Traipsing Through Muddy Waters: A Critical Review of the Myelodysplastic Syndrome/Myeloproliferative Neoplasm (MDS/MPN) Overlap Syndromes

Hematol Oncol Clin North Am. 2021 Apr;35(2):337-352. doi: 10.1016/j.hoc.2020.12.005. Epub 2021 Jan 23.

Abstract

Myelodysplastic syndrome/Myeloproliferative neoplasms (MDS/MPNs) are molecularly complex, clinically heterogeneous diseases that exhibit proliferative and dysplastic features. Diagnostic criteria use clinical, pathologic, and genomic features to distinguish between disease entities, though considerable clinical and genetic overlap persists. MDS/MPNs are associated with a poor prognosis, save for MDS/MPN with ring sideroblasts and thrombocytosis, which can behave more indolently. The current treatment approach is risk-adapted and symptom-directed and largely extrapolated from experience in MDS or MPN. Gene sequencing has demonstrated frequent mutations involving signaling, epigenetic, and splicing pathways, which present numerous therapeutic opportunities for clinical investigation.

Keywords: Atypical; Myelodysplastic; Myelomonocytic; Myeloproliferative; Overlap; Ring sideroblasts.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Mutation
  • Myelodysplastic Syndromes* / diagnosis
  • Myelodysplastic Syndromes* / genetics
  • Myelodysplastic Syndromes* / therapy
  • Myelodysplastic-Myeloproliferative Diseases* / diagnosis
  • Myelodysplastic-Myeloproliferative Diseases* / genetics
  • Myelodysplastic-Myeloproliferative Diseases* / therapy
  • Neoplasms*
  • Syndrome