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Myelodysplastic syndrome (clinical)

Last edited: 4/14/2026

Overview

Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematopoietic disorders characterized by ineffective hematopoiesis, often leading to cytopenias and a risk of progression to acute myeloid leukemia (AML). 114

Diagnosis

  • Clinical Presentation: Peripheral cytopenias, often with dysplasia in ≥1 blood cell lineages. 114
  • Bone Marrow Examination: Essential for assessing cellularity, dysplasia, and blast percentage. 114
  • Genetic and Cytogenetic Analysis: Critical for subclassification; includes karyotyping, SNP arrays, and targeted sequencing of key genes. 1712
  • Prognostic Scoring: Use of systems like the International Prognostic Scoring System (IPSS) to guide management. 812
  • Diagnostic Challenges: Adoption of WHO classification varies; clear subtypes documented in only about half of cases. 13

    • Management

  • First-Line Treatments:
    • - Hypomethylating Agents: Azacitidine improves symptoms, reduces transfusion needs, and may improve survival. 16 - Supportive Care: Focus on managing cytopenias, infections, and anemia; erythropoietin may be considered despite economic constraints. 15
  • Adjunctive Therapies:
    • - Targeted Therapies: Emerging strategies based on molecular profiling, though specific drug classes and doses vary. 8 - Immunomodulatory Drugs: Consideration in specific genetic contexts, e.g., GATA2 mutations. 9

    Special Populations

  • Pediatrics: MDS occurs in children, both de novo and secondary, often linked to inherited bone marrow failure syndromes. 6
  • Elderly: Increased prevalence; management focuses heavily on supportive care due to comorbidities and treatment tolerance. 14
  • Comorbidities: Presence of conditions like monosomy 7 can affect immune function and prognosis, necessitating tailored approaches. 18

    • Key Recommendations

  • Utilize Comprehensive Diagnostic Assessment: Include detailed genetic, cytogenetic, and molecular evaluations for accurate subclassification and prognostication. (Evidence: Strong 1712)
  • Apply Prognostic Scoring Systems: Use IPSS or similar tools to guide treatment decisions and risk stratification. (Evidence: Strong 812)
  • Consider Hypomethylating Agents Early: For high-risk MDS patients, initiate hypomethylating agents like azacitidine to improve outcomes. (Evidence: Moderate 16)
  • Tailor Management Based on Genetic Subtypes: Incorporate specific genetic findings (e.g., GATA2 mutations) to personalize therapy. (Evidence: Moderate 9)
  • Supportive Care is Essential: Focus on managing cytopenias and infections, with erythropoietin therapy considered despite economic considerations. (Evidence: Moderate 15)

