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Molecular genetics of thrombotic myeloproliferative neoplasms: implications in precision oncology
Chia, Yuh Cai Siti Asmaa, Mat Jusoh Ramli, Marini Woon, Peng Yeong Johan, Muhammad Farid Hassan, Rosline
Chia, Yuh Cai
Siti Asmaa, Mat Jusoh
Ramli, Marini
Woon, Peng Yeong
Johan, Muhammad Farid
Hassan, Rosline
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Issue Date
2023-01-03
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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.
Citation
Chia YC, Siti Asmaa MJ, Ramli M, Woon PY, Johan MF, Hassan R, Islam MA. Molecular Genetics of Thrombotic Myeloproliferative Neoplasms: Implications in Precision Oncology. Diagnostics. 2023; 13(1):163. https://doi.org/10.3390/diagnostics13010163
Publisher
Journal
Research Unit
PubMed ID
36611455 (pubmed)
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Journal article
Language
en
Description
© 2023 The Authors. Published by MDPI. This is an open access article available under a Creative Commons licence. The published version can be accessed at the following link on the publisher’s website: https://doi.org/10.3390/diagnostics13010163
Series/Report no.
ISSN
2075-4418
EISSN
2075-4418
ISBN
ISMN
Gov't Doc #
Sponsors
This study was supported by Research University Grant (No. 1001/PPSP/812187), Universiti Sains Malaysia.
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Licence for published version: Creative Commons Attribution 4.0 International