NYMC Faculty Publications
DOI
10.1186/s40364-017-0113-8
Journal Title
Biomarker Research
First Page
33
Document Type
Article
Publication Date
12-1-2017
Department
Medicine
Abstract
Myelodysplasia (MDS) /myeloproliferative neoplasm (MPN) overlap syndrome has been described since the 2001 WHO classification as disorders that have both proliferative and dysplastic changes simultaneously. Specific disorders include chronic myelomonocytic leukemia (CMML), juvenile myelomonocytic leukemia (JMML), BCR-ABL negative atypical chronic myeloid leukemia (aCML) and unclassifiable MDS/MPN (MPN/MDS-U). Recurrent gene mutations in these conditions have been described. Among them, SETBP1 mutations have been identified in up to 32% of aCML, 24% of JMML, 18% of CMML and 10% of MDS/MPN-U patients. The mutation hotspot lies in the amino acid residues 858-871 in the SETBP1 protein. SETBP1 mutations in MDS/MPN overlap syndrome is associated with accelerated transformation to leukemia and poor prognosis. In this review, we summarized the latest data on the role of SETBP1 mutations in the overlap syndrome. SETBP1 mutations may serve as a biomarker for the diagnosis and poor prognosis of the overlap syndrome.
Recommended Citation
Linder, K., Iragavarapu, C., & Liu, D. (2017). SETBP1 Mutations as a Biomarker for Myelodysplasia /Myeloproliferative Neoplasm Overlap Syndrome. Biomarker Research, 5, 33. https://doi.org/10.1186/s40364-017-0113-8
Publisher's Statement
Originally published in Biomarker Research 2017 5:33. The original material can be found here.
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
