Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN)
Linsheng Zhang, MD, PhD
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MDS, MDS/MPN and MPN Tables - A comprehensive list of copy number alterations and CN-LOH detectable by CMA testing with strong diagnostic, prognostic and treatment implications in MDS, MDS/MPN and MPN. Tables derived from Kanagal-Shawanna et al., 2018 [PMID 30377088] with permission from Cancer Genetics. See MDS, MDS/MPN and MPN Tables: Recurrent Genomic Alterations Detected by Chromosomal Microarray.
No specific recurrent genetic abnormalities are identified for this category of myeloid neoplasms.
General Disease Overview / Description of Cancer Category
The MDS/MPNs include a category of myeloid malignancies with overlapping characteristics of myelodysplastic syndrome (MDS) and myeloproliferative neoplasm (MPN) at the time of initial presentation (disease onset).
WHO Classification Pages (Includes Links to Content)
- Chronic Myelomonocytic Leukemia (CMML)
- Atypical Chronic Myeloid Leukemia (aCML), BCR-ABL1 Negative
- Juvenile Myelomonocytic Leukemia (JMML)
- MDS/MPN with Ring Sideroblasts and Thrombocytosis (MDS/MPN-RS-T)
- MDS/MPN, Unclassifiable
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Features of MDS : normal or low blood cell counts; dysplastic changes
Features MPN : Elevated blood cell counts in at least one lineage; hypercellular bone marrow; hepatosplenomegaly
The blasts are < 20% in the blood (leukocytes) and bone marrow (nucleated cells).
Mutations in genes encoding encode components of RAS dependent pathways, and epigenetic regulators such as TET2 and ASXL1, are common, supporting clonal processes; however, diagnostic or specific mutations for this entity of myeloid neoplasms are not identified.
The following situations may have the same or similar clinical and laboratory presentations with MDS/MPN, however, they are exclude from this category:
- Previously diagnosed MPN developed cytopenia(s): classification must be based on initial presentation; avoid “reclassification”.
- Cases with well-defined fusions that can be classified otherwise: BCR-ABL1; fusion involving PDGFRA, PDGFRB, or FGFR1; or PCM1-JAK2.
- Arber DA, et al., (2017). Introduction and overview of the classification of myeloid neoplasms, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p23.
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*The hierarchical tumour classification structure displayed on this page is reproduced from the WHO Classification of Tumours with permission from the copyright holder, ©International Agency for Research on Cancer.