Myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes - Advances in treatment

Best Pract Res Clin Haematol. 2020 Jun;33(2):101130. doi: 10.1016/j.beha.2019.101130. Epub 2019 Dec 3.


Optimal treatment for myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) overlap syndromes remain to be defined and are currently extrapolated from MDS and MPN. The heterogeneity of these diseases and their rare occurrences add to this void. Supportive care therapies such as erythropoiesis stimulating agents, iron chelation and cytoreductive therapy do not have prospective evidence in these disorders and the only approved treatments, hypomethylating agents, are based on the inclusion of a small number of chronic myelomonocytic leukaemia patients in MDS predominant trials. While allogeneic stem cell transplant remains the only curative option, the median age at presentation (7th decade), comorbidities, risk of disease relapse, and transplant related morbidity and mortality, make this option accessible to < 10% of patients. The advent of next generation sequencing has better defined the genomic landscape and opened the doors for personalized medicine. Herein we focus on recent therapeutic advances and options in MDS/MPN overlap syndromes.

Keywords: Atypical chronic myeloid leukaemia; Chronic myelomonocytic leukaemia; Myelodysplastic syndrome; Myelodysplastic-myeloproliferative diseases.

Publication types

  • Review

MeSH terms

  • Antineoplastic Agents / therapeutic use*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive* / genetics
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive* / therapy
  • Myelodysplastic Syndromes* / genetics
  • Myelodysplastic Syndromes* / therapy
  • Precision Medicine*


  • Antineoplastic Agents