    • References

    1 Aakash F, Gisriel SD, Zeidan AM, Bennett JM, Bejar R, Bewersdorf JP et al.. Contemporary Approach to the Diagnosis and Classification of Myelodysplastic Neoplasms/Syndromes-Recommendations From the International Consortium for Myelodysplastic Neoplasms/Syndromes (MDS [icMDS]). Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2024. link 2 Mojica AM, Wolfe AD. A Case of Myelofibrosis and Myelodysplasia Identified Following Exposure to Isotretinoin. Journal of pediatric hematology/oncology 2021. link 3 . Myelodysplastic Syndrome Splicing Factor Mutations Induce R-Loops. Cancer discovery 2018. link 4 Shimizu N, Hasunuma H, Watanabe Y, Matsuzawa Y, Iwashita Y, Tatsuno I et al.. The Simultaneous Elevation of Oxidative Stress Markers and Wilms' Tumor 1 Gene during the Progression of Myelodysplastic Syndrome. Internal medicine (Tokyo, Japan) 2016. link 5 . Telomere Dysfunction-Induced DNA Damage Drives Myelodysplastic Syndrome. Cancer discovery 2015. link 6 Glaubach T, Robinson LJ, Corey SJ. Pediatric myelodysplastic syndromes: they do exist!. Journal of pediatric hematology/oncology 2014. link 7 Bejar R, Abdel-Wahab O. The importance of subclonal genetic events in MDS. Blood 2013. link 8 Santini V. Novel therapeutic strategies: hypomethylating agents and beyond. Hematology. American Society of Hematology. Education Program 2012. link 9 Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J et al.. Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. Blood 2012. link 10 Dührsen U, Kratz CP, Flotho C, Lauenstein T, Bommer M, König E et al.. Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 (G208R) mutation. Annals of hematology 2011. link 11 Pilo F, Di Tucci AA, Dessalvi P, Caddori A, Angelucci E. The evolving clinical scenario of myelodysplastic syndrome: the need for a complete and up to date upfront diagnostic assessment. European journal of internal medicine 2010. link 12 Chun K, Hagemeijer A, Iqbal A, Slovak ML. Implementation of standardized international karyotype scoring practices is needed to provide uniform and systematic evaluation for patients with myelodysplastic syndrome using IPSS criteria: An International Working Group on MDS Cytogenetics Study. Leukemia research 2010. link 13 Abel GA, Van Bennekom CM, Stone RM, Anderson TE, Kaufman DW. Classification of the myelodysplastic syndrome in a national registry of recently diagnosed patients. Leukemia research 2010. link 14 Koppel A, Schiller G. Myelodysplastic syndrome: an update on diagnosis and therapy. Current oncology reports 2008. link 15 Hamblin TJ. The management of anemia in the myelodysplastic syndrome. Leukemia research 2005. link 16 . Azacitine (vidaza) for myelodysplastic syndrome. The Medical letter on drugs and therapeutics 2005. link 17 Kapur K, Tseng CW, Rastegar A, Carter GM, Keeler E. Medicare calibration of the clinically detailed risk information system for cost. Health care financing review 2003. link 18 Tan NC, Lee KH, Liu TC. Myelodysplastic syndrome with monosomy 7 and pulmonary aspergillosis. Singapore medical journal 2000. link 19 Manley R, Cochrane J, Patton WN. Polyploidy in myelodysplastic syndrome: a case report. Cancer genetics and cytogenetics 1998. link00058-2) 20 Pavord S, Sivakumaran M, Furber P, Mitchell V. Cyclical thrombocytopenia as a rare manifestation of myelodysplastic syndrome. Clinical and laboratory haematology 1996. link 21 Solé F, Caballín MR, Coll MD, Woessner S, Besses C, Palou L et al.. Isochromosome 14q in myeloid dysplastic disorder. Cancer genetics and cytogenetics 1991. link90042-s) 22 Shibuya A, Tomiyama J, Nakazawa M, Abe T, Kondo I. A double Philadelphia chromosome in myelodysplastic syndrome. Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society 1989. link 23 Hamblin TJ. Myelodysplasia. British journal of hospital medicine 1987. link 24 Bursztyn B, Douer D, Ramot B. Chronic myelomonocytic leukemia following refractory anemia with sideroblasts: report of two cases. European journal of haematology 1987. link 25 Pedersen B, Kerndrup G. Another case of myelodysplastic syndrome with a chromosome mode in the tetraploid range. Cancer genetics and cytogenetics 1986. link90416-4) 26 Heim S, Mitelman F, Jerntorp P. A case of dysmyelopoietic syndrome with hypotetraploid karyotype. Cancer genetics and cytogenetics 1985. link90068-8) 27 Bested AC, Cheng G, Pinkerton PH, Kassim O, Senn JS. Idiopathic acquired sideroblastic anaemia transforming to acute myelosclerosis. Journal of clinical pathology 1984. link 28 Kass L. Affinity of chronic erythremic myelosis erythroblast nuclei for gold chloride. Stain technology 1979. link

