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CEBPA Gene Mutation

MedGen UID:
267449
•Concept ID:
C1511473
•
Cell or Molecular Dysfunction
Synonyms: C/EBP-Alpha Gene Mutation; C/EBPalpha Mutation; CCAAT Enhancer Binding Protein Alpha Gene Mutation; CCAAT/Enhancer Binding Protein, Alpha Gene Mutation; CEBP Gene Mutation; CEBPA Mutation

Definition

Mutation of the CEBPA gene encoding CCAAT/enhancer binding protein alpha. It is seen in acute myeloid leukemias usually associated with a normal karyotype. [from NCI]

Professional guidelines

PubMed

Assessment of 2022 European LeukemiaNet risk classification system in real-world cohort from China.
Chen E, Jiao C, Yu J, Gong Y, Jin D, Ma X, Cui J, Wu Z, Zhou J, Wang H, Su B, Ge J
Cancer Med 2023 Dec;12(24):21615-21626. Epub 2023 Dec 14 doi: 10.1002/cam4.6696. PMID: 38098254Free PMC Article
Acute Myeloid Leukemia: Diagnosis and Management Based on Current Molecular Genetics Approach.
Suguna E, Farhana R, Kanimozhi E, Kumar PS, Kumaramanickavel G, Kumar CS
Cardiovasc Hematol Disord Drug Targets 2018;18(3):199-207. doi: 10.2174/1871529X18666180515130136. PMID: 29766829
Genetic Testing in Acute Myeloid Leukemia and Myelodysplastic Syndromes.
Nardi V, Hasserjian RP
Surg Pathol Clin 2016 Mar;9(1):143-63. doi: 10.1016/j.path.2015.10.004. PMID: 26940274

Recent clinical studies

Etiology

Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations.
Yuan J, He R, Alkhateeb HB
Curr Hematol Malig Rep 2023 Oct;18(5):121-129. Epub 2023 Jun 1 doi: 10.1007/s11899-023-00699-3. PMID: 37261703Free PMC Article

Diagnosis

Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations.
Yuan J, He R, Alkhateeb HB
Curr Hematol Malig Rep 2023 Oct;18(5):121-129. Epub 2023 Jun 1 doi: 10.1007/s11899-023-00699-3. PMID: 37261703Free PMC Article
Aleukemia cutis: Clinicopathological and molecular investigation of two cases.
Azari-Yaam A, Safavi M, Ghanadan A
J Cutan Pathol 2020 Aug;47(8):747-754. Epub 2020 May 12 doi: 10.1111/cup.13690. PMID: 32196719
Molecular evaluation of CEBPA gene mutation in normal karyotype acute myeloid leukemia: a comparison of two methods and report of novel CEBPA mutations from Indian acute myeloid leukemia patients.
Ahmad F, Rajput S, Mandava S, Das BR
Genet Test Mol Biomarkers 2012 Jul;16(7):707-15. Epub 2012 Jun 25 doi: 10.1089/gtmb.2011.0317. PMID: 22731647

Therapy

Aleukemia cutis: Clinicopathological and molecular investigation of two cases.
Azari-Yaam A, Safavi M, Ghanadan A
J Cutan Pathol 2020 Aug;47(8):747-754. Epub 2020 May 12 doi: 10.1111/cup.13690. PMID: 32196719
Molecular evaluation of CEBPA gene mutation in normal karyotype acute myeloid leukemia: a comparison of two methods and report of novel CEBPA mutations from Indian acute myeloid leukemia patients.
Ahmad F, Rajput S, Mandava S, Das BR
Genet Test Mol Biomarkers 2012 Jul;16(7):707-15. Epub 2012 Jun 25 doi: 10.1089/gtmb.2011.0317. PMID: 22731647

Prognosis

Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations.
Yuan J, He R, Alkhateeb HB
Curr Hematol Malig Rep 2023 Oct;18(5):121-129. Epub 2023 Jun 1 doi: 10.1007/s11899-023-00699-3. PMID: 37261703Free PMC Article
Acute myeloid leukemia due to germline CEBPA mutation in a Syrian family.
Wafa A, Ali B, Moassass F, Kheder M, Aljapawe A, Al-Halabi B, Mrasek K, Liehr T, Al-Achkar W
Mol Genet Genomic Med 2022 Feb;10(2):e1854. Epub 2022 Jan 15 doi: 10.1002/mgg3.1854. PMID: 35032366Free PMC Article
Aleukemia cutis: Clinicopathological and molecular investigation of two cases.
Azari-Yaam A, Safavi M, Ghanadan A
J Cutan Pathol 2020 Aug;47(8):747-754. Epub 2020 May 12 doi: 10.1111/cup.13690. PMID: 32196719

Clinical prediction guides

Molecular evaluation of CEBPA gene mutation in normal karyotype acute myeloid leukemia: a comparison of two methods and report of novel CEBPA mutations from Indian acute myeloid leukemia patients.
Ahmad F, Rajput S, Mandava S, Das BR
Genet Test Mol Biomarkers 2012 Jul;16(7):707-15. Epub 2012 Jun 25 doi: 10.1089/gtmb.2011.0317. PMID: 22731647

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