Myelodysplastic/myeloproliferative neoplasms

Definition:

Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN). This group includes chronic myelomonocytic leukemia (CMML), its pediatric counterpart juvenile myelomonocytic leukemia (JMML), MDS/MPN with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T), atypical BCR-ABL1 negative chronic myeloid leukemia (aCML) and MDS/MPN- unclassifiable (MDS/MPN-u). Somatic mutations observed in MDS/MPN fall in 4 major categories, including signaling, splicing, epigenetic, and transcription gene mutations.

References:

[1]. Andreas Reiter, et al. Molecular basis of myelodysplastic/myeloproliferative neoplasms. Haematologica. 2009 Dec;94(12):1634-8. [Content Brief]

[2]. Brianna N Smith, et al. Challenges in Myelodysplastic/Myeloproliferative Neoplasms (MDS/MPN). Clin Lymphoma Myeloma Leuk. 2019 Jan;19(1):1-8. [Content Brief]

[3]. Katerina Zoi, et al. Molecular pathogenesis of atypical CML, CMML and MDS/MPN-unclassifiable. Int J Hematol. 2015 Mar;101(3):229-42. [Content Brief]

[4]. Michael W N Deininger, et al. Turning the tide in myelodysplastic/myeloproliferative neoplasms. Nat Rev Cancer. 2017 Jun 23;17(7):425-440. [Content Brief]

[5]. Swapna Thota, et al. Myelodysplastic and myeloproliferative neoplasms: updates on the overlap syndromes. Leuk Lymphoma. 2018 Apr;59(4):803-812. [Content Brief]

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