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ETV6-RUNX1 Fusion Protein Expression

MedGen UID:
271556
•Concept ID:
C1515155
•
Cell or Molecular Dysfunction
Synonyms: ETV6-CBFalpha2 Fusion Protein Expression; ETV6/RUNX1 Fusion Protein Expression; TEL-AML1 Fusion Protein Expression; TEL/AML1 Fusion Protein Expression

Definition

Expression of a fusion protein containing the helix-loop-helix domain encoded by the human ETV6 gene and the DNA-binding and transactivation domains encoded by the human RUNX1 gene as a result of a t(12;21)(p13; q22) translocation. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVETV6-RUNX1 Fusion Protein Expression

Professional guidelines

PubMed

CD371-positive pediatric B-cell acute lymphoblastic leukemia: propensity to lineage switch and slow early response to treatment.
Buldini B, Varotto E, Maurer-Granofszky M, Gaipa G, Schumich A, Brüggemann M, Mejstrikova E, Cazzaniga G, Hrusak O, Szczepanowski M, Scarparo P, Zimmermann M, Strehl S, Schinnerl D, Zaliova M, Karawajew L, Bourquin JP, Feuerstein T, Cario G, Alten J, Möricke A, Biffi A, Parasole R, Fagioli F, Valsecchi MG, Biondi A, Locatelli F, Attarbaschi A, Schrappe M, Conter V, Basso G, Dworzak MN
Blood 2024 Apr 25;143(17):1738-1751. doi: 10.1182/blood.2023021952. PMID: 38215390

Recent clinical studies

Etiology

Emerging molecular subtypes and therapies in acute lymphoblastic leukemia.
Davis K, Sheikh T, Aggarwal N
Semin Diagn Pathol 2023 May;40(3):202-215. Epub 2023 Apr 9 doi: 10.1053/j.semdp.2023.04.003. PMID: 37120350
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.
Paietta E, Roberts KG, Wang V, Gu Z, Buck GAN, Pei D, Cheng C, Levine RL, Abdel-Wahab O, Cheng Z, Wu G, Qu C, Shi L, Pounds S, Willman CL, Harvey R, Racevskis J, Barinka J, Zhang Y, Dewald GW, Ketterling RP, Alejos D, Lazarus HM, Luger SM, Foroni L, Patel B, Fielding AK, Melnick A, Marks DI, Moorman AV, Wiernik PH, Rowe JM, Tallman MS, Goldstone AH, Mullighan CG, Litzow MR
Blood 2021 Sep 16;138(11):948-958. doi: 10.1182/blood.2020010144. PMID: 33895809Free PMC Article
Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.
Nishii R, Baskin-Doerfler R, Yang W, Oak N, Zhao X, Yang W, Hoshitsuki K, Bloom M, Verbist K, Burns M, Li Z, Lin TN, Qian M, Moriyama T, Gastier-Foster JM, Rabin KR, Raetz E, Mullighan C, Pui CH, Yeoh AE, Zhang J, Metzger ML, Klco JM, Hunger SP, Newman S, Wu G, Loh ML, Nichols KE, Yang JJ
Blood 2021 Jan 21;137(3):364-373. doi: 10.1182/blood.2020006164. PMID: 32693409Free PMC Article
Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases.
Li JF, Dai YT, Lilljebjörn H, Shen SH, Cui BW, Bai L, Liu YF, Qian MX, Kubota Y, Kiyoi H, Matsumura I, Miyazaki Y, Olsson L, Tan AM, Ariffin H, Chen J, Takita J, Yasuda T, Mano H, Johansson B, Yang JJ, Yeoh AE, Hayakawa F, Chen Z, Pui CH, Fioretos T, Chen SJ, Huang JY
Proc Natl Acad Sci U S A 2018 Dec 11;115(50):E11711-E11720. Epub 2018 Nov 28 doi: 10.1073/pnas.1814397115. PMID: 30487223Free PMC Article
Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.
Lilljebjörn H, Henningsson R, Hyrenius-Wittsten A, Olsson L, Orsmark-Pietras C, von Palffy S, Askmyr M, Rissler M, Schrappe M, Cario G, Castor A, Pronk CJ, Behrendtz M, Mitelman F, Johansson B, Paulsson K, Andersson AK, Fontes M, Fioretos T
Nat Commun 2016 Jun 6;7:11790. doi: 10.1038/ncomms11790. PMID: 27265895Free PMC Article

