The impact of SETBP1 mutations in neurological diseases and cancer

N Kohyanagi, T Ohama - Genes to Cells, 2023 - Wiley Online Library
SE translocation (SET) is a cancer‐promoting factor whose expression is upregulated in
many cancers. High SET expression positively correlates with a poor cancer prognosis …

[HTML][HTML] Research progress of additional pathogenic mutations in chronic neutrophilic leukemia

J Gao, S Han, B Deng, Y Deng, X Gao - Annals of Hematology, 2024 - Springer
Chronic neutrophilic leukemia (CNL) is a rare type of myeloproliferative neoplasm (MPN).
Due to its nonspecific clinical symptoms and lack of specific molecular markers, it was …

[HTML][HTML] SETBP1 is dispensable for normal and malignant hematopoiesis

A Tanaka, K Nishimura, W Saika, A Kon, Y Koike… - Leukemia, 2023 - nature.com
SETBP1 is a potential epigenetic regulator whose hotspot mutations preventing proteasomal
degradation are recurrently detected in myeloid malignancies with poor prognosis. It is …

[HTML][HTML] SETBP1 mutation determines sensitivity to immune checkpoint inhibitors in melanoma and NSCLC

F An, W Zhang, Y Guo, F Shi, Y Kong, L Tang… - Aging (Albany …, 2023 - ncbi.nlm.nih.gov
Abstract SET binding protein 1 (SETBP1) plays crucial roles in various biological processes;
however, its involvement in cancer immune checkpoint inhibitor (ICI) treatments has never …

The landscape of SETBP1 gene expression and transcription factor activity across human tissues

JH Whitlock, EJ Wilk, TC Howton, AD Clark… - Plos one, 2024 - journals.plos.org
The SET binding protein 1 (SETBP1) gene encodes a transcription factor (TF) involved in
various cellular processes. Variants in SETBP1 can result in three different diseases …

First-hit SETBP1 mutations cause a myeloproliferative disorder with bone marrow fibrosis

I Crespiatico, M Zaghi, C Mastini, D D'Aliberti, M Mauri… - Blood, 2024 - ashpublications.org
SETBP1 mutations are found in various clonal myeloid disorders. However, it is unclear
whether they can initiate leukemia, because SETBP1 mutations typically appear as later …

Co-occurring mutations in ASXL1, SRSF2, and SETBP1 define a subset of myelodysplastic/myeloproliferative neoplasm with neutrophilia

T Jain, AD Ware, WB Dalton, S Pasca, HL Tsai… - Leukemia Research, 2023 - Elsevier
Identification of genomic signatures with consistent clinicopathological features in
myelodysplastic/myeloproliferative neoplasm (MDS/MPN) is critical for improved diagnosis …

CSF3R mutated myeloid neoplasms: beyond chronic neutrophilic leukemia

A Mohamed, J Gao, YH Chen, Y Abaza, J Altman… - Human Pathology, 2024 - Elsevier
CSF3R activating mutation is a genetic hallmark of chronic neutrophilic leukemia (CNL), and
is also present in a subset of atypical chronic myeloid leukemia (aCML), but infrequent in …

[HTML][HTML] Case report: Safety and efficacy of synergistic treatment using selinexor and azacitidine in patients with atypical chronic myeloid leukemia with resistance to …

L Liu, X Song, W Dong, Z Li, D Guo - Frontiers in Oncology, 2024 - frontiersin.org
Background Atypical chronic myeloid leukemia (aCML) is a BCR:: ABL1 negative
myelodysplastic/myeloproliferative neoplasm with poor overall survival. Some patients can …

A novel colony stimulating factor 3 receptor activating mutation identified in a patient with chronic neutrophilic leukemia

BN Maniaci, J Chung, P Sanz-Altamira… - …, 2022 - pmc.ncbi.nlm.nih.gov
Activating mutations in the extracellular domain of colony stimulating factor 3 receptor
(CSF3R, aka GCSFR) are present in an overwhelming majority of patients with chronic …