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Articles de revues sur le sujet « SETBP1 »

Auteur : Grafiati

Publié le 9 mars 2023

Mis à jour le 31 juillet 2025

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1

Carlson, Hanqian L., Samantha Tauchmann, Thai Nguyen, et al. "SETBP1 Regulates Myst Acetyltransferase Complexes to Drive a Leukemogenic Gene Expression Program." Blood 144, Supplement 1 (2024): 3143. https://doi.org/10.1182/blood-2024-203971.

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Mutations in set binding protein 1 (SETBP1) are frequent in non-classical myeloproliferative disorders and are strongly associated with adverse prognosis. SETBP1 mutations are found in ~45% of chronic neutrophilic leukemia, 24% of atypical chronic myeloid leukemia, 4-15% of chronic myelomonocytic leukemia, and ~30% of juvenile myelomonocytic leukemia cases. Despite strong prognostic significance, we lack a comprehensive understanding of the oncogenic mechanism of SETBP1 mutations and have no therapies that target them. SETBP1 is a nuclear protein that interacts with chromatin. SETBP1 mutations

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Nguyen, Nhu, Kristbjorn Orri Gudmundsson, Anthony R. Soltis, et al. "Recruitment of MLL1 Complex Is Essential for SETBP1 to Induce Myeloid Transformation." Blood 138, Supplement 1 (2021): 1147. http://dx.doi.org/10.1182/blood-2021-152825.

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Abstract Abnormal activation of SETBP1 due to overexpression or missense mutations occurs frequently in various myeloid neoplasms and associates with poor prognosis. Direct activation of Hoxa9/Hoxa10/Myb transcription by SETBP1 and its missense mutants is essential for their transforming capability; however, the underlying mechanisms for such activation remain elusive. We found that knockdown of Mll1 in mouse myeloid progenitors immortalized by SETBP1 or its missense mutant SETBP1(D/N) caused significant reduction in the mRNA levels of Hoxa9/Hoxa10/Myb, suggesting that Mll1 is critical for the

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Pacharne, Suruchi, Oliver M. Dovey, Jonathan L. Cooper, et al. "SETBP1 overexpression acts in the place of class-defining mutations to drive FLT3-ITD–mutant AML." Blood Advances 5, no. 9 (2021): 2412–25. http://dx.doi.org/10.1182/bloodadvances.2020003443.

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Abstract Advances in cancer genomics have revealed genomic classes of acute myeloid leukemia (AML) characterized by class-defining mutations, such as chimeric fusion genes or in genes such as NPM1, MLL, and CEBPA. These class-defining mutations frequently synergize with internal tandem duplications in FLT3 (FLT3-ITDs) to drive leukemogenesis. However, ∼20% of FLT3-ITD–positive AMLs bare no class-defining mutations, and mechanisms of leukemic transformation in these cases are unknown. To identify pathways that drive FLT3-ITD mutant AML in the absence of class-defining mutations, we performed an

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Yang, Jingyi, Shanlan Mo, Xudong Wei, et al. "Heritable SETBP1 Mutations Associated with Myelodysplastic Syndrome and Acute Myeloid Leukemia." Blood 142, Supplement 1 (2023): 5684. http://dx.doi.org/10.1182/blood-2023-182788.

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Introduction The SET binding protein 1 (SETBP1) gene is an oncogene located on chromosome 18q12.3, which is related to DNA replication and gene transcription regulation. Variants in SETBP1 are involved in germline and somatic mutations, leading to extremely different pathologic consequences. Germline mutations in SETBP1 are associated with Schinzel-Giedion syndrome (SGS) and SETBP1 Haploinsufficiency Disorder. In contrast, somatic mutations in SETBP1 are linked with myeloid malignancies and clonal hematopoiesis. The vast majority of reported germline SETBP1 mutations were located in the SKI ho

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Kawashima, Nozomu, Yusuke Okuno, Yuko Sekiya, et al. "Generation of Cell Lines Harboring SETBP1 Mutations By the Crispr/Cas9 System." Blood 124, no. 21 (2014): 4622. http://dx.doi.org/10.1182/blood.v124.21.4622.4622.

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Abstract Introduction Recent advances in cancer genetics have led to the identification of somatic mutations in SET-binding protein 1 (SETBP1) in myeloid malignancies categorized as myeloproliferative neoplasm (MPN) and myelodysplastic syndromes (MDS). Heterozygous point mutations in SETBP1 are essentially found at a genomic level in myeloid malignancies, and the frequency of the mutated allele in cDNA suggests somatic heterozygosity without substantial imbalance in allelic expression. Thus, mutant SETBP1 presumably has a dominant altered biological activity. Most mutations in SETBP1 are locat

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Crespiatico, Ilaria, Mattia Zaghi, Cristina Mastini, et al. "First-hit SETBP1 mutations cause a myeloproliferative disorder with bone marrow fibrosis." Blood 143, no. 14 (2024): 1399–413. http://dx.doi.org/10.1182/blood.2023021349.

