(2):233–241.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Nazha A, Narkhede M, Radivoyevitch T, et al. Incorporation of molecular data into the revised international prognostic scoring system in treated patients with myelodysplastic syndromes. Leukemia. 2016;30(11):2214–2220.
   PubMed Web of Science ®Google Scholar
• Bernard E, Tuechler H, Greenberg PL, et al. Molecular international prognosis scoring system for myelodysplastic syndromes. Paper presented at the American Society of Hematology Annual Meeting; 2021 December 11–14; Atlanta, GA.
   Google Scholar
• Garcia-Manero G, Chien KS, Montalban-Bravo G. Myelodysplastic syndromes: 2021 update on diagnosis, risk stratification and management. Am J Hematol. 2020;95(11):1399–1420.
   PubMed Web of Science ®Google Scholar
• Sekeres MA, Cutler C. How we treat higher-risk myelodysplastic syndromes. Blood. 2014;123(6):829–836.
   PubMed Web of Science ®Google Scholar
• Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002;100(7):2292–2302.
   PubMed Web of Science ®Google Scholar
• Malcovati L, Germing U, Kuendgen A, et al. Time-dependent prognostic scoring system for predicting survival and leukemic evolution in myelodysplastic syndromes. J Clin Oncol. 2007;25(23):3503–3510.
   PubMed Web of Science ®Google Scholar
• Komrokji RS, Corrales-Yepez M, Al Ali N, et al. Validation of the MD Anderson prognostic risk model for patients with myelodysplastic syndrome. Cancer. 2012;118(10):2659–2664.
   PubMed Web of Science ®Google Scholar
• 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. 2012;30(8):820–829.
   PubMed Web of Science ®Google Scholar
• Kubasch AS, Platzbecker U. Patient stratification in myelodysplastic syndromes: how a puzzle may become a map. Hematology Am Soc Hematol Educ Program. 2020;2020(1):418–425.
   PubMed Web of Science ®Google Scholar
• Neukirchen J, Lauseker M, Blum S, et al. Validation of the revised international prognostic scoring system (IPSS-R) in patients with myelodysplastic syndrome: a multicenter study. Leuk Res. 2014;38(1):57–64.
   PubMed Web of Science ®Google Scholar
• Moreno Berggren D, Folkvaljon Y, Engvall M, et al. Prognostic scoring systems for myelodysplastic syndromes (MDS) in a population-based setting: a report from the Swedish MDS register. Br J Haematol. 2018;181(5):614–627.
   PubMed Web of Science ®Google Scholar
• de Swart L, Smith A, Johnston TW, et al. Validation of the revised international prognostic scoring system (IPSS-R) in patients with lower-risk myelodysplastic syndromes: a report from the prospective European LeukaemiaNet MDS (EUMDS) registry. Br J Haematol. 2015;170(3):372–383.
   PubMed Web of Science ®Google Scholar
• Kawabata H, Tohyama K, Matsuda A, et al. Validation of the revised international prognostic scoring system in patients with myelodysplastic syndrome in Japan: results from a prospective multicenter registry. Int J Hematol. 2017;106(3):375–384.
   PubMed Web of Science ®Google Scholar
• Nazha A, Komrokji RS, Garcia-Manero G, et al. The efficacy of current prognostic models in predicting outcome of patients with myelodysplastic syndromes at the time of hypomethylating agent failure. Haematologica. 2016;101(6):e224–e227.
   PubMed Web of Science ®Google Scholar
• Zeidan AM, Sekeres MA, Garcia-Manero G, et al. Comparison of risk stratification tools in predicting outcomes of patients with higher-risk myelodysplastic syndromes treated with azanucleosides. Leukemia. 2016;30(3):649–657.
   PubMed Web of Science ®Google Scholar
• Al-Issa K, Madanat YF, Mukherjee S, et al. Model heterogeneity in predicting outcomes of patients with myelodysplastic syndromes (MDS). Blood. 2017;130:2972.
   Web of Science ®Google Scholar
• Papaemmanuil E, Gerstung M, Malcovati L, et al. Clinical and biological implications of driver mutations in myelodysplastic syndromes. Blood. 2013;122(22):3616–3627.
