دورية أكاديمية
أعرض في EDS

Identification of novel PIEZO1::CBFA2T3 and INO80C::SETBP1 fusion genes in an acute myeloid leukemia patient by RNA-seq.

التفاصيل البيبلوغرافية
العنوان: Identification of novel PIEZO1::CBFA2T3 and INO80C::SETBP1 fusion genes in an acute myeloid leukemia patient by RNA-seq.
المؤلفون: Li Y; Department of Hematology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China., Liu Y; Department of Hematology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China., Gao X; Department of Hematology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China., Zhao W; Department of Hematology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China., Zhou F; Department of Hematology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China., Liu H; Division of Pathology & Laboratory Medicine, Hebei Yanda Lu Daopei Hospital, Langfang, 065201, China. starliu@pku.edu.cn.; Beijing Lu Daopei Institute of Hematology, Beijing, 100076, China. starliu@pku.edu.cn.; Division of Pathology & Laboratory Medicine, Beijing Lu Daopei Hospital, Beijing, 100076, China. starliu@pku.edu.cn., Wang W; Department of Hematology, The Second Affiliated Hospital of Harbin Medical University, Harbin, China. Wangweihrb2021@163.com.
المصدر: Molecular biology reports [Mol Biol Rep] 2023 Feb; Vol. 50 (2), pp. 1961-1966. Date of Electronic Publication: 2022 Dec 06.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Dordrecht, Boston, Reidel.
مواضيع طبية MeSH: Leukemia, Myeloid, Acute*/pathology, Humans ; Male ; Base Sequence ; Carrier Proteins/genetics ; Genes, Regulator ; Ion Channels/genetics ; Ion Channels/metabolism ; Mutant Chimeric Proteins ; Nuclear Proteins/genetics ; Repressor Proteins/genetics ; RNA-Seq
مستخلص: Background: Fusion genes are recurrent molecular aberrations in acute myeloid leukemia, with significant diagnostic and therapeutic value. The identification of novel fusion genes provides advanced biomarkers for diagnosis and facilitates the discovery of drug targets.
Methods: Bone marrow sample was extracted from an acute myeloid leukemia patient and RNA-sequencing was performed. Several bioinformatic methods, including differential analysis and Gene Set Enrichment Analysis (GSEA) pathway analyses were conducted based on the expression data.
Results: Two novel fusion genes, PIEZO1::CBFA2T3 and INO80C::SETBP1, were identified by RNA-seq. Differential analysis found that SETBP1 and CBFA2T3 were overexpressed, and GSEA analysis showed the activation of immune-related pathways. These findings indicate dysfunction of the fusion related- genes and possible pathogenic effect of the fusion genes.
Conclusion: We reported a male AML patient with presence of PIEZO1::CBFA2T3 and INO80C::SETBP1 fusion genes.
(© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)
References: Chen X, Wang F, Wang T et al (2020) The incidence, genetic characteristics, and prognosis of leukemia with concurrent pathogenic fusion genes: a series of 25 cases from a large cohort of leukemia patients. Cancer Gene Ther 27(1–2):89–97. https://doi.org/10.1038/s41417-019-0147-1. (PMID: 10.1038/s41417-019-0147-1)
Meggendorfer M, Bacher U, Alpermann T et al (2013) SETBP1 mutations occur in 9% of MDS/MPN and in 4% of MPN cases and are strongly associated with atypical CML, monosomy 7, isochromosome i(17)(q10), ASXL1 and CBL mutations. Leukemia 27(9):1852–1860. https://doi.org/10.1038/leu.2013.133.
Zhang Y, Wang F, Chen X et al (2018) CSF3R mutations are frequently associated with abnormalities of RUNX1, CBFB, CEBPA, and NPM1 genes in acute myeloid leukemia. Cancer 124(16):3329–3338. https://doi.org/10.1002/cncr.31586. (PMID: 10.1002/cncr.31586)
Hunt M, Mather AE, Sánchez-Busó L et al (2017) ARIBA: rapid antimicrobial resistance genotyping directly from sequencing reads. Microb Genomics 3(10):e000131. https://doi.org/10.1099/mgen.0.000131. (PMID: 10.1099/mgen.0.000131)
Jakobczyk H, Debaize L, Soubise B et al (2021) Reduction of RUNX1 transcription factor activity by a CBFA2T3-mimicking peptide: application to B cell precursor acute lymphoblastic leukemia. J Hematol Oncol 14(1):47. https://doi.org/10.1186/s13045-021-01051-z. (PMID: 10.1186/s13045-021-01051-z)
Cristóbal I, Blanco FJ, Garcia-Orti L et al (2010) SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia. Blood 115(3):615–625. https://doi.org/10.1182/blood-2009-06-227363. (PMID: 10.1182/blood-2009-06-227363)
Minakuchi M, Kakazu N, Gorrin-Rivas MJ et al (2001) Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. Eur J Biochem 268(5):1340–1351. (PMID: 10.1046/j.1432-1327.2001.02000.x)
Piazza R, Magistroni V, Redaelli S et al (2018) SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub. Nat Commun 9(1):2192. https://doi.org/10.1038/s41467-018-04462-8. (PMID: 10.1038/s41467-018-04462-8)
