Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U): More than just a "catch-all" term?

Best Pract Res Clin Haematol. 2020 Jun;33(2):101132. doi: 10.1016/j.beha.2019.101132. Epub 2019 Dec 6.

Abstract

The clinicopathology of MDS and MPN are not mutually exclusive and for this reason the category of myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN) exists. Several sub-entities have been included under the MDS/MPN umbrella, including MDS/MPN-unclassifiable (MDS/MPN-U) for those cases whose morphologic and clinical phenotype do not meet criteria to be classified as any other MDS/MPN sub-entity. Though potentially regarded as a wastebasket diagnosis, since its integration into myeloid disease classification, MDS/MPN-U has been refined with increasing understanding of the mutational and genomic events that drive particular clinicopathologic phenotypes, even within MDS/MPN-U. The prototypical example is the identification of SF3B1 mutations and its durable association with MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), an entity previously buried within, but now a separate category outside of MDS/MPN-U. Continued and enhanced study of those entities under MDS/MPN-U, a perhaps provisional category itself, is likely to progressively identify commonality between many "unclassifiables" to establish a new classifiable diagnosis.

Keywords: Myelodysplastic; Myeloproliferative; Overlap; Syndromes; Unclassifiable; Unclassified.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Humans
  • Myelodysplastic Syndromes / classification*
  • Myelodysplastic Syndromes / genetics
  • Myelodysplastic Syndromes / metabolism
  • Myelodysplastic Syndromes / therapy
  • Myelodysplastic-Myeloproliferative Diseases / classification*
  • Myelodysplastic-Myeloproliferative Diseases / genetics
  • Myelodysplastic-Myeloproliferative Diseases / metabolism
  • Myelodysplastic-Myeloproliferative Diseases / therapy