Myelodysplastic syndromes

Last updated: May 25, 2021

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Myelodysplastic syndromes (MDS) are a group of hematological cancers in which malfunctioning pluripotent stem cells lead to hypercellularity and dysplasia of the bone marrow. This, in turn, leads to cytopenia of one or more cell lines (thrombocytopenia, erythrocytopenia, leukocytopenia). Most cases of MDS have a primary, idiopathic etiology, while a minority of cases are secondary to an underlying cause. MDS usually affects elderly patients and has a slowly progressive course. Clinical features vary depending on the type of MDS and the affected cell lines, and may include signs of anemia (e.g., fatigue, weakness, pallor), recurrent infections, and/or petechial bleeding. Diagnosis of MDS requires blood tests, bone marrow biopsy, and possibly genetic analysis. While mild cases may be closely monitored, severe disease typically requires blood transfusions supplemented with erythropoietin, vitamins, and, in some cases, granulocyte colony-stimulating factor. Medical therapy (e.g., chemotherapy or immunosuppressants) may also help to manage the disease, but allogenous stem cell transplantation is the only curative treatment. In 30% of cases, the disease progresses to acute myeloid leukemia.

WHO Classification of Primary Myelodysplastic Syndromes [5][6]

  • The WHO classification distinguishes between six types of myelodysplastic syndromes, based on the number of dysplastic cell lines and the percentage of blasts in the bone marrow, among other criteria:
    • MDS with multilineage dysplasia (MDS-MLD; most common)
    • MDS with single lineage dysplasia (MDS-SLD)
    • MDS with ring sideroblasts (MDS-RS), with two subtypes:
      • MDS-RS with single lineage dysplasia (MDS-RS-SLD)
      • MDS-RS with multilineage dysplasia (MDS-RS-MLD)
    • MDS with excess blasts (MDS-EB), with two subtypes:
      • MDS-EB1
      • MDS-EB2
    • MDS with isolated del(5q) (rare)
    • MDS, unclassifiable (MDS-U; very rare)
  • WHO also has a clinical classification
    • Primary MDS: no identifiable cause
    • Secondary MDS: cause is known

The therapeutic approach depends on a patient's presentation, age, and comorbidities. More aggressive therapy (e.g., chemotherapy, stem cell transplantation) is generally reserved for younger, healthier patients. [7]

We list the most important complications. The selection is not exhaustive.

  1. 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): p.2391-2405. doi: 10.1182/blood-2016-03-643544 . | Open in Read by QxMD
  2. Types of Myelodysplastic Syndromes. Updated: January 22, 2018. Accessed: October 29, 2020.
  3. Steensma DP. Myelodysplastic Syndromes. Mayo Clinic Proceedings. 2015; 90 (7): p.969-983. doi: 10.1016/j.mayocp.2015.04.001 . | Open in Read by QxMD
  4. Lopez Rubio M, Anna Gaya A, Morado M, Carrasco V, Gonzalez Fernandez A, Villegas A. Relationship between myelodysplastic syndrome and paroxysmal nocturnal hemoglobinuria: Spanish Erythropathology Group and Spanish Paroxysmal Nocturnal Hemoglobinuria Working Group Experience. Blood. 2015; 126 : p.4546.
  5. Aster JC, Stone RM, Larson A, Rosmarin AG. Clinical Manifestations and Diagnosis of the Myelodysplastic Syndromes . In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. updated: November 30, 2016. Accessed: September 7, 2017.
  6. Myelodysplastic syndromes. Updated: August 1, 2015. Accessed: April 13, 2017.
  7. Treating Myelodysplastic Syndromes. . Accessed: October 30, 2020.
  8. Nicolaus Kröger. Allogeneic stem cell transplantation for elderly patients with myelodysplastic syndrome. Blood. 2012; 119 (24): p.5632-5639. doi: 10.1182/blood-2011-12-380162 . | Open in Read by QxMD
  9. Rollison DE, Shain KH, Lee J-H, et al. Subsequent primary malignancies and acute myelogenous leukemia transformation among myelodysplastic syndrome patients treated with or without lenalidomide. Cancer Med. 2016; 5 (7): p.1694-1701. doi: 10.1002/cam4.721 . | Open in Read by QxMD
  10. Types of Myelodysplastic Syndromes. Updated: July 2, 2015. Accessed: April 13, 2017.

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