Diagnosis

Emerging molecular subtypes and therapies in acute lymphoblastic leukemia.
Davis K, Sheikh T, Aggarwal N
Semin Diagn Pathol 2023 May;40(3):202-215. Epub 2023 Apr 9 doi: 10.1053/j.semdp.2023.04.003. PMID: 37120350
Identification of diagnosis and prognosis gene markers in B-ALL with ETV6-RUNX1 fusion by integrated bioinformatics analysis.
Zhu H, Zhang R, Li R, Wang Z, Li H, Zhong H, Yin L, Ruan X, Ye C, Yuan H, Cheng Z, Peng H
Gene 2022 Mar 20;815:146132. Epub 2022 Jan 6 doi: 10.1016/j.gene.2021.146132. PMID: 34999180
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.
Paietta E, Roberts KG, Wang V, Gu Z, Buck GAN, Pei D, Cheng C, Levine RL, Abdel-Wahab O, Cheng Z, Wu G, Qu C, Shi L, Pounds S, Willman CL, Harvey R, Racevskis J, Barinka J, Zhang Y, Dewald GW, Ketterling RP, Alejos D, Lazarus HM, Luger SM, Foroni L, Patel B, Fielding AK, Melnick A, Marks DI, Moorman AV, Wiernik PH, Rowe JM, Tallman MS, Goldstone AH, Mullighan CG, Litzow MR
Blood 2021 Sep 16;138(11):948-958. doi: 10.1182/blood.2020010144. PMID: 33895809Free PMC Article
Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases.
Li JF, Dai YT, Lilljebjörn H, Shen SH, Cui BW, Bai L, Liu YF, Qian MX, Kubota Y, Kiyoi H, Matsumura I, Miyazaki Y, Olsson L, Tan AM, Ariffin H, Chen J, Takita J, Yasuda T, Mano H, Johansson B, Yang JJ, Yeoh AE, Hayakawa F, Chen Z, Pui CH, Fioretos T, Chen SJ, Huang JY
Proc Natl Acad Sci U S A 2018 Dec 11;115(50):E11711-E11720. Epub 2018 Nov 28 doi: 10.1073/pnas.1814397115. PMID: 30487223Free PMC Article
Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article

Therapy

Identification of diagnosis and prognosis gene markers in B-ALL with ETV6-RUNX1 fusion by integrated bioinformatics analysis.
Zhu H, Zhang R, Li R, Wang Z, Li H, Zhong H, Yin L, Ruan X, Ye C, Yuan H, Cheng Z, Peng H
Gene 2022 Mar 20;815:146132. Epub 2022 Jan 6 doi: 10.1016/j.gene.2021.146132. PMID: 34999180
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.
Paietta E, Roberts KG, Wang V, Gu Z, Buck GAN, Pei D, Cheng C, Levine RL, Abdel-Wahab O, Cheng Z, Wu G, Qu C, Shi L, Pounds S, Willman CL, Harvey R, Racevskis J, Barinka J, Zhang Y, Dewald GW, Ketterling RP, Alejos D, Lazarus HM, Luger SM, Foroni L, Patel B, Fielding AK, Melnick A, Marks DI, Moorman AV, Wiernik PH, Rowe JM, Tallman MS, Goldstone AH, Mullighan CG, Litzow MR
Blood 2021 Sep 16;138(11):948-958. doi: 10.1182/blood.2020010144. PMID: 33895809Free PMC Article
Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.
Reshmi SC, Harvey RC, Roberts KG, Stonerock E, Smith A, Jenkins H, Chen IM, Valentine M, Liu Y, Li Y, Shao Y, Easton J, Payne-Turner D, Gu Z, Tran TH, Nguyen JV, Devidas M, Dai Y, Heerema NA, Carroll AJ 3rd, Raetz EA, Borowitz MJ, Wood BL, Angiolillo AL, Burke MJ, Salzer WL, Zweidler-McKay PA, Rabin KR, Carroll WL, Zhang J, Loh ML, Mullighan CG, Willman CL, Gastier-Foster JM, Hunger SP
Blood 2017 Jun 22;129(25):3352-3361. Epub 2017 Apr 13 doi: 10.1182/blood-2016-12-758979. PMID: 28408464Free PMC Article
New and emerging prognostic and predictive genetic biomarkers in B-cell precursor acute lymphoblastic leukemia.
Moorman AV
Haematologica 2016 Apr;101(4):407-16. doi: 10.3324/haematol.2015.141101. PMID: 27033238Free PMC Article
The molecular basis of leukemia.
Gilliland DG, Jordan CT, Felix CA
Hematology Am Soc Hematol Educ Program 2004:80-97. doi: 10.1182/asheducation-2004.1.80. PMID: 15561678

