Genomic alterations in blast phase of BCR::ABL1-negative myeloproliferative neoplasms.
ASXL1
EZH2
IDH1
IDH2
KRAS
NRAS
PTPN11
RUNX1
SH2B3/LNK
SRSF2
TET2
TP53
U2AF1
blast phase of myeloproliferative neoplasm
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:
Dec 2023
Dec 2023
Historique:
received:
03
05
2023
accepted:
23
09
2023
medline:
17
11
2023
pubmed:
23
10
2023
entrez:
23
10
2023
Statut:
ppublish
Résumé
The blast phase of BCR::ABL1-negative myeloproliferative neoplasm (MPN-BP) represents the final stage of the disease, which is complicated by complex genomic alterations. These alterations result from sequence changes in genetic material (DNA, RNA) and can lead to either a gain or loss of function of encoded proteins, such as adaptor proteins, enzymes, components of spliceosomes, cell cycle checkpoints regulators, transcription factors, or proteins in cell signaling pathways. Interference at various levels, including transcription, translation, and post-translational modification (such as methylation, dephosphorylation, or acetylation), can contribute to these alterations. Mutated genes such as ASXL1, EZH2, IDH1, IDH2, TET2, SRSF2, U2AF1, TP53, NRAS, KRAS, PTPN11, SH2B3/LNK, and RUNX1 play active roles at different stages of genetic material expression, modification, and protein function manipulation in MPNs. These mutations are also correlated with, and can contribute to, the progression of MPN-BP. In this review, we summarize their common mutational profiles, functions, and associations with progression of MPN-BP.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
839-844Informations de copyright
© 2023 John Wiley & Sons Ltd.
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