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What is MDS?

Defining MDS

Myelodysplastic syndromes (MDS), also known as myelodysplastic neoplasms, are characterized by the failure of bone marrow stem cells to mature and can lead to inefficient or incomplete hematopoiesis and peripheral cytopenias.1-3 In MDS, the most common cytopenia is anemia, followed by neutropenia and thrombocytopenia.3-5

Precise risk stratification of MDS requires the inclusion of molecular testing. The new IPSS-M validates the role of gene mutations in the risk assessment of MDS. Adoption of IPSS-M can improve prognostic accuracy for MDS.6

The risk of progression to AML varies among patients, and the level of risk is based on the outcome of their risk stratification assessment.6 For high-risk patients with MDS, the proportion of patients at risk of progression to AML is reported to be 30% to 50%.3,6

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Epidemiology of MDS

In the United States, ~16,000 people are diagnosed with MDS each year.7-9 The risk of developing MDS increases as the population ages with the median age being 70 years old at diagnosis.2

Identifying ~4 in 100,000 people graphic Identifying ~4 in 100,000 people graphic

The incidence of MDS increases

~6-fold

in patients who are 65 and older

(25 per 100,000) making these patients more vulnerable to MDS.1

MDS is nearly 2 times more likely in men than women1

Rate of MDS in men vs. women graphic Rate of MDS in men vs. women graphic

Rate per 100,000

The NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) notes that as the population ages, the incidence of AML along with MDS is rising.10

In MDS, relative survival rates decrease with age11

MDS relative survival rate by age graphic MDS relative survival rate by age graphic

5-Year relative survival (%)

The role of IDH1 mutations in MDS

IDH1 mutations in patients with MDS are associated with poorer survival12

The isocitrate dehydrogenase-1 (IDH1) gene encodes for the protein IDH1, an enzyme that participates in the citric acid cycle. It catalyzes the oxidative decarboxylation of isocitrate to alpha-ketoglutarate12,13
IDH1 mutations are recurring molecular abnormalities with a frequency of 4% in MDS and 8% in patients who progress to AML12
Mutated IDH1 (mIDH1) is associated with a high rate of leukemic transformation and poor event-free and overall survival rates12
Molecular testing of bone marrow and blood samples can be used to detect mIDH1 and other key mutations that are linked to poor prognosis and transformation to AML12,14

Impact of IDH1 mutations on overall survival outcomes12

Overall survival rate in IDH1 patients graph Overall survival rate in IDH1 patients graph
Overall survival in patients with mIDH1 was significantly lower compared to patients with wildtype IDH1 (HR, 3.20; 95% CI, 1.47-6.99; P=0.002)12

In MDS patients with mIDH1, the 2-year survival rate decreased by nearly 4-fold12

Wild type icon - 52%

Wild-type IDH1

Wild type icon - 14%

mIDH1

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AML, acute myeloid leukemia; IPSS-M, International Prognostic Scoring System-Molecular.

References: 1. Sekeres MA, Taylor J. Diagnosis and treatment of myelodysplastic syndromes: a review. JAMA. 2022;328(9):872-880. doi:10.1001/jama.2022.14578 2. Aster JC. Clinical manifestations and diagnosis of myelodysplastic syndromes (MDS). UpToDate. Updated March 24, 2023. Accessed July 19, 2023. https://www.uptodate.com/contents/clinical-manifestations-diagnosis-and-classification-of-myelodysplastic-syndromes-mds 3. Kantarjian H, Giles F, List A, et al. The incidence and impact of thrombocytopenia in myelodysplastic syndromes. Cancer. 2007;109(9):1705-1714. doi:10.1002/cncr.22602 4. Gangat N, Patnaik MM, Tefferi A. Myelodysplastic syndromes: contemporary review and how we treat. Am J Hematol. 2016;91(1):76-89. doi:10.1002/ajh.24253 5. Toma A, Fenaux P, Dreyfus F, Cordonnier C. Infections in myelodysplastic syndromes. Haematologica. 2012;97(10):1459-1470. doi:10.3324/haematol.2012.063420 6. Bernard E, Tuechler H, Greenberg PL, et al. Molecular international prognostic scoring system for myelodysplastic syndromes. NEJM Evid. 2022;1(7). doi:https://doi.org/10.1056/EVIDoa2200008 7. Myelodysplastic syndromes (MDS): recent trends in SEER age-adjusted incidence rates, 2001-2020. National Cancer Institute Surveillance, Epidemiology, and End Results Program. Updated June 8, 2023. Accessed August 14, 2023. https://seer.cancer.gov/statistics-network/explorer/application.html?site=409&data_type=1&graph_type=2&compareBy=age_range&chk_age_range_1=1&chk_age_range_16=16&chk_age_range_62=62&chk_age_range_122=122&chk_age_range_160=160&chk_age_range_166=166&hdn_rate_type=1&sex=1&race=1&hdn_stage=101&advopt_precision=1&advopt_show_ci=on&hdn_view=1&advopt_show_apc=on&advopt_display=1#resultsRegion1 8. Projected 5-year age groups and sex composition of the population: projections for the United States: 2017-2060. United States Census Bureau, Population Division. Released March 2018. Revised September 2018. Accessed August 14, 2023. https://www.census.gov/data/tables/2017/demo/popproj/2017-summary-tables.html 9. Data on file. Servier Pharmaceuticals LLC. 10. Referenced with permission from the NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) for Acute Myeloid Leukemia V.4.2023. © National Comprehensive Cancer Network, Inc. 2023. All rights reserved. Accessed August 14, 2023. To view the most recent and complete version of the guideline, go online to NCCN.org. 11. Myelodysplastic syndromes: recent trends in SEER relative survival rates, 2000-2020. National Cancer Institute Surveillance, Epidemiology, and End Results Program. Updated June 8, 2023. Accessed July 19, 2023. https://seer.cancer.gov/statistics-network/explorer/application.html?site=96&data_type=4&graph_type=2&compareBy=age_range&chk_age_range_1=1&relative_ survival_interval=5&sex=1&race=1&hdn_stage=101&advopt_precision=1&advopt_show_ci=on&hdn_view=0&advopt_show_apc=on&advopt_display=2#resultsRegion0 12. Thol F, Weissinger EM, Krauter J, et al. IDH1 mutations in patients with myelodysplastic syndromes are associated with an unfavorable prognosis. Haematologica. 2010;95(10):1668-1674. doi:10.3324/haematol.2010.025494 13. Roboz GJ, DiNardo CD, Stein EM, et al. Ivosidenib induces deep durable remissions in patients with newly diagnosed IDH1-mutant acute myeloid leukemia. Blood. 2020;135(7):463-471. doi:10.1182/blood.2019002140 14. IDH1 Abbott RealTime PCR diagnostic test. Versiti Diagnostic Laboratories. 2019. Accessed May 15, 2023. https://media.versiti.org/versiti/versiti/media/downloadables/diagnostic-labs/test-descriptions/idh1_abbott_realtime_pcr.pdf