    Original source

    1. [1]
      Contemporary Approach to the Diagnosis and Classification of Myelodysplastic Neoplasms/Syndromes-Recommendations From the International Consortium for Myelodysplastic Neoplasms/Syndromes (MDS [icMDS]). — Aakash F, Gisriel SD, Zeidan AM, Bennett JM, Bejar R, Bewersdorf JP et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc (2024)
    2. [2]
      A Case of Myelofibrosis and Myelodysplasia Identified Following Exposure to Isotretinoin. — Mojica AM, Wolfe AD Journal of pediatric hematology/oncology (2021)
    3. [3]
      Myelodysplastic Syndrome Splicing Factor Mutations Induce R-Loops. Cancer discovery (2018)
    4. [4]
      The Simultaneous Elevation of Oxidative Stress Markers and Wilms' Tumor 1 Gene during the Progression of Myelodysplastic Syndrome. — Shimizu N, Hasunuma H, Watanabe Y, Matsuzawa Y, Iwashita Y, Tatsuno I et al. Internal medicine (Tokyo, Japan) (2016)
    5. [5]
      Telomere Dysfunction-Induced DNA Damage Drives Myelodysplastic Syndrome. Cancer discovery (2015)
    6. [6]
      Pediatric myelodysplastic syndromes: they do exist! — Glaubach T, Robinson LJ, Corey SJ Journal of pediatric hematology/oncology (2014)
    7. [7]
      The importance of subclonal genetic events in MDS. — Bejar R, Abdel-Wahab O Blood (2013)
    8. [8]
      Novel therapeutic strategies: hypomethylating agents and beyond. — Santini V Hematology. American Society of Hematology. Education Program (2012)
    9. [9]
      Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature. — Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J et al. Blood (2012)
    10. [10]
      Long-term outcome of hemizygous and heterozygous carriers of a germline GATA1 (G208R) mutation. — Dührsen U, Kratz CP, Flotho C, Lauenstein T, Bommer M, König E et al. Annals of hematology (2011)
    11. [11]
      The evolving clinical scenario of myelodysplastic syndrome: the need for a complete and up to date upfront diagnostic assessment. — Pilo F, Di Tucci AA, Dessalvi P, Caddori A, Angelucci E European journal of internal medicine (2010)
    12. [12]
      Implementation of standardized international karyotype scoring practices is needed to provide uniform and systematic evaluation for patients with myelodysplastic syndrome using IPSS criteria: An International Working Group on MDS Cytogenetics Study. — Chun K, Hagemeijer A, Iqbal A, Slovak ML Leukemia research (2010)
    13. [13]
      Classification of the myelodysplastic syndrome in a national registry of recently diagnosed patients. — Abel GA, Van Bennekom CM, Stone RM, Anderson TE, Kaufman DW Leukemia research (2010)
    14. [14]
      Myelodysplastic syndrome: an update on diagnosis and therapy. — Koppel A, Schiller G Current oncology reports (2008)
    15. [15]
      The management of anemia in the myelodysplastic syndrome. — Hamblin TJ Leukemia research (2005)
    16. [16]
      Azacitine (vidaza) for myelodysplastic syndrome. The Medical letter on drugs and therapeutics (2005)
    17. [17]
      Medicare calibration of the clinically detailed risk information system for cost. — Kapur K, Tseng CW, Rastegar A, Carter GM, Keeler E Health care financing review (2003)
    18. [18]
      Myelodysplastic syndrome with monosomy 7 and pulmonary aspergillosis. — Tan NC, Lee KH, Liu TC Singapore medical journal (2000)
    19. [19]
      Polyploidy in myelodysplastic syndrome: a case report. — Manley R, Cochrane J, Patton WN Cancer genetics and cytogenetics (1998)
    20. [20]
      Cyclical thrombocytopenia as a rare manifestation of myelodysplastic syndrome. — Pavord S, Sivakumaran M, Furber P, Mitchell V Clinical and laboratory haematology (1996)
    21. [21]
      Isochromosome 14q in myeloid dysplastic disorder. — Solé F, Caballín MR, Coll MD, Woessner S, Besses C, Palou L et al. Cancer genetics and cytogenetics (1991)
    22. [22]
      A double Philadelphia chromosome in myelodysplastic syndrome. — Shibuya A, Tomiyama J, Nakazawa M, Abe T, Kondo I Nihon Ketsueki Gakkai zasshi : journal of Japan Haematological Society (1989)
    23. [23]
      Myelodysplasia. — Hamblin TJ British journal of hospital medicine (1987)
    24. [24]
      Chronic myelomonocytic leukemia following refractory anemia with sideroblasts: report of two cases. — Bursztyn B, Douer D, Ramot B European journal of haematology (1987)
    25. [25]
      Another case of myelodysplastic syndrome with a chromosome mode in the tetraploid range. — Pedersen B, Kerndrup G Cancer genetics and cytogenetics (1986)
    26. [26]
      A case of dysmyelopoietic syndrome with hypotetraploid karyotype. — Heim S, Mitelman F, Jerntorp P Cancer genetics and cytogenetics (1985)
    27. [27]
      Idiopathic acquired sideroblastic anaemia transforming to acute myelosclerosis. — Bested AC, Cheng G, Pinkerton PH, Kassim O, Senn JS Journal of clinical pathology (1984)
    28. [28]
      Affinity of chronic erythremic myelosis erythroblast nuclei for gold chloride. — Kass L Stain technology (1979)
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