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Abstract 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 events during oncogenesis. To answer this question, we generated a mouse model expressing mutated SETBP1 in hematopoietic tissue: this model showed profound alterations in the differentiation program of hematopoietic progenitors and developed a myeloid neoplasm with megakaryocytic dysplasia, splenomegaly, and bone marrow fibrosis, prompting us to investigate SETBP1 mutations in a cohort of 36 triple-negative prima

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Pacharne, Suruchi, Oliver M. Dovey, Jonathan L. Cooper, et al. "Setbp1 Overexpression Acts in the Place of Class-Defining Somatic Mutations to Drive Mouse and Human FLT3-ITD-Mutant AMLs." Blood 136, Supplement 1 (2020): 31–32. http://dx.doi.org/10.1182/blood-2020-141743.

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Setbp1 overexpression acts in the place of class-defining somatic mutations to drive mouse and human FLT3-ITD-mutant AMLs Suruchi Pacharne,1,2 Oliver M. Dovey,1 Jonathan L. Cooper,1 Muxin Gu,1,2 MS Vijaybaskar,1,2 Mathias J. Friedrich,1,5 Malgorzata Gozdecka,1,2 Sandeep S. Rajan,1,4, Etienne De Braekeleer,1,2 Maxim Barenboim,5,6 Grace Collord,1,2 Hannes Ponstingl,1 Ruben Bautista,1 Milena Mazan,1,8 Roland Rad,5,6 Konstantinos Tzelepis,1,7 Penny Wright,3 and George S. Vassiliou1,2,9* Abstract Internal tandem duplications in FLT3 (FLT3-ITD) are found in 30% of acute myeloid leukemia (AML) cases

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Oakley, Kevin, Yufen Han, Bandana A. Vishwakarma, et al. "Setbp1 promotes the self-renewal of murine myeloid progenitors via activation of Hoxa9 and Hoxa10." Blood 119, no. 25 (2012): 6099–108. http://dx.doi.org/10.1182/blood-2011-10-388710.

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Abstract Acquisition of self-renewal capability by myeloid progenitors to become leukemic stem cells during myeloid leukemia development is poorly understood. Here, we show that Setbp1 overexpression efficiently confers self-renewal capability to myeloid progenitors in vitro, causing their immortalization in the presence of stem cell factor and IL-3. Self-renewal after immortalization requires continuous Setbp1 expression. We also found that Hoxa9 and Hoxa10 mRNA are present at dramatically higher levels in Setbp1-immortalized cells compared with other immortalized cells, and are induced short

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Whitlock, Jordan H., Elizabeth J. Wilk, Timothy C. Howton, Amanda D. Clark, and Brittany N. Lasseigne. "The landscape of SETBP1 gene expression and transcription factor activity across human tissues." PLOS ONE 19, no. 1 (2024): e0296328. http://dx.doi.org/10.1371/journal.pone.0296328.

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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 determined by the introduction (germline vs. somatic) and location of the variant. Germline variants cause the ultra-rare pediatric Schinzel Giedion Syndrome (SGS) and SETBP1 haploinsufficiency disorder (SETBP1-HD), characterized by severe multisystemic abnormalities with neurodegeneration or a less severe brain phenotype accompanied by hypotonia and strabismus, respectively. Somatic variants in SETBP1 are associated with

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Makishima, Hideki, Kenichi Yoshida, Nhu Nguyen, et al. "Somatic Mutations in Schinzel-Giedion Syndrome Gene SETBP1 Determine Progression in Myeloid Malignancies." Blood 120, no. 21 (2012): 2. http://dx.doi.org/10.1182/blood.v120.21.2.2.

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Abstract Abstract 2 MDS and other chronic myeloid malignancies such as MDS/MPN are characterized by a frequent progression to secondary AML (sAML), a likely multistep process of acquisition of genetic abnormalities. Genes involved in congenital genetic cancer susceptibility syndromes are often targets of somatic mutations in various tumors. For instance, germ-line mutations of SETBP1 are associated with Schinzel-Giedion syndrome (SGS), which is characterized by skeletal malformations, mental retardation and frequent neuroepithelial tumors. While SETBP1 overexpression in myeloid malignancies li

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Carratt, Sarah A., Zachary Schonrock, Theodore Braun, Cody Coblentz, Amy Foley, and Julia E. Maxson. "SETBP1 Mutations Accelerate NRAS-Mutant Leukemia." Blood 134, Supplement_1 (2019): 1254. http://dx.doi.org/10.1182/blood-2019-125125.

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Juvenile myelomonocytic leukemia (JMML) is an aggressive, rare form of early childhood leukemia driven by Ras pathway mutations. Mutations in SET binding protein 1 (SETBP1) are a strong predictor of relapse in JMML, and are associated with reduced five-year event-free survival. Although some mechanisms of oncogenesis have been established for SETBP1 mutations, it remains unclear why they are associated with poor prognosis and relapse. The goal of this study was to understand how SETBP1 modulates the biology of Ras-driven leukemias and to determine whether there are therapeutic vulnerabilities

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Carratt, Sarah A., Theodore P. Braun, Zachary Schonrock, et al. "Oncogenic SETBP1 Mutations Combine with Activating Mutations in CSF3R to Produce a Highly Proliferative, Lethal Leukemia through Aberrant Myc Signaling." Blood 136, Supplement 1 (2020): 51–52. http://dx.doi.org/10.1182/blood-2020-143072.

