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Published on: October 3, 2018
Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/MPN-U): More than just a "catch-all" term?
Rory M Shallis1, Amer M Zeidan1
1Section of Hematology, Department of Internal Medicine, Yale University School of Medicine, New Haven, USA; Yale Cancer Center, New Haven, USA.
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.
Insights
Myelodysplastic syndrome/myeloproliferative neoplasm-unclassifiable (MDS/MPN-U) is evolving beyond a "wastebasket" diagnosis. Genomic insights are refining classifications and may lead to new diagnoses within MDS/MPN-U.
Area of Science:
- Hematology
- Oncology
- Genetics
Background:
- Myelodysplastic syndrome (MDS) and myeloproliferative neoplasms (MPN) can co-occur, leading to the MDS/MPN category.
- MDS/MPN-unclassifiable (MDS/MPN-U) includes cases not meeting criteria for other MDS/MPN sub-entities.
- Advances in understanding mutations are refining the classification of MDS/MPN-U.
Purpose of the Study:
- To review the evolving classification of MDS/MPN-U.
- To highlight the impact of molecular discoveries on MDS/MPN-U.
- To discuss the potential for future diagnostic refinement within MDS/MPN-U.
Main Methods:
- Review of current myeloid disease classifications.
- Analysis of clinicopathologic and genomic data.
- Case study examples illustrating diagnostic evolution.
Main Results:
- MDS/MPN-U is being redefined by specific genetic drivers.
- SF3B1 mutations now define MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T), previously part of MDS/MPN-U.
- Genomic understanding is crucial for classifying complex MDS/MPN cases.
Conclusions:
- MDS/MPN-U is transitioning from a provisional category to one with emerging distinct diagnoses.
- Continued research into MDS/MPN-U is expected to yield further classification refinements.
- Molecular profiling is key to accurately diagnosing and classifying MDS/MPN entities.
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