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CEBPA mutation in acute myeloid leukemia: prognostic impact of bZIP domain mutation Cover

CEBPA mutation in acute myeloid leukemia: prognostic impact of bZIP domain mutation

By:
Raj Roy and  Prithibi Das  
Open Access
|Oct 2024

Figures & Tables

Figure 1:

Frequency distribution of mutations reported in studies separated on the basis of author’s name.
Frequency distribution of mutations reported in studies separated on the basis of author’s name.

Figure 2:

Comparison of percentage frequency of CEBPAmu found out of total study population.
Comparison of percentage frequency of CEBPAmu found out of total study population.

Figure 3:

Complete remission (CR) rate percentage in the three studies.
Complete remission (CR) rate percentage in the three studies.

Figure 4:

Overall survival (OS) rate in percentage in the three studies, showing favorable prognosis.
Overall survival (OS) rate in percentage in the three studies, showing favorable prognosis.

WHO classification (WHO-HAEM5) of AML_

WHO 2022
AML with defining genetic abnormalities (no blast % cut-off, except*)
AML with RUNX1::RUNX1T1 fusion
AML with CBFB::MYH11 fusion
Acute promyelocytic leukemia with PML::RARA fusion
AML with KMT2A rearrangement
AML with DEK::NUP214 fusion
AML with MECOM rearrangement
AML with RBM15::MRTFA fusion
AML with BCR::ABL1 fusion*
AML with NUP98 rearrangement
AML with other (rare) defined genetic alterations*
AML with NPM1 mutation
AML with CEBPA mutation*#
AML requiring equal or greater than 20% blasts
AML, myelodysplasia-related
Therapy-related myeloid neoplasms
NA (BECOMING NEW ENTITY OF SECONDARY MYELOID NEOPLAMS)
AML, defined by differentiation
AML with minimal differentiation
AML without maturation
AML with maturation
Acute myelomonocytic leukemia
Acute monoblastic/monocytic leukemia
Pure erythroid leukemia
Acute megakaryoblastic leukemia
Acute basophilic leukemia
Myeloid sarcoma

International Consensus Classification (ICC) 2022 of AML_

ICC 2022
AML with recurrent genetic abnormalities (requiring equal or greater than 10% blasts, except*)
AML with t(8;21)(q22;q22.1)/RUNX1::RUNX1T1
AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)/CBFB::MYH11
Acute promyelocytic leukemia (APL) with t(15;17) (q24.1;q21.2)/PML::RARA; APL with other RARA rearrangements
AML with t(9;11)(p21.3;q23.3)/MLLT3::KMT2A; AML with other KMT2A rearrangements
AML with t(6;9)(p22.3;q34.1)/DEK::NUP214
AML with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2)/GATA2::MECOM(EVI1); AML with other MECOM rearrangements
AML with BCR::ABL1 fusion*
AML with other rare recurring translocations
AML with mutated NPM1
AML with in-frame bZIP CEBPA mutations
AML requiring equal or greater than 20% blasts**
AML with mutated TP53 (VAF >10%)
AML with myelodysplasia-related gene mutations
AML with myelodysplasia-related cytogenetic abnormalities
Therapy-related myeloid neoplasms
NA (BECOMING DIAGNOSTIC QUALIFIER)
AML not otherwise specified; subtyping optional
AML with minimal differentiation
AML without maturation
AML with maturation
Acute myelomonocytic leukemia
Acute monoblastic/monocytic leukemia
Pure erythroid leukemia***
Acute megakaryoblastic leukemia
Acute basophilic leukemia
Myeloid sarcoma

ELN AML risk classification_

Risk categoryGenetic abnormality
Favorable
  • t(8;21)(q22;q22.1)/RUNX1::RUNX1T1,

  • inv(16)(p13.1q22) or t(16;16)(p13.1;q22)/CBFB::MYH11,

  • Mutated NPM1,§ without FLT3-ITD

  • bZIP in-frame mutated CEBPA

Intermediate
  • Mutated NPM1,§ with FLT3-ITD

  • Wild-type NPM1 with FLT3-ITD (without adverse-risk genetic lesions)

  • t(9;11)(p21.3;q23.3)/MLLT3::/KMT2A,

  • Cytogenetic and/or molecular abnormalities not classified as favorable or adverse

Adverse
  • t(6;9)(p23.3;q34.1)/DEK::NUP214

  • t(v;11q23.3)/KMT2A-rearranged#

  • t(9;22)(q34.1;q11.2)/BCR::ABL1

  • t(8;16)(p11.2;p13.3)/KAT6A:CREBBP

  • inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2)/GATA2, MECOM(EVI1)

  • t(3q26.2;v)/MECOM(EVI1)-rearranged

  • −5 or del(5q); −7; −17/abn(17p)

  • Complex karyotype,** monosomal karyotypett††

  • Mutated ASXL1, BCOR, EZH2, RUNX1, SF3B1, SRSF2, STAG2, U2AF1, and/or ZRSR2‡‡

  • Mutated TP53a

DOI: https://doi.org/10.2478/fco-2023-0037 | Journal eISSN: 1792-362X | Journal ISSN: 1792-345X
Language: English
Page range: 29 - 35
Submitted on: Feb 4, 2024
Accepted on: Jun 24, 2024
Published on: Oct 28, 2024
Published by: Helenic Society of Medical Oncology
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year

© 2024 Raj Roy, Prithibi Das, published by Helenic Society of Medical Oncology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.