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SETBP1 (SET Binding Protein 1) mutations are associated with exceptionally poor prognosis in myeloid neoplasms. Despite this, SETBP1's role in oncogenesis remains incompletely understood. In this study, we find that SETBP1 leads to a marked upregulation of the Myc oncogene and associated pro-stem and progenitor programs through epigenetic dysregulation. We further identify an epigenetic modulatory drug that normalizes SETBP1-driven Myc overexpression and synergizes with disease-relevant therapy. SETBP1 has documented roles in both the regulation of tumor suppressor pathways and modulation of t

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Crespiatico, Ilaria, Mattia Zaghi, Cristina Mastini, et al. "First-Hit SETBP1 Mutations Cause a Myeloproliferative Disorder with Bone Marrow Fibrosis." Blood 142, Supplement 1 (2023): 4135. http://dx.doi.org/10.1182/blood-2023-189094.

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Somatic SETBP1 mutations are found in various myeloid disorders covering both myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS). To characterize the early steps of SETBP1-mediated leukemogenesis, we generated a conditional mouse model expressing SETBP1 G870S mutant in the entire hematopoietic tissue through Cre-mediated recombination driven by the Vav1 promoter. In all mice signs of a hematological disease appeared between 30 and 90 days: longitudinal analysis revealed accumulation of white blood cells (WBC) in virtually all heterozygous SETBP1 G870S mice, with a marked im

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Jabban, Yazan, Rong He, Kurt Bessonen, et al. "Clinical Characteristics and Prognostic Significance of Co-Mutated SETBP1/GATA2 Myeloid Neoplasms." Blood 144, Supplement 1 (2024): 6700. https://doi.org/10.1182/blood-2024-201128.

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Background: SETBP1 gene, located on 18q12.3, is a major oncogene in myeloid neoplasms. GATA2 gene, located on 3q21, is one of the six GATA transcription factors regulating gene expression via two conserved zinc finger domains (ZF). Previous data suggested that in patients with germline GATA2 mutation (m), acquisition of a somatic SETBP1 mutation (m) was associated with leukemic transformation among patients with excess blast MDS and CMML. Aim: To study the characteristics of patients with somatic SETBP1-GATA2 mutated myeloid neoplasms. Methods: This study is a retrospective study at Mayo Clini

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Wakamatsu, Manabu, Hideki Muramatsu, Norihiro Murakami, et al. "Detection of Subclonal SETBP1 and JAK3 Mutations in Patients with Juvenile Myelomonocytic Leukemia Using Droplet Digital PCR." Blood 134, Supplement_1 (2019): 4213. http://dx.doi.org/10.1182/blood-2019-125354.

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Background Juvenile myelomonocytic leukemia (JMML) is a rare pediatric myelodysplastic/myeloproliferative disease. Approximately 85% of patients with JMML harbor germline and/or somatic mutations in RAS pathway genes, such as PTPN11, NF1, CBL, NRAS, and KRAS. In a subset of patients with JMML, SETBP1 and JAK3 mutations were identified as secondary mutations in addition to primary RAS mutations. These secondary mutations are associated with the disease progression and poor clinical outcome. Recently, it has been reported that subclonal SETBP1 mutation also correlates with a dismal prognosis. Th

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Cristóbal, Ion, Francisco J. Blanco, Laura Garcia-Orti, et al. "SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia." Blood 115, no. 3 (2010): 615–25. http://dx.doi.org/10.1182/blood-2009-06-227363.

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Abstract Acute myeloid leukemias (AMLs) result from multiple genetic alterations in hematopoietic stem cells. We describe a novel t(12;18)(p13;q12) involving ETV6 in a patient with AML. The translocation resulted in overexpression of SETBP1 (18q12), located close to the breakpoint. Overexpression of SETBP1 through retroviral insertion has been reported to confer growth advantage in hematopoietic progenitor cells. We show that SETBP1 overexpression protects SET from protease cleavage, increasing the amount of full-length SET protein and leading to the formation of a SETBP1–SET-PP2A complex that

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Inoue, Daichi, Hirotaka Matsui, Hsin-An Hou, et al. "SETBP1 Mutations Drive Leukemic Transformation in ASXL1-Mutated MDS." Blood 124, no. 21 (2014): 525. http://dx.doi.org/10.1182/blood.v124.21.525.525.

