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

Raj Roy

Raj Roy

North Bengal Medical CollegeSiliguri, India
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Roy, Raj
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Prithibi Das

Prithibi Das

North Bengal Medical CollegeSiliguri, India
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Das, Prithibi
  
Oct 28, 2024
CEBPA mutation in acute myeloid leukemia: prognostic impact of bZIP domain mutation's Cover Image
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Article Category: Research Article
Published Online: Oct 28, 2024
Page range: 29 - 35
Received: Feb 04, 2024
Accepted: Jun 24, 2024
DOI: https://doi.org/10.2478/fco-2023-0037
Keywords
© 2024 Raj Roy et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

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 category† Genetic 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
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