Molecular genetics of thrombotic myeloproliferative neoplasms: implications in precision oncology

Yuh Cai Chia; Mat Jusoh Siti Asmaa; Marini Ramli; Peng Yeong Woon; Muhammad Farid Johan; Rosline Hassan; Md Asiful Islam

doi:10.3390/diagnostics13010163

Molecular genetics of thrombotic myeloproliferative neoplasms: implications in precision oncology

Yuh Cai Chia, Mat Jusoh Siti Asmaa, Marini Ramli^*, Peng Yeong Woon, Muhammad Farid Johan, Rosline Hassan, Md Asiful Islam^*

^*Corresponding author for this work

Metabolism and Systems Research

Research output: Contribution to journal › Review article › peer-review

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Abstract

Classical BCR-ABL-negative myeloproliferative neoplasms (MPN) include polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis. Unlike monogenic disorders, a more complicated series of genetic mutations are believed to be responsible for MPN with various degrees of thromboembolic and bleeding complications. Thrombosis is one of the early manifestations in patients with MPN. To date, the driver genes responsible for MPN include JAK2, CALR, MPL, TET2, ASXL1, and MTHFR. Affords have been done to elucidate these mutations and the incidence of thromboembolic events. Several lines of evidence indicate that mutations in JAK2, MPL, TET2 and ASXL1 gene and polymorphisms in several clotting factors (GPIa, GPIIa, and GPIIIa) are associated with the occurrence and prevalence of thrombosis in MPN patients. Some polymorphisms within XRCC1, FBG, F2, F5, F7, F12, MMP9, HPA5, MTHFR, SDF-1, FAS, FASL, TERT, ACE, and TLR4 genes may also play a role in MPN manifestation. This review aims to provide an insightful overview on the genetic perspective of thrombotic complications in patients with MPN.

Original language	English
Article number	163
Number of pages	29
Journal	Diagnostics
Volume	13
Issue number	1
DOIs	https://doi.org/10.3390/diagnostics13010163
Publication status	Published - 3 Jan 2023

Bibliographical note

Funding Information:
This study was supported by Research University Grant (No. 1001/PPSP/812187), Universiti Sains Malaysia.

Publisher Copyright:
© 2023 by the authors.

Keywords

essential thrombocytosis
gene
mutation
myeloproliferative neoplasms
polycythaemia vera
polymorphism
primary myelofibrosis
thrombosis
Review

ASJC Scopus subject areas

Clinical Biochemistry

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.3390/diagnostics13010163Licence: Creative Commons: Attribution (CC BY)

ChiaY2023MolecularFinal published version, 6.37 MBLicence: Creative Commons: Attribution (CC BY)

Cite this

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title = "Molecular genetics of thrombotic myeloproliferative neoplasms: implications in precision oncology",

abstract = "Classical BCR-ABL-negative myeloproliferative neoplasms (MPN) include polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis. Unlike monogenic disorders, a more complicated series of genetic mutations are believed to be responsible for MPN with various degrees of thromboembolic and bleeding complications. Thrombosis is one of the early manifestations in patients with MPN. To date, the driver genes responsible for MPN include JAK2, CALR, MPL, TET2, ASXL1, and MTHFR. Affords have been done to elucidate these mutations and the incidence of thromboembolic events. Several lines of evidence indicate that mutations in JAK2, MPL, TET2 and ASXL1 gene and polymorphisms in several clotting factors (GPIa, GPIIa, and GPIIIa) are associated with the occurrence and prevalence of thrombosis in MPN patients. Some polymorphisms within XRCC1, FBG, F2, F5, F7, F12, MMP9, HPA5, MTHFR, SDF-1, FAS, FASL, TERT, ACE, and TLR4 genes may also play a role in MPN manifestation. This review aims to provide an insightful overview on the genetic perspective of thrombotic complications in patients with MPN.",

keywords = "essential thrombocytosis, gene, mutation, myeloproliferative neoplasms, polycythaemia vera, polymorphism, primary myelofibrosis, thrombosis, Review",

author = "Chia, {Yuh Cai} and {Siti Asmaa}, {Mat Jusoh} and Marini Ramli and Woon, {Peng Yeong} and Johan, {Muhammad Farid} and Rosline Hassan and Islam, {Md Asiful}",

note = "Funding Information: This study was supported by Research University Grant (No. 1001/PPSP/812187), Universiti Sains Malaysia. Publisher Copyright: {\textcopyright} 2023 by the authors.",

year = "2023",

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T1 - Molecular genetics of thrombotic myeloproliferative neoplasms

T2 - implications in precision oncology

AU - Chia, Yuh Cai

AU - Siti Asmaa, Mat Jusoh

AU - Ramli, Marini

AU - Woon, Peng Yeong

AU - Johan, Muhammad Farid

AU - Hassan, Rosline

AU - Islam, Md Asiful

PY - 2023/1/3

Y1 - 2023/1/3

N2 - Classical BCR-ABL-negative myeloproliferative neoplasms (MPN) include polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis. Unlike monogenic disorders, a more complicated series of genetic mutations are believed to be responsible for MPN with various degrees of thromboembolic and bleeding complications. Thrombosis is one of the early manifestations in patients with MPN. To date, the driver genes responsible for MPN include JAK2, CALR, MPL, TET2, ASXL1, and MTHFR. Affords have been done to elucidate these mutations and the incidence of thromboembolic events. Several lines of evidence indicate that mutations in JAK2, MPL, TET2 and ASXL1 gene and polymorphisms in several clotting factors (GPIa, GPIIa, and GPIIIa) are associated with the occurrence and prevalence of thrombosis in MPN patients. Some polymorphisms within XRCC1, FBG, F2, F5, F7, F12, MMP9, HPA5, MTHFR, SDF-1, FAS, FASL, TERT, ACE, and TLR4 genes may also play a role in MPN manifestation. This review aims to provide an insightful overview on the genetic perspective of thrombotic complications in patients with MPN.

AB - Classical BCR-ABL-negative myeloproliferative neoplasms (MPN) include polycythaemia vera, essential thrombocythaemia, and primary myelofibrosis. Unlike monogenic disorders, a more complicated series of genetic mutations are believed to be responsible for MPN with various degrees of thromboembolic and bleeding complications. Thrombosis is one of the early manifestations in patients with MPN. To date, the driver genes responsible for MPN include JAK2, CALR, MPL, TET2, ASXL1, and MTHFR. Affords have been done to elucidate these mutations and the incidence of thromboembolic events. Several lines of evidence indicate that mutations in JAK2, MPL, TET2 and ASXL1 gene and polymorphisms in several clotting factors (GPIa, GPIIa, and GPIIIa) are associated with the occurrence and prevalence of thrombosis in MPN patients. Some polymorphisms within XRCC1, FBG, F2, F5, F7, F12, MMP9, HPA5, MTHFR, SDF-1, FAS, FASL, TERT, ACE, and TLR4 genes may also play a role in MPN manifestation. This review aims to provide an insightful overview on the genetic perspective of thrombotic complications in patients with MPN.

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KW - myeloproliferative neoplasms

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KW - thrombosis

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Molecular genetics of thrombotic myeloproliferative neoplasms: implications in precision oncology

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

UN SDGs

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