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Abstract Mutations in a variety of genes have been identified in MDS patients. Among them, mutations of additional sex combs-like 1 (ASXL1), found in 15-20% of MDS patients, have been identified as an independent poor prognostic factor. We previously demonstrated that C-terminal–truncating ASXL1 mutations (ASXL1-MT) inhibited myeloid differentiation and induced an MDS-like disease in mice after 1~2 years by inhibiting polycomb repressive complex 2–mediated methylation of histone H3K27 (Inoue et al. J Clin Invest. 2013). Given that ASXL1 mutations have been shown to be related to high-risk MDS

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Stieglitz, Elliot, Camille B. Troup, Laura C. Gelston, et al. "Subclonal Mutations in SETBP1 Predict Relapse in Juvenile Myelomonocytic Leukemia." Blood 124, no. 21 (2014): 410. http://dx.doi.org/10.1182/blood.v124.21.410.410.

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Abstract Juvenile Myelomonocytic Leukemia (JMML) is an aggressive myeloproliferative neoplasm of childhood with a 5-year event free survival of 52% after hematopoietic stem cell transplantation (HSCT). A hallmark of JMML is aberrant Ras pathway activation due to mutations in NF1, NRAS, KRAS, PTPN11 and CBL. However, robust predictors of response are lacking, as individual mutations are not reliably associated with outcome, and relapse remains the most common reason for treatment failure. Recently, massively parallel sequencing has identified recurrent mutations in the SKI domain of SETBP1 in a

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Meggendorfer, Manja, Tamara Alpermann, Elisabeth Sirch, et al. "Mutations In SETBP1 Occur In 3.1% Of De Novo AML and Show a Distinct Genetic Pattern That Highly Resembles Atypical CML." Blood 122, no. 21 (2013): 2560. http://dx.doi.org/10.1182/blood.v122.21.2560.2560.

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Abstract Introduction Recently, mutations in SETBP1 (SETBP1mut) have been identified in different myeloid malignancies. We previously determined mutation frequencies in the range of 5-10% in MPN and MDS/MPN overlap, while we found SETBP1 more frequently mutated in atypical CML (32%). SETBP1mut has been shown to associate with CBL and ASXL1 mutations, as well as the cytogenetic abnormalities -7 and i(17)(q10). While SETBP1 mutations have been detected in 3% of s-AML cases, so far no mutations of SETBP1 in de novo AML have been described. Aim To analyze the mutation frequency of SETBP1 mutations

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Yu, Justine, Giovannino Silvestri, Lorenzo Stramucci, et al. "Potential Targeting Ph+ Acute Lymphoblastic Leukemia Stem and Progenitor Cells By Modulating the CIP2A-SET-SETBP1 -Mediated Suppression of PP2A Activity." Blood 128, no. 22 (2016): 2909. http://dx.doi.org/10.1182/blood.v128.22.2909.2909.

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Abstract Tyrosine kinase inhibitors (TKIs) combined with chemotherapy significantly improved outcomes in adult Philadelphia-chromosome-positive (Ph+) B-cell Acute Lymphoblastic Leukemia (B-ALL). However, high relapse rates due to development of TKI resistance or chemotherapy-induced adverse effects remain the major therapeutic challenges. Furthermore, all TKIs are not effective against Ph+leukemia-initiating cells (LICs). The tumor suppressor protein phosphatase 2A (PP2A) is inactive in almost all solid and hematopoietic tumors. Suppression of PP2A activity correlates with poor outcome and dis

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Piazza, Rocco, Sara Redaelli, Simona Valletta, et al. "SETBP1 and CSF3R Mutations In Atypical Chronic Myeloid Leukemia." Blood 122, no. 21 (2013): 2598. http://dx.doi.org/10.1182/blood.v122.21.2598.2598.

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Abstract Atypical Chronic Myeloid Leukemia (aCML) is a clonal disorder belonging to the group of myelodysplastic/myeloproliferative (MDS/MPN) syndromes. In aCML many clinical features suggest the diagnosis of CML, however the lack of the BCR-ABL1 fusion point to a different pathogenetic process. Recently, we identified the presence of clonal somatic mutations occurring in the SETBP1 gene in approximately 25% of aCML samples (Piazza R. et al., Nat Genet. 2013 Jan;45(1):18-24). A subsequent study (Maxson J. et al., N Engl J Med. 2013 May 9;368(19):1781-90) demonstrated the presence of somatic mu

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Cui, Yajuan, Bing Li, Robert Peter Gale, et al. "Molecular Aberrations of Chronic Neutrophilic Leukemia: The CSF3R and SETBP1 Mutations." Blood 124, no. 21 (2014): 5578. http://dx.doi.org/10.1182/blood.v124.21.5578.5578.

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Abstract Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm (MPN) characterized by sustained elevated neutrophil levels with <10% immature cells according to WHO criteria. Recently, oncogenic mutations affecting the granulocyte-colony stimulating factor receptor (CSF3R) were reported to be highly prevalent in CNL. SET binding protein 1(SETBP1) mutations were also reported in some CNL cases. We reviewed clinical suspected 12 “CNL” patients and performed CSF3R and SETBP1 sequencing. All the 6 who met WHO criteria for CNL carried CSF3R T618I mutation. Four of the 6 also

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Choi, Hyun-Woo, Hye-Ran Kim, Hwan-Young Kim, et al. "Prevalence and Clinical Impacts Of SETBP1 Mutation In East Asian Patients With MDS/MPN." Blood 122, no. 21 (2013): 2629. http://dx.doi.org/10.1182/blood.v122.21.2629.2629.

