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Acute Myeloid Leukemia with Monoallelic CEBPA Mutation

MedGen UID:
1381306
•Concept ID:
C4329270
•
Neoplastic Process
Synonym: Acute Myeloid Leukemia with Monoallelic Mutations of CEBPA

Definition

An acute myeloid leukemia with single mutations of the CEBPA gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcute Myeloid Leukemia with Monoallelic CEBPA Mutation

Recent clinical studies

Etiology

Impact of different CEBPA mutations on therapeutic outcome in acute myeloid leukemia.
Zhao Y, Huang Y, Jiang L, Zhang Y, Liu F, Yan P, Yu G, Liu J, Jiang X
Ann Hematol 2024 Sep;103(9):3595-3604. Epub 2024 Jul 18 doi: 10.1007/s00277-024-05884-9. PMID: 39020042
CEBPA mutations in 4708 patients with acute myeloid leukemia: differential impact of bZIP and TAD mutations on outcome.
Taube F, Georgi JA, Kramer M, Stasik S, Middeke JM, Röllig C, Krug U, Krämer A, Scholl S, Hochhaus A, Brümmendorf TH, Naumann R, Petzold A, Mulet-Lazaro R, Valk PJM, Steffen B, Einsele H, Schaich M, Burchert A, Neubauer A, Schäfer-Eckart K, Schliemann C, Krause SW, Hänel M, Noppeney R, Kaiser U, Baldus CD, Kaufmann M, Herold S, Stölzel F, Sockel K, von Bonin M, Müller-Tidow C, Platzbecker U, Berdel WE, Serve H, Ehninger G, Bornhäuser M, Schetelig J, Thiede C; Study Alliance Leukemia (SAL)
Blood 2022 Jan 6;139(1):87-103. doi: 10.1182/blood.2020009680. PMID: 34320176
Laboratory evaluation and prognostication among adults and children with CEBPA-mutant acute myeloid leukemia.
Mendoza H, Podoltsev NA, Siddon AJ
Int J Lab Hematol 2021 Jul;43 Suppl 1:86-95. doi: 10.1111/ijlh.13517. PMID: 34288448
CEBPA-bZip mutations are associated with favorable prognosis in de novo AML: a report from the Children's Oncology Group.
Tarlock K, Lamble AJ, Wang YC, Gerbing RB, Ries RE, Loken MR, Brodersen LE, Pardo L, Leonti A, Smith JL, Hylkema TA, Woods WG, Cooper TM, Kolb EA, Gamis AS, Aplenc R, Alonzo TA, Meshinchi S
Blood 2021 Sep 30;138(13):1137-1147. doi: 10.1182/blood.2020009652. PMID: 33951732Free PMC Article
Long-term follow-up of cytogenetically normal CEBPA-mutated AML.
Pastore F, Kling D, Hoster E, Dufour A, Konstandin NP, Schneider S, Sauerland MC, Berdel WE, Buechner T, Woermann B, Braess J, Hiddemann W, Spiekermann K
J Hematol Oncol 2014 Sep 10;7:55. doi: 10.1186/s13045-014-0055-7. PMID: 25214041Free PMC Article

Diagnosis

Impact of different CEBPA mutations on therapeutic outcome in acute myeloid leukemia.
Zhao Y, Huang Y, Jiang L, Zhang Y, Liu F, Yan P, Yu G, Liu J, Jiang X
Ann Hematol 2024 Sep;103(9):3595-3604. Epub 2024 Jul 18 doi: 10.1007/s00277-024-05884-9. PMID: 39020042
CEBPA mutations in 4708 patients with acute myeloid leukemia: differential impact of bZIP and TAD mutations on outcome.
Taube F, Georgi JA, Kramer M, Stasik S, Middeke JM, Röllig C, Krug U, Krämer A, Scholl S, Hochhaus A, Brümmendorf TH, Naumann R, Petzold A, Mulet-Lazaro R, Valk PJM, Steffen B, Einsele H, Schaich M, Burchert A, Neubauer A, Schäfer-Eckart K, Schliemann C, Krause SW, Hänel M, Noppeney R, Kaiser U, Baldus CD, Kaufmann M, Herold S, Stölzel F, Sockel K, von Bonin M, Müller-Tidow C, Platzbecker U, Berdel WE, Serve H, Ehninger G, Bornhäuser M, Schetelig J, Thiede C; Study Alliance Leukemia (SAL)
Blood 2022 Jan 6;139(1):87-103. doi: 10.1182/blood.2020009680. PMID: 34320176
Laboratory evaluation and prognostication among adults and children with CEBPA-mutant acute myeloid leukemia.
Mendoza H, Podoltsev NA, Siddon AJ
Int J Lab Hematol 2021 Jul;43 Suppl 1:86-95. doi: 10.1111/ijlh.13517. PMID: 34288448
CEBPA-bZip mutations are associated with favorable prognosis in de novo AML: a report from the Children's Oncology Group.
Tarlock K, Lamble AJ, Wang YC, Gerbing RB, Ries RE, Loken MR, Brodersen LE, Pardo L, Leonti A, Smith JL, Hylkema TA, Woods WG, Cooper TM, Kolb EA, Gamis AS, Aplenc R, Alonzo TA, Meshinchi S
Blood 2021 Sep 30;138(13):1137-1147. doi: 10.1182/blood.2020009652. PMID: 33951732Free PMC Article
Development of acute myeloid leukemia in patients with untreated chronic lymphocytic leukemia.
Ito S, Fujiwara SI, Mashima K, Umino K, Minakata D, Nakano H, Yamasaki R, Kawasaki Y, Sugimoto M, Ashizawa M, Yamamoto C, Hatano K, Okazuka K, Sato K, Oh I, Ohmine K, Suzuki T, Muroi K, Kanda Y
Ann Hematol 2017 May;96(5):719-724. Epub 2017 Feb 1 doi: 10.1007/s00277-017-2933-x. PMID: 28144729

