Molecular Genetics of Thrombotic Myeloproliferative Neoplasms: Implications in Precision Oncology

Overview

Journal Diagnostics (Basel)

Specialty Radiology

Date 2023 Jan 8

PMID 36611455

Authors

Yuh Cai Chia

Mat Jusoh Siti Asmaa

Marini Ramli

Peng Yeong Woon

Muhammad Farid Johan

Rosline Hassan

Md Asiful Islam

Affiliations

Soon will be listed here.

Abstract

Classical -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 , , , , , and . Affords have been done to elucidate these mutations and the incidence of thromboembolic events. Several lines of evidence indicate that mutations in , , and gene and polymorphisms in several clotting factors (, , and ) are associated with the occurrence and prevalence of thrombosis in MPN patients. Some polymorphisms within , , , , , , , , , , , , , , and 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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