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CCAAT enhancer binding protein alpha (CEBPA) biallelic acute myeloid leukaemia: cooperating lesions, molecular mechanisms and clinical relevance

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@article{7a074a0a710b44f79496bd54ad3477d6,
title = "CCAAT enhancer binding protein alpha (CEBPA) biallelic acute myeloid leukaemia: cooperating lesions, molecular mechanisms and clinical relevance",
abstract = "Recent advances in sequencing technologies have allowed for the identification of recurrent mutations in acute myeloid leukaemia (AML). The transcription factor CCAAT enhancer binding protein alpha (CEBPA) is frequently mutated in AML, and biallelic CEBPA-mutant AML was recognised as a separate disease entity in the recent World Health Organization classification. However, CEBPA mutations are co-occurring with other aberrations in AML, and together these lesions form the clonal hierarchy that comprises the leukaemia in the patient. Here, we aim to review the current understanding of co-occurring mutations in CEBPA-mutated AML and their implications for disease biology and clinical outcome. We will put emphasis on patterns of cooperation, how these lesions cooperate with CEBPA mutations and the underlying potential molecular mechanisms. Finally, we will relate this to patient outcome and future options for personalised medicine.",
keywords = "CEBPA biallelic acute myeloid leukaemia, co-occurring mutations, disease modelling, molecular haematology",
author = "Wilhelmson, {Anna S} and Porse, {Bo T}",
note = "{\textcopyright} 2020 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.",
year = "2020",
month = aug,
day = "1",
doi = "10.1111/bjh.16534",
language = "English",
volume = "190",
pages = "495--507",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "Wiley-Blackwell Publishing Ltd",
number = "4",

}

RIS

TY - JOUR

T1 - CCAAT enhancer binding protein alpha (CEBPA) biallelic acute myeloid leukaemia

T2 - cooperating lesions, molecular mechanisms and clinical relevance

AU - Wilhelmson, Anna S

AU - Porse, Bo T

N1 - © 2020 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.

PY - 2020/8/1

Y1 - 2020/8/1

N2 - Recent advances in sequencing technologies have allowed for the identification of recurrent mutations in acute myeloid leukaemia (AML). The transcription factor CCAAT enhancer binding protein alpha (CEBPA) is frequently mutated in AML, and biallelic CEBPA-mutant AML was recognised as a separate disease entity in the recent World Health Organization classification. However, CEBPA mutations are co-occurring with other aberrations in AML, and together these lesions form the clonal hierarchy that comprises the leukaemia in the patient. Here, we aim to review the current understanding of co-occurring mutations in CEBPA-mutated AML and their implications for disease biology and clinical outcome. We will put emphasis on patterns of cooperation, how these lesions cooperate with CEBPA mutations and the underlying potential molecular mechanisms. Finally, we will relate this to patient outcome and future options for personalised medicine.

AB - Recent advances in sequencing technologies have allowed for the identification of recurrent mutations in acute myeloid leukaemia (AML). The transcription factor CCAAT enhancer binding protein alpha (CEBPA) is frequently mutated in AML, and biallelic CEBPA-mutant AML was recognised as a separate disease entity in the recent World Health Organization classification. However, CEBPA mutations are co-occurring with other aberrations in AML, and together these lesions form the clonal hierarchy that comprises the leukaemia in the patient. Here, we aim to review the current understanding of co-occurring mutations in CEBPA-mutated AML and their implications for disease biology and clinical outcome. We will put emphasis on patterns of cooperation, how these lesions cooperate with CEBPA mutations and the underlying potential molecular mechanisms. Finally, we will relate this to patient outcome and future options for personalised medicine.

KW - CEBPA biallelic acute myeloid leukaemia

KW - co-occurring mutations

KW - disease modelling

KW - molecular haematology

UR - http://www.scopus.com/inward/record.url?scp=85089610007&partnerID=8YFLogxK

U2 - 10.1111/bjh.16534

DO - 10.1111/bjh.16534

M3 - Review

C2 - 32086816

VL - 190

SP - 495

EP - 507

JO - British Journal of Haematology

JF - British Journal of Haematology

SN - 0007-1048

IS - 4

ER -

ID: 59691377