Prognosis

Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication.
Liu Y, Klein J, Bajpai R, Dong L, Tran Q, Kolekar P, Smith JL, Ries RE, Huang BJ, Wang YC, Alonzo TA, Tian L, Mulder HL, Shaw TI, Ma J, Walsh MP, Song G, Westover T, Autry RJ, Gout AM, Wheeler DA, Wan S, Wu G, Yang JJ, Evans WE, Loh M, Easton J, Zhang J, Klco JM, Meshinchi S, Brown PA, Pruett-Miller SM, Ma X
Nat Commun 2023 Apr 5;14(1):1739. doi: 10.1038/s41467-023-37438-4. PMID: 37019972Free PMC Article
Identification of diagnosis and prognosis gene markers in B-ALL with ETV6-RUNX1 fusion by integrated bioinformatics analysis.
Zhu H, Zhang R, Li R, Wang Z, Li H, Zhong H, Yin L, Ruan X, Ye C, Yuan H, Cheng Z, Peng H
Gene 2022 Mar 20;815:146132. Epub 2022 Jan 6 doi: 10.1016/j.gene.2021.146132. PMID: 34999180
Investigation of lncRNA-mRNA co-expression network in ETV6-RUNX1-positive pediatric B-cell acute lymphoblastic leukemia.
Yu W, Wang W, Yu X
PLoS One 2021;16(6):e0253012. Epub 2021 Jun 8 doi: 10.1371/journal.pone.0253012. PMID: 34101758Free PMC Article
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.
Paietta E, Roberts KG, Wang V, Gu Z, Buck GAN, Pei D, Cheng C, Levine RL, Abdel-Wahab O, Cheng Z, Wu G, Qu C, Shi L, Pounds S, Willman CL, Harvey R, Racevskis J, Barinka J, Zhang Y, Dewald GW, Ketterling RP, Alejos D, Lazarus HM, Luger SM, Foroni L, Patel B, Fielding AK, Melnick A, Marks DI, Moorman AV, Wiernik PH, Rowe JM, Tallman MS, Goldstone AH, Mullighan CG, Litzow MR
Blood 2021 Sep 16;138(11):948-958. doi: 10.1182/blood.2020010144. PMID: 33895809Free PMC Article
Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases.
Li JF, Dai YT, Lilljebjörn H, Shen SH, Cui BW, Bai L, Liu YF, Qian MX, Kubota Y, Kiyoi H, Matsumura I, Miyazaki Y, Olsson L, Tan AM, Ariffin H, Chen J, Takita J, Yasuda T, Mano H, Johansson B, Yang JJ, Yeoh AE, Hayakawa F, Chen Z, Pui CH, Fioretos T, Chen SJ, Huang JY
Proc Natl Acad Sci U S A 2018 Dec 11;115(50):E11711-E11720. Epub 2018 Nov 28 doi: 10.1073/pnas.1814397115. PMID: 30487223Free PMC Article

Clinical prediction guides

Etiology of oncogenic fusions in 5,190 childhood cancers and its clinical and therapeutic implication.
Liu Y, Klein J, Bajpai R, Dong L, Tran Q, Kolekar P, Smith JL, Ries RE, Huang BJ, Wang YC, Alonzo TA, Tian L, Mulder HL, Shaw TI, Ma J, Walsh MP, Song G, Westover T, Autry RJ, Gout AM, Wheeler DA, Wan S, Wu G, Yang JJ, Evans WE, Loh M, Easton J, Zhang J, Klco JM, Meshinchi S, Brown PA, Pruett-Miller SM, Ma X
Nat Commun 2023 Apr 5;14(1):1739. doi: 10.1038/s41467-023-37438-4. PMID: 37019972Free PMC Article
Multi-Cohort Transcriptomic Subtyping of B-Cell Acute Lymphoblastic Leukemia.
Mäkinen VP, Rehn J, Breen J, Yeung D, White DL
Int J Mol Sci 2022 Apr 20;23(9) doi: 10.3390/ijms23094574. PMID: 35562965Free PMC Article
Investigation of lncRNA-mRNA co-expression network in ETV6-RUNX1-positive pediatric B-cell acute lymphoblastic leukemia.
Yu W, Wang W, Yu X
PLoS One 2021;16(6):e0253012. Epub 2021 Jun 8 doi: 10.1371/journal.pone.0253012. PMID: 34101758Free PMC Article
Infection Exposure Promotes ETV6-RUNX1 Precursor B-cell Leukemia via Impaired H3K4 Demethylases.
Rodríguez-Hernández G, Hauer J, Martín-Lorenzo A, Schäfer D, Bartenhagen C, García-Ramírez I, Auer F, González-Herrero I, Ruiz-Roca L, Gombert M, Okpanyi V, Fischer U, Chen C, Dugas M, Bhatia S, Linka RM, Garcia-Suquia M, Rascón-Trincado MV, Garcia-Sanchez A, Blanco O, García-Cenador MB, García-Criado FJ, Cobaleda C, Alonso-López D, De Las Rivas J, Müschen M, Vicente-Dueñas C, Sánchez-García I, Borkhardt A
Cancer Res 2017 Aug 15;77(16):4365-4377. Epub 2017 Jun 19 doi: 10.1158/0008-5472.CAN-17-0701. PMID: 28630052
The molecular basis of leukemia.
Gilliland DG, Jordan CT, Felix CA
Hematology Am Soc Hematol Educ Program 2004:80-97. doi: 10.1182/asheducation-2004.1.80. PMID: 15561678

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