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Abstract Introduction Recently, recurrent somatic SET-binding protein 1 (SETBP1) mutations were found in atypical chronic myeloid leukemia (aCML) and other related myeloid neoplasms. According to reports so far, SETBP1 mutations occur in 9% of myelodysplastic/myeloproliferative neoplasms (MDS/MPN), especially in high frequency (24∼30%) of aCML. SETBP1 mutations were associated with worse prognosis and higher white blood cell (WBC) counts. Most of the reports came from western countries and there was a need to further study its clinicopathological impacts in East Asian patients because of pauci

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Bresolin, Silvia, Paola De Filippi, Francesca Vendemini, Riccardo Masetti, Franco Locatelli, and Geertruy te Kronnie. "Secondary Mutations of JAK3 and SETBP1 in Juvenile Myelomonocytic Leukemia and Their Propagating Capacity; A Report from the AIEOP Study Group." Blood 124, no. 21 (2014): 4625. http://dx.doi.org/10.1182/blood.v124.21.4625.4625.

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Abstract INTRODUCTION Juvenile myelomonocytic leukemia is a rare early childhood leukemia, characterized by excessive proliferation of granulocytic and monocytic cells. About 95% of JMML patients harbor driver mutations in the RAS signaling pathway. Recently, secondary hits in SETBP1 and JAK3 have been reported in a Japanese cohort of JMML patients showing an adverse clinical outcome of patients carrying these mutations. Here we report the mutational analysis of SETBP1 and JAK3 and clinical implications in a cohort of Italian JMML patients. METHODS Samples collected at diagnosis of 65 patients

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Borges Ferreira, Viviane. "Sobreposição da mutação ganho-de-função* do gen SETBP1 na Síndrome de Schinzel-Giedion e em doenças hematológicas malignas." Revista Científica Hospital Santa Izabel 2, no. 1 (2020): 48–51. http://dx.doi.org/10.35753/rchsi.v2i1.86.

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A Síndrome de Schinzel-Giedion (SGS) é um raro distúrbio do desenvolvimento, caracterizado por múltiplas malformações, alterações neurológicas severas e elevação do risco de ocorrência de neoplasias malignas. SGS é causada por mutação de novo no hotspot (região do material genético mais propensa a mutação) do braço curto do cromossomo 12, no exon4, no gen SETBP1. Mutações nesse hotspot interrompem a degradação e regulação proteica, promovendo o acúmulo da proteína SETBP1. A sobreposição de mutações no hotspot do gen da proteína SETBP1 tem sido observada, de maneira recorrente em fenótipos como

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Neupauerová, Jana, Katalin Štěrbová, Vladimír Komárek, et al. "Schinzel—Giedion Syndrome: First Czech Patients Confirmed by Molecular Genetic Analysis." Journal of Pediatric Neurology 17, no. 03 (2018): 125–27. http://dx.doi.org/10.1055/s-0038-1651520.

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AbstractSchinzel–Giedion syndrome (SGS) is a very rare genetic disorder characterized by distinctive facial features, severe developmental delay, seizures, and skeletal abnormalities. Whole exome sequencing, Sanger sequencing, and correlation with already published variants and cases allowed us to identify two different de novo mutations in the SETBP1 gene: NM_015559.2 (SETBP1): c.2601C > G (p.Ser867Arg) and c. 2608 G > A (p.Gly870Ser) in two Czech patients presenting with SGS features. Both mutations are within exon 4 of SETBP1, supporting the notion that exon 4 represents the mutation

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Gambacorti-Passerini, Carlo, Simona Valletta, Nils Winkelmann, et al. "Recurrent SETBP1 Mutations in Atypical Chronic Myeloid Leukemia Abrogate an Ubiquitination Site and Dysregulate SETBP1 Protein Levels." Blood 120, no. 21 (2012): LBA—2—LBA—2. http://dx.doi.org/10.1182/blood.v120.21.lba-2.lba-2.

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Abstract Abstract LBA-2 The SETBP1 gene codes for a predominantly nuclear protein with a predicted MW of 170 kD. Germline mutations of SETBP1 were described in patients affected by the Schinzel-Giedion syndrome (SGS), a rare disease characterized by bone, muscle and cardiac abnormalities, and presenting neuroepithelial neoplasms. In an effort to investigate the molecular pathogenesis of myeloid malignancies we applied a HTS strategy, including both exome sequencing and RNA-SEQ, to atypical Chronic Myeloid Leukemia (aCML), as defined by WHO criteria, with the aim of identifying novel recurrent

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Stieglitz, Elliot, Camille B. Troup, Laura C. Gelston, et al. "Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia." Blood 125, no. 3 (2015): 516–24. http://dx.doi.org/10.1182/blood-2014-09-601690.

