Laboratory evaluation and prognostication among adults and children with CEBPA-mutant acute myeloid leukemia.
AML
CEBPA
flow cytometry
molecular diagnosis
sequencing
Journal
International journal of laboratory hematology
ISSN: 1751-553X
Titre abrégé: Int J Lab Hematol
Pays: England
ID NLM: 101300213
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
received:
28
01
2021
accepted:
25
02
2021
entrez:
21
7
2021
pubmed:
22
7
2021
medline:
10
8
2021
Statut:
ppublish
Résumé
CEBPA-mutant acute myeloid leukemia (AML) encompasses clinically and biologically distinct subtypes of AML in both adults and children. CEBPA-mutant AML may occur with monoallelic (moCEBPA) or biallelic (biCEBPA) mutations, which can be somatic or germline, with each entity impacting prognosis in unique ways. BiCEBPA AML is broadly associated with a favorable prognosis, but differences in the type and location of CEBPA mutations as well as the presence of additional leukemogenic mutations can lead to heterogeneity in survival. Concurrent FLT3-ITD mutations have a well-documented negative effect on survival in adult biCEBPA AML, whereas support for a negative prognostic effect of mutations in TET2, DNMT3A, WT1, CSF3R, ASXL1, and KIT is mixed. NPM1 and GATA2 mutations may have a positive prognostic impact. MoCEBPA AML has similar survival outcomes compared to AML with wild-type CEBPA, and risk stratification is determined by other cytogenetic and molecular findings. Germline CEBPA mutations may lead to familial biCEBPA AML after acquisition of second somatic CEBPA mutation, with variable penetrance and age. BiCEBPA AML in children is likely a favorable-risk diagnosis as it is in adults, but the role of a single CEBPA mutation and the impact of concurrent leukemogenic mutations are not clear in this population. Laboratory evaluation of the CEBPA gene includes PCR-based fragment-length analysis, Sanger sequencing, and next-generation sequencing. Phenotypic analysis using multiparameter flow cytometry can also provide additional data in evaluating CEBPA, helping to assess for the likelihood of mutation presence.
Substances chimiques
Biomarkers
0
Biomarkers, Tumor
0
CCAAT-Enhancer-Binding Proteins
0
CEBPA protein, human
0
NPM1 protein, human
0
Nucleophosmin
117896-08-9
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
86-95Informations de copyright
© 2021 John Wiley & Sons Ltd.
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