   PubMed Web of Science ®Google Scholar
• Haferlach T, Nagata Y, Grossmann V, et al. Landscape of genetic lesions in 944 patients with myelodysplastic syndromes. Leukemia. 2014;28(2):241–247.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Kosmider O, Gelsi-Boyer V, Cheok M, et al. TET2 mutation is an independent favorable prognostic factor in myelodysplastic syndromes (MDSs). Blood. 2009;114(15):3285–3291.
   PubMed Web of Science ®Google Scholar
• Bejar R, Lord A, Stevenson K, et al. TET2 mutations predict response to hypomethylating agents in myelodysplastic syndrome patients. Blood. 2014;124(17):2705–2712.
   PubMed Web of Science ®Google Scholar
• Hunter AM, Komrokji RS, Yun S, et al. Baseline and serial molecular profiling predicts outcomes with hypomethylating agents in myelodysplastic syndromes. Blood Adv. 2021;5(4):1017–1028.
   PubMed Web of Science ®Google Scholar
• Thol F, Kade S, Schlarmann C, et al. Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood. 2012;119(15):3578–3584.
   PubMed Web of Science ®Google Scholar
• Padua RA, Guinn BA, Al-Sabah AI, et al. RAS, FMS and p53 mutations and poor clinical outcome in myelodysplasias: a 10-year follow-up. Leukemia. 1998;12(6):887–892.
   PubMed Web of Science ®Google Scholar
• Bejar R, Papaemmanuil E, Haferlach T, et al. Somatic mutations in MDS patients are associated with clinical features and predict prognosis independent of the IPSS-R: analysis of combined datasets from the international working group for prognosis in MDS-Molecular committee. Blood. 2015;126(23):907–907.
   Web of Science ®Google Scholar
• Sallman DA, Komrokji R, Vaupel C, et al. Impact of TP53 mutation variant allele frequency on phenotype and outcomes in myelodysplastic syndromes. Leukemia. 2016;30(3):666–673.
   PubMed Web of Science ®Google Scholar
• Montalban-Bravo G, Kanagal-Shamanna R, Benton CB, et al. Genomic context and TP53 allele frequency define clinical outcomes in TP53-mutated myelodysplastic syndromes. Blood Adv. 2020;4(3):482–495.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Della Porta MG, Galli A, Bacigalupo A, et al. Clinical effects of driver somatic mutations on the outcomes of patients with myelodysplastic syndromes treated with allogeneic hematopoietic stem-cell transplantation. J Clin Oncol. 2016;34(30):3627–3637.
   PubMed Web of Science ®Google Scholar
• Lindsley RC, Saber W, Mar BG, et al. Prognostic mutations in myelodysplastic syndrome after stem-cell transplantation. N Engl J Med. 2017;376(6):536–547.
   PubMed Web of Science ®Google Scholar
• Yoshizato T, Nannya Y, Atsuta Y, et al. Genetic abnormalities in myelodysplasia and secondary acute myeloid leukemia: impact on outcome of stem cell transplantation. Blood. 2017;129(17):2347–2358.
   PubMed Web of Science ®Google Scholar
• Ball S, Aguirre LE, Jain AG, et al. Clinical characteristics and outcome of patients with EZH2-mutant myelodysplastic syndromes. Blood. 2021;138(1):1531–1531.
   Google Scholar
• Ganster C, Schaab R, Shirneshan K, et al. TP53 status and outcome in myelodysplastic syndromes with complex aberrant karyotypes. Hague (The Netherlands): European Hematology Association; 2020.
   Google Scholar
• Nagata Y, Zhao R, Awada H, et al. Machine learning demonstrates that somatic mutations imprint invariant morphologic features in myelodysplastic syndromes. Blood. 2020;136(20):2249–2262.
   PubMed Web of Science ®Google Scholar
• Haferlach T. Human and artificial intelligence to illuminate MDS. Blood. 2020;136(20):2243–2244.
   PubMed Web of Science ®Google Scholar