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Key Points Mutations in SETBP1 can be detected using droplet digital polymerase chain reaction in at least 30% of patients with JMML and are associated with a dismal prognosis. Patients harboring rare cells with mutant SETBP1 at diagnosis should be considered candidates for swift hematopoietic stem cell transplant.

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Niro, Antonio, Rocco Piazza, Gabriele Merati, et al. "ETNK1 Is an Early Event and SETBP1 a Late Event in Atypical Chronic Myeloid Leukemia." Blood 126, no. 23 (2015): 3652. http://dx.doi.org/10.1182/blood.v126.23.3652.3652.

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Abstract Atypical Chronic Myeloid Leukemia (aCML) is a clonal disorder belonging to the myelodisplastic-myeloproliferative neoplasms, according to the WHO-2008 classification. From a clinical point of view it closely resembles the classical Chronic Myeloid Leukemia (CML), however it lacks the presence of the Philadelphia chromosome and of the BCR-ABL1 fusion gene. In recent works, we and others characterized the somatic lesions present in the aCML genome, mainly by using Next Generation Sequencing (NGS) technologies, demonstrating the presence of a large set of recurrent somatic mutations invo

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Qiao, Chun, Yuan Ouyang, and Sujiang Zhang. "Clinical Significance of CSF3R, SRSF2 and SETBP1 mutation in Chronic Neutrophilic Leukemia and Chronic Myelomonocytic Leukemia." Blood 126, no. 23 (2015): 1617. http://dx.doi.org/10.1182/blood.v126.23.1617.1617.

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Abstract Objective: To investigate the gene mutation and the clinical features of CSF3R, SETBP1 and SRSF2 in chronic neutrophilic leukemia (CNL) and chronic myelomonocytic leukemia (CMML) patients. Method: Sequence analysis of CSF3R, SETBP1 and SRSF2 were performed in 10 CNL and 56 CMML patients whose clinical features were also studied. Result: Among 10 CNL patients, 8(8/10, 80%) patients had CSF3R mutations and 7(7/8, 87.5%) of them were with CSF3R T618I. In 56 cases of patients with CMML, SRSF2 mutations were found in 14(14/56,25%), CSF3R in 4(4/56,7.1%) and SETBP1 in 3(3/56, 5.3%) patients

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Qian, Yi, Yan Chen, and Xiaoming Li. "CSF3R T618I, SETBP1 G870S, SRSF2 P95H, and ASXL1 Q780* tetramutation co-contribute to myeloblast transformation in a chronic neutrophilic leukemia." Annals of Hematology 100, no. 6 (2021): 1459–61. http://dx.doi.org/10.1007/s00277-021-04491-2.

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AbstractChronic neutrophilic leukemia (CNL) is a rare but serious myeloid malignancy. In a review of reported cases for WHO-defined CNL, CSF3R mutation is found in about 90% cases and confirmed as the molecular basis of CNL. Concurrent mutations are observed in CSF3R-mutated CNL patients, including ASXL1, SETBP1, SRSF2, JAK2, CALR, TET2, NRAS, U2AF1, and CBL. Both ASXL1 and SETBP1 mutations in CNL have been associated with a poor prognosis, whereas, SRSF2 mutation was undetermined. Our patient was a 77-year-old man and had no significant past medical history and symptoms with leukocytosis. Bon

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Bulut, Ozgul, Zeynep Ince, Umut Altunoglu, Sukran Yildirim, and Asuman Coban. "Schinzel-Giedion Syndrome with Congenital Megacalycosis in a Turkish Patient: Report of SETBP1 Mutation and Literature Review of the Clinical Features." Case Reports in Genetics 2017 (2017): 1–4. http://dx.doi.org/10.1155/2017/3740524.

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Schinzel-Giedion syndrome (SGS) is a rare autosomal dominant disorder that results in facial dysmorphism, multiple congenital anomalies, and an increased risk of malignancy. Recently, using exome sequencing, de novo heterozygous mutations in the SETBP1 gene have been identified in patients with SGS. Most affected individuals do not survive after childhood because of the severity of this disorder. Here, we report SETBP1 mutation confirmed by molecular analysis in a case of SGS with congenital megacalycosis.

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Kohyanagi, Naoki, Nao Kitamura, Keiko Tanaka, et al. "The protein level of the tumour-promoting factor SET is regulated by cell density." Journal of Biochemistry 171, no. 3 (2022): 295–303. http://dx.doi.org/10.1093/jb/mvab125.

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Abstract SET/I2PP2A is a multifunctional protein that acts as an intrinsic inhibitor of the tumour suppressor protein phosphatase 2A and as a histone chaperone. Increased SET levels have been observed in various cancers; however, the underlying molecular mechanisms remain unclear. In this study, we found that SET protein accumulates with the increasing density of cultured cells. This phenomenon was observed not only in cancer cell lines but also in non-cancer cell lines. The mRNA levels of SET were not affected by the cell density. Proteasome inhibition decreased SET levels, whereas autophagy

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Hills, Robert K., Claire M. Lucas, Laura J. Scott, Natasha Carmell, Alison K. Holcroft, and Richard E. Clark. "PP2A Inhibition By CIP2A or SETBP1 Leads to Elevated Levels of AKT S473 Which Can be Used As a Biomarker of Outcome in Acute Myeloid Leukaemia." Blood 126, no. 23 (2015): 1396. http://dx.doi.org/10.1182/blood.v126.23.1396.1396.