Therapy

CEBPA-bZip mutations are associated with favorable prognosis in de novo AML: a report from the Children's Oncology Group.
Tarlock K, Lamble AJ, Wang YC, Gerbing RB, Ries RE, Loken MR, Brodersen LE, Pardo L, Leonti A, Smith JL, Hylkema TA, Woods WG, Cooper TM, Kolb EA, Gamis AS, Aplenc R, Alonzo TA, Meshinchi S
Blood 2021 Sep 30;138(13):1137-1147. doi: 10.1182/blood.2020009652. PMID: 33951732Free PMC Article
Long-term follow-up of cytogenetically normal CEBPA-mutated AML.
Pastore F, Kling D, Hoster E, Dufour A, Konstandin NP, Schneider S, Sauerland MC, Berdel WE, Buechner T, Woermann B, Braess J, Hiddemann W, Spiekermann K
J Hematol Oncol 2014 Sep 10;7:55. doi: 10.1186/s13045-014-0055-7. PMID: 25214041Free PMC Article
Normal karyotype acute myeloid leukemia with the CD7+ CD15+ CD34+ HLA-DR + immunophenotype is a clinically distinct entity with a favorable outcome.
Iriyama N, Asou N, Miyazaki Y, Yamaguchi S, Sato S, Sakura T, Maeda T, Handa H, Takahashi M, Ohtake S, Hatta Y, Sakamaki H, Honda S, Taki T, Taniwaki M, Miyawaki S, Ohnishi K, Kobayashi Y, Naoe T
Ann Hematol 2014 Jun;93(6):957-63. Epub 2014 Jan 19 doi: 10.1007/s00277-014-2013-4. PMID: 24441947
GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia.
Greif PA, Dufour A, Konstandin NP, Ksienzyk B, Zellmeier E, Tizazu B, Sturm J, Benthaus T, Herold T, Yaghmaie M, Dörge P, Hopfner KP, Hauser A, Graf A, Krebs S, Blum H, Kakadia PM, Schneider S, Hoster E, Schneider F, Stanulla M, Braess J, Sauerland MC, Berdel WE, Büchner T, Woermann BJ, Hiddemann W, Spiekermann K, Bohlander SK
Blood 2012 Jul 12;120(2):395-403. Epub 2012 May 30 doi: 10.1182/blood-2012-01-403220. PMID: 22649106
Monoallelic CEBPA mutations in normal karyotype acute myeloid leukemia: independent favorable prognostic factor within NPM1 mutated patients.
Dufour A, Schneider F, Hoster E, Benthaus T, Ksienzyk B, Schneider S, Kakadia PM, Sauerland MC, Berdel WE, Büchner T, Wörmann B, Braess J, Subklewe M, Hiddemann W, Bohlander SK, Spiekermann K; AML CG study group
Ann Hematol 2012 Jul;91(7):1051-63. Epub 2012 Feb 24 doi: 10.1007/s00277-012-1423-4. PMID: 22362118

