Molecular Studies for the Early Detection of Philadelphia-Negative Myeloproliferative Neoplasms
نویسندگان
چکیده
JAK2 V617F is the predominant driver mutation in patients with Philadelphia-negative myeloproliferative neoplasms (MPN). mutations are also frequent clonal hematopoiesis of indeterminate potential (CHIP) otherwise “healthy” individuals. However, period between acquisition and MPN diagnosis (known as latency) varies widely individuals, detectable several decades before even from birth some Here, we will review current evidence on biological factors, such additional chronic inflammation, which influence expansion may determine why JAK2-mutated individuals progress to an overt neoplasm during their lifetime while others not. We introduce germline variants that predispose CHIP (as well MPN) identified genome-wide association studies. Finally, explore possible screening or interventions could help minimize MPN-associated cardiovascular complications delay malignant progression.
منابع مشابه
Molecular biology of Philadelphia-negative myeloproliferative neoplasms
Myeloproliferative neoplasms are clonal diseases of hematopoietic stem cells characterized by myeloid hyperplasia and increased risk of developing acute myeloid leukemia. Myeloproliferative neoplasms are caused, as any other malignancy, by genetic defects that culminate in the neoplastic phenotype. In the past six years, since the identification of JAK2V617F, we have experienced a substantial i...
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Chronic myeloproliferative diseases without the Philadelphia chromosome marker (Ph-), although first described 60 years ago, only became the subject of interest after the turn of the millennium. In 2001, the World Health Organization (WHO) defined the classification of this group of diseases and in 2008 they were renamed myeloproliferative neoplasms based on morphological, cytogenetic and molec...
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Despite the emergence of JAK inhibitors, there is a need for disease-modifying treatments for Philadelphia-negative myeloproliferative neoplasms (MPNs). JAK inhibitors ameliorate symptoms and address splenomegaly, but because of the heterogeneous contributors to the disease process, JAK inhibitor monotherapy incompletely addresses the burden of disease. The ever-growing understanding of MPN pat...
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ژورنال
عنوان ژورنال: International Journal of Molecular Sciences
سال: 2023
ISSN: ['1661-6596', '1422-0067']
DOI: https://doi.org/10.3390/ijms241612700