Haas BJ, Dobin A, Li B et al (2019) Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods. Genome Biol 20(1):213. https://doi.org/10.1186/s13059-019-1842-9. (PMID: 10.1186/s13059-019-1842-9)
Yu G, Wang L-G, Han Y, He Q-Y (2012) clusterProfiler: an R package for comparing biological themes among gene clusters. OMICS 16(5):284–287. https://doi.org/10.1089/omi.2011.0118. (PMID: 10.1089/omi.2011.0118)
Steinauer N, Guo C, Huang C et al (2019) Myeloid translocation gene CBFA2T3 directs a relapse gene program and determines patient-specific outcomes in AML. Blood Adv 3(9):1379–1393. https://doi.org/10.1182/bloodadvances.2018028514. (PMID: 10.1182/bloodadvances.2018028514)
Makishima H (2017) Somatic SETBP1 mutations in myeloid neoplasms. Int J Hematol 105(6):732–742. https://doi.org/10.1007/s12185-017-2241-1. (PMID: 10.1007/s12185-017-2241-1)
Makishima H, Yoshida K, Nguyen N et al (2013) Somatic SETBP1 mutations in myeloid malignancies. Nat Genet 45(8):942–946. https://doi.org/10.1038/ng.2696. (PMID: 10.1038/ng.2696)
Brayer J, Lancet JE, Powers J et al (2015) WT1 vaccination in AML and MDS: a pilot trial with synthetic analog peptides. Am J Hematol 90(7):602–607. https://doi.org/10.1002/ajh.24014. (PMID: 10.1002/ajh.24014)
Luesink M, Hollink I H I M, van der Velden VHJ et al (2012) High GATA2 expression is a poor prognostic marker in pediatric acute myeloid leukemia. Blood 120(10):2064–2075. https://doi.org/10.1182/blood-2011-12-397083. (PMID: 10.1182/blood-2011-12-397083)
Yun S, Sharma R, Chan O et al (2019) Prognostic significance of MYC oncoprotein expression on survival outcome in patients with acute myeloid leukemia with myelodysplasia related changes (AML-MRC). Leuk Res 84:106194. https://doi.org/10.1016/j.leukres.2019.106194. (PMID: 10.1016/j.leukres.2019.106194)
Amano K, Takasugi N, Kubota Y et al (2020) CBFA2T3-GLIS2-positive acute megakaryoblastic leukemia in a patient with Down syndrome. Pediatr Blood Cancer 67(2):e28055. https://doi.org/10.1002/pbc.28055. (PMID: 10.1002/pbc.28055)
Mitsui-Sekinaka K, Sekinaka Y, Ogura Y et al (2018) A pediatric case of acute megakaryocytic leukemia with double chimeric transcripts of CBFA2T3-GLIS2 and DHH-RHEBL1. Leuk Lymphoma 59(6):1511–1513. https://doi.org/10.1080/10428194.2017.1387901. (PMID: 10.1080/10428194.2017.1387901)
Li J, Shen Z, Wang Z et al (2022) CTCF: a novel fusion partner of ETO2 in a multiple relapsed acute myeloid leukemia patient. J Leukoc Biol 111(5):981–987. https://doi.org/10.1002/JLB.2A0720-441RR. (PMID: 10.1002/JLB.2A0720-441RR)
Liu H, Wang SA, Schlette EJ et al (2018) Myeloid neoplasms with t(16;21)(q24;q22)/RUNX1-RUNX1T3 mimics acute myeloid leukemia with RUNX1-RUNX1T1. Ann Hematol 97(10):1775–1783. https://doi.org/10.1007/s00277-018-3389-3.
Masetti R, Bertuccio SN, Pession A, Locatelli F (2019) CBFA2T3-GLIS2-positive acute myeloid leukaemia. A peculiar paediatric entity. Br J Haematol 184(3):337–347. https://doi.org/10.1111/bjh.15725. (PMID: 10.1111/bjh.15725)
Elena C, Gallì A, Such E et al (2016) Integrating clinical features and genetic lesions in the risk assessment of patients with chronic myelomonocytic leukemia. Blood 128(10):1408–1417. https://doi.org/10.1182/blood-2016-05-714030. (PMID: 10.1182/blood-2016-05-714030)
Piazza R, Valletta S, Winkelmann N et al (2013) Recurrent SETBP1 mutations in atypical chronic myeloid leukemia. Nat Genet 45(1):18–24. https://doi.org/10.1038/ng.2495. (PMID: 10.1038/ng.2495)
Yu J, Sun J, Du Y et al (2021) Adverse impact of DNA methylation regulatory gene mutations on the prognosis of AML patients in the 2017 ELN favorable risk group, particularly those defined by mutation. Diagnostics (Basel Switzerland). https://doi.org/10.3390/diagnostics11060986.
Wang L, Zhao H, Li J et al (2020) Identifying functions and prognostic biomarkers of network motifs marked by diverse chromatin states in human cell lines. Oncogene 39(3):677–689. https://doi.org/10.1038/s41388-019-1005-1. (PMID: 10.1038/s41388-019-1005-1)
معلومات مُعتمدة: TB201021 Beijing Health Alliance Charitable Foundation; YKCX2018-15 Young and middle-aged Science Foundation of Harbin Medical University; CXPJJH121003-2121 Special fund for Youth Science of Hubei Chen Xiaoping science and Technology Development Foundation; LH2022H021 Nature Scientific Foundation of Heilongjiang Province
فهرسة مساهمة: Keywords: Acute; Gene fusion; Leukemia; Myeloid; RNA-seq
المشرفين على المادة: 0 (Carrier Proteins)
0 (CBFA2T3 protein, human)
0 (Ion Channels)
0 (Mutant Chimeric Proteins)
0 (Nuclear Proteins)
0 (PIEZO1 protein, human)
0 (Repressor Proteins)
0 (SETBP1 protein, human)
0 (INO80C protein, human)
تواريخ الأحداث: Date Created: 20221206 Date Completed: 20230829 Latest Revision: 20230829
رمز التحديث: 20230830
DOI: 10.1007/s11033-022-08138-x
PMID: 36472727
قاعدة البيانات: MEDLINE
الوصف
تدمد:1573-4978
DOI:10.1007/s11033-022-08138-x