Prognosis

CEBPA mutations in 4708 patients with acute myeloid leukemia: differential impact of bZIP and TAD mutations on outcome.
Taube F, Georgi JA, Kramer M, Stasik S, Middeke JM, Röllig C, Krug U, Krämer A, Scholl S, Hochhaus A, Brümmendorf TH, Naumann R, Petzold A, Mulet-Lazaro R, Valk PJM, Steffen B, Einsele H, Schaich M, Burchert A, Neubauer A, Schäfer-Eckart K, Schliemann C, Krause SW, Hänel M, Noppeney R, Kaiser U, Baldus CD, Kaufmann M, Herold S, Stölzel F, Sockel K, von Bonin M, Müller-Tidow C, Platzbecker U, Berdel WE, Serve H, Ehninger G, Bornhäuser M, Schetelig J, Thiede C; Study Alliance Leukemia (SAL)
Blood 2022 Jan 6;139(1):87-103. doi: 10.1182/blood.2020009680. PMID: 34320176
Laboratory evaluation and prognostication among adults and children with CEBPA-mutant acute myeloid leukemia.
Mendoza H, Podoltsev NA, Siddon AJ
Int J Lab Hematol 2021 Jul;43 Suppl 1:86-95. doi: 10.1111/ijlh.13517. PMID: 34288448
CEBPA-bZip mutations are associated with favorable prognosis in de novo AML: a report from the Children's Oncology Group.
Tarlock K, Lamble AJ, Wang YC, Gerbing RB, Ries RE, Loken MR, Brodersen LE, Pardo L, Leonti A, Smith JL, Hylkema TA, Woods WG, Cooper TM, Kolb EA, Gamis AS, Aplenc R, Alonzo TA, Meshinchi S
Blood 2021 Sep 30;138(13):1137-1147. doi: 10.1182/blood.2020009652. PMID: 33951732Free PMC Article
Development of acute myeloid leukemia in patients with untreated chronic lymphocytic leukemia.
Ito S, Fujiwara SI, Mashima K, Umino K, Minakata D, Nakano H, Yamasaki R, Kawasaki Y, Sugimoto M, Ashizawa M, Yamamoto C, Hatano K, Okazuka K, Sato K, Oh I, Ohmine K, Suzuki T, Muroi K, Kanda Y
Ann Hematol 2017 May;96(5):719-724. Epub 2017 Feb 1 doi: 10.1007/s00277-017-2933-x. PMID: 28144729
Favorable prognosis of biallelic CEBPA gene mutations in acute myeloid leukemia patients: a meta-analysis.
Li HY, Deng DH, Huang Y, Ye FH, Huang LL, Xiao Q, Zhang B, Ye BB, Lai YR, Mo ZN, Liu ZF
Eur J Haematol 2015 May;94(5):439-48. Epub 2015 Jan 22 doi: 10.1111/ejh.12450. PMID: 25227715

Clinical prediction guides

Impact of different CEBPA mutations on therapeutic outcome in acute myeloid leukemia.
Zhao Y, Huang Y, Jiang L, Zhang Y, Liu F, Yan P, Yu G, Liu J, Jiang X
Ann Hematol 2024 Sep;103(9):3595-3604. Epub 2024 Jul 18 doi: 10.1007/s00277-024-05884-9. PMID: 39020042
Integrative study of EZH2 mutational status, copy number, protein expression and H3K27 trimethylation in AML/MDS patients.
Stomper J, Meier R, Ma T, Pfeifer D, Ihorst G, Blagitko-Dorfs N, Greve G, Zimmer D, Platzbecker U, Hagemeijer A, Schmitt-Graeff I, Lübbert M
Clin Epigenetics 2021 Apr 12;13(1):77. doi: 10.1186/s13148-021-01052-2. PMID: 33845873Free PMC Article
Decision Analysis of Postremission Therapy in Cytogenetically Intermediate-Risk Acute Myeloid Leukemia: The Impact of FLT3 Internal Tandem Duplication, Nucleophosmin, and CCAAT/Enhancer Binding Protein Alpha.
Kurosawa S, Yamaguchi H, Yamaguchi T, Fukunaga K, Yui S, Wakita S, Kanamori H, Usuki K, Uoshima N, Yanada M, Shono K, Ueki T, Mizuno I, Yano S, Takeuchi J, Kanda J, Okamura H, Inamoto Y, Inokuchi K, Fukuda T
Biol Blood Marrow Transplant 2016 Jun;22(6):1125-1132. Epub 2016 Mar 31 doi: 10.1016/j.bbmt.2016.03.015. PMID: 27040395
Long-term follow-up of cytogenetically normal CEBPA-mutated AML.
Pastore F, Kling D, Hoster E, Dufour A, Konstandin NP, Schneider S, Sauerland MC, Berdel WE, Buechner T, Woermann B, Braess J, Hiddemann W, Spiekermann K
J Hematol Oncol 2014 Sep 10;7:55. doi: 10.1186/s13045-014-0055-7. PMID: 25214041Free PMC Article

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