TY - JOUR
T1 - Genomic alterations in blast phase of BCR::ABL1-negative myeloproliferative neoplasms
AU - Chen, Dong
AU - Weinberg, Olga K.
N1 - Publisher Copyright:
© 2023 John Wiley & Sons Ltd.
PY - 2023/12
Y1 - 2023/12
N2 - 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.
AB - 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.
KW - ASXL1
KW - EZH2
KW - IDH1
KW - IDH2
KW - KRAS
KW - NRAS
KW - PTPN11
KW - RUNX1
KW - SH2B3/LNK
KW - SRSF2
KW - TET2
KW - TP53
KW - U2AF1
KW - blast phase of myeloproliferative neoplasm
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U2 - 10.1111/ijlh.14184
DO - 10.1111/ijlh.14184
M3 - Review article
C2 - 37867386
AN - SCOPUS:85174627723
SN - 1751-5521
VL - 45
SP - 839
EP - 844
JO - International Journal of Laboratory Hematology
JF - International Journal of Laboratory Hematology
IS - 6
ER -