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Abstract Many cells utilise reversible phosphorylation as a mechanism of post-translational modification for activating and deactivating key regulatory molecules involved in cell signalling. Many malignancies are characterised by overactive kinases e.g. BCR-ABL or FLT-3 in myeloid malignancy, or ERK or ErbB2 in solid tumours. A major phosphatase working in opposition to kinases is protein phosphatase 2A (PP2A) but why the cellular phosphatases such as PP2A simply do not counteract the overactive kinase activity is unclear. PP2A activity is regulated by inhibitor proteins SET, (which is stabili

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Adema, Vera, Larrayoz Maria Jose, Calasanz Maria Jose, et al. "Myelodysplastic Syndromes with I(17)(q10) and Prognostic Implications of Mutations of TP53 and SETBP1." Blood 124, no. 21 (2014): 1910. http://dx.doi.org/10.1182/blood.v124.21.1910.1910.

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Abstract INTRODUCTION Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal myeloid stem cell disorders highly prevalent in elderly populations. MDS are characterized by inefficient hematopoiesis, peripheral blood (PB) cytopenias, and increased risk of transformation to acute myeloid leukemia (AML; 20–30%). Around 50% of MDS patients carry at least one karyotoypic aberration, the most common being 5q-, -7/7q-, +8, 20q-, and isochromosome 17(q10) [i(17q)]. Isochromosome 17(q10) according to cytogenetic risk stratification is of intermediate prognostic significance when is observed

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Zhou, Yaqing, Yan Quan, Yijun Wu, and Yinxing Zhang. "Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1." Journal of International Medical Research 50, no. 9 (2022): 030006052211219. http://dx.doi.org/10.1177/03000605221121955.

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The 18q12.3 region contains the SET binding protein 1 (SETBP1) gene. SETBP1 mutations or deletions are associated with Schinzel–Giedion syndrome or intellectual developmental disorder, autosomal dominant 29. We report the prenatal diagnosis and genetic counseling of a patient with a maternally inherited 18q12.3 microdeletion. In this family, the mother and son carried the same microdeletion. Chromosomal microdeletions and microduplications are difficult to detect using conventional cytogenetics, whereas the combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis

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Jansen, Nadieh A., Ruth O. Braden, Siddharth Srivastava, et al. "Clinical delineation of SETBP1 haploinsufficiency disorder." European Journal of Human Genetics 29, no. 8 (2021): 1198–205. http://dx.doi.org/10.1038/s41431-021-00888-9.

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Makishima, Hideki, Kenichi Yoshida, Nhu Nguyen, et al. "Somatic SETBP1 mutations in myeloid malignancies." Nature Genetics 45, no. 8 (2013): 942–46. http://dx.doi.org/10.1038/ng.2696.

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Makishima, Hideki. "Somatic SETBP1 mutations in myeloid neoplasms." International Journal of Hematology 105, no. 6 (2017): 732–42. http://dx.doi.org/10.1007/s12185-017-2241-1.

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Gurbuxani, Sandeep. "SETBP1 sets the stage." Blood 143, no. 14 (2024): 1323–24. http://dx.doi.org/10.1182/blood.2023023757.

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Meggendorfer, Manja, Niroshan Nadarajah, Claudia Haferlach, Wolfgang Kern, and Torsten Haferlach. "Analyzing the Transcriptome Discovers up-Regulation of HOXA Genes in Patients with Myeloid Neoplasms and Isochromosome 17q and Mutations in ASXL1, SETBP1 and SRSF2." Blood 128, no. 22 (2016): 2703. http://dx.doi.org/10.1182/blood.v128.22.2703.2703.

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Abstract Introduction: Isochromosome 17 (i(17q)) is a rare cytogenetic abnormality reported in different myeloid neoplasms. I(17q) has been described as primary and as secondary chromosomal aberration, often acquired in the disease course. Recently, we have shown that patients with i(17q) show a distinct mutation profile with mutations in ASXL1, SETBP1 and SRSF2. Further data suggested a parallel acquisition of SETBP1 mutation and i(17q) (Meggendorfer et al., Leukemia, 2016). Of note, i(17q) results in three copies of the splicing factor SRSF2, potentially further influencing the transcriptome

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Pastor Loyola, Victor, Pritam Kumar Panda, Sushree Sangita Sahoo, et al. "Monosomy 7 As the Initial Hit Followed By Sequential Acquisition of SETBP1 and ASXL1 Driver Mutations in Childhood Myelodysplastic Syndromes." Blood 132, Supplement 1 (2018): 105. http://dx.doi.org/10.1182/blood-2018-99-118910.

