SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome
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 myelomon...
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doaj-6c190a3244a348d2bc8275a6851cd63e2020-11-24T20:58:12ZengBMCBiomarker Research2050-77712017-12-01511510.1186/s40364-017-0113-8SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndromeKatherine Linder0Chaitanya Iragavarapu1Delong Liu2Department of Medicine, New York Medical College and Westchester Medical CenterDepartment of Medicine, New York Medical College and Westchester Medical CenterDepartment of Medicine, New York Medical College and Westchester Medical CenterAbstract 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.http://link.springer.com/article/10.1186/s40364-017-0113-8SETBP1MyelodysplasiaMyeloproliferative syndrome |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Katherine Linder Chaitanya Iragavarapu Delong Liu |
spellingShingle |
Katherine Linder Chaitanya Iragavarapu Delong Liu SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome Biomarker Research SETBP1 Myelodysplasia Myeloproliferative syndrome |
author_facet |
Katherine Linder Chaitanya Iragavarapu Delong Liu |
author_sort |
Katherine Linder |
title |
SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome |
title_short |
SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome |
title_full |
SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome |
title_fullStr |
SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome |
title_full_unstemmed |
SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome |
title_sort |
setbp1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome |
publisher |
BMC |
series |
Biomarker Research |
issn |
2050-7771 |
publishDate |
2017-12-01 |
description |
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. |
topic |
SETBP1 Myelodysplasia Myeloproliferative syndrome |
url |
http://link.springer.com/article/10.1186/s40364-017-0113-8 |
work_keys_str_mv |
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1716786139784806400 |