Clonal Evolution of Acute Myeloid Leukemia with CEBPA Double Mutations after Long-Term Remission: Case Report and a Literature Review

Liu, Ying; Long, Shijun

doi:10.4274/tjh.galenos.2018.0218.0215

Cited by 1 publication

(1 citation statement)

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“…Clonal evolution is an important aspect of AML biology and we therefore surveyed the limited number of reports describing paired analyses of diagnostic and relapse CEBPAbi samples (Tiesmeier et al , ; Shih et al , ; Grossmann et al , ; Tawana et al , ; Li & Su, ). Given the different technologies used in these studies, and the limited sample numbers, it was not possible to discern any patterns of changes in the presence of co‐occurring mutations.…”

Section: Clonal Evolution In Cebpa Biallelic Amlmentioning

confidence: 99%

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

Wilhelmson

Porse

2020

Br J Haematol

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Summary 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.

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