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Abstract Childhood myelodysplastic syndromes (MDS) account for less than 5% of pediatric hematologic malignancies and differ from their adult counterpart in terms of biology, genetics, and cure rates. Complete (-7) or partial loss (del7q) of chromosome 7 constitutes the most common cytogenetic abnormality and is associated with more advanced disease typically requiring timely hematopoietic stem cell transplantation (HSCT). Previously, we and others established a link between -7 and germline GATA2 mutations in pediatric MDS (37% of MDS/-7 cases are GATA2-deficient) as well as constitutional SAM

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Donadoni, Carla, Rocco Piazza, Diletta Fontana, et al. "Evidence of ETNK1 Somatic Variants in Atypical Chronic Myeloid Leukemia." Blood 124, no. 21 (2014): 2212. http://dx.doi.org/10.1182/blood.v124.21.2212.2212.

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Abstract Atypical Chronic Myeloid Leukemia (aCML) is a clonal disorder belonging to the Myeloproliferative/Myelodysplastic (MPN/MDS) group. The molecular lesions responsible for the onset of aCML remained unknown until 2013 when recurrent somatic mutations of SETBP1 were identified. However, the frequency of SETBP1 mutations in aCML does not exceed 25-30%, which suggests that other lesions may play a role in the remaining cases. To gain further insight into the somatic variants responsible for the onset of aCML, we generated whole-exome and transcriptome sequencing data on 15 matched case/cont

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Meggendorfer, Manja, Claudia Haferlach, Wolfgang Kern, Susanne Schnittger, and Torsten Haferlach. "The Landscape of Myeloid Neoplasms with Isochromosome 17q Discloses a Specific Mutation Profile and Is Characterized By an Accumulation of Prognostically Adverse Molecular Markers." Blood 126, no. 23 (2015): 1656. http://dx.doi.org/10.1182/blood.v126.23.1656.1656.

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Abstract Introduction: Isochromosome 17 (i(17q)) is a rare cytogenetic abnormality resulting in the loss of the short arm and the duplication of the long arm of chromosome 17. i(17q) has been reported in different myeloid neoplasms like acute myeloid leukemia (AML), chronic myeloid leukemia (CML), myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN), MDS/MPN overlap, as well as in Hodgkin- and non-Hodgkin-lymphoma. i(17q) has been described both as primary and as secondary chromosomal aberration. In myeloid neoplasms i(17q) as sole abnormality is suggested to define a distinctiv

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Zhao, Helong, and Michael W. Deininger. "CSF3R and SETBP1 getting high on LSD1." Blood 140, no. 6 (2022): 529–30. http://dx.doi.org/10.1182/blood.2022016740.

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López-González, V., M. R. Domingo-Jiménez, L. Burglen, et al. "Síndrome Schinzel-Giedion: nueva mutación en SETBP1." Anales de Pediatría 82, no. 1 (2015): e12-e16. http://dx.doi.org/10.1016/j.anpedi.2014.06.017.

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Lasho, Terra L., Alice Mims, Rebecca R. Laborde, Christy Finke, Animesh Pardanani, and Ayalew Tefferi. "Chronic Neutrophilic Leukemia With Concurrent CSF3R and SETBP1 Mutations: Single Colony Clonality Studies, In Vitro Sensitivity To JAK Inhibitors and Lack Of Treatment Response To Ruxolitinib." Blood 122, no. 21 (2013): 2830. http://dx.doi.org/10.1182/blood.v122.21.2830.2830.

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Abstract Background High frequency mutations in both the colony-stimulating factor 3 receptor (CSF3R) and SET binding protein-1 (SETBP1) have recently been described in World Health Organization (WHO)-defined chronic neutrophilic leukemia (CNL) (NEJM 2013;368:1781; Leukemia. 2013. Prepublished on 2013/04/23). Response to treatment with ruxolitinib (10-15 mg twice-daily) was also described in one patient with CSF3RT618I mutation (NEJM 2013;368:1781). Primary cells from this patient were reportedly sensitive to inhibition by ruxolitinib (IC50, 127 nM). In a report of 12 patients with WHO-defined

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Makishima, Hideki. "Correction to: Somatic SETBP1 mutations in myeloid neoplasms." International Journal of Hematology 114, no. 6 (2021): 742. http://dx.doi.org/10.1007/s12185-021-03236-1.

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Coccaro, Nicoletta, Giuseppina Tota, Antonella Zagaria, Luisa Anelli, Giorgina Specchia, and Francesco Albano. "SETBP1 dysregulation in congenital disorders and myeloid neoplasms." Oncotarget 8, no. 31 (2017): 51920–35. http://dx.doi.org/10.18632/oncotarget.17231.

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Thol, F., K. J. Suchanek, C. Koenecke, et al. "P-114 SETBP1 mutations in MDS and sAML." Leukemia Research 37 (May 2013): S75. http://dx.doi.org/10.1016/s0145-2126(13)70162-0.

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