Please use this identifier to cite or link to this item: http://hdl.handle.net/10553/124331
Title: Molecular Studies for the Early Detection of Philadelphia-Negative Myeloproliferative Neoplasms
Authors: Stuckey, Ruth
Bilbao Sieyro, Cristina 
Segura Díaz, Adrian 
Gómez Casares, María Teresa 
UNESCO Clasification: 32 Ciencias médicas
320713 Oncología
320102 Genética clínica
Keywords: Clonal Expansion
Clonal Hematopoiesis Of Indeterminate Potential (Chip)
Fitness
Intervention
Philadelphia-Negative Myeloproliferative Neoplasms, et al
Issue Date: 2023
Journal: International Journal of Molecular Sciences 
Abstract: JAK2 V617F is the predominant driver mutation in patients with Philadelphia-negative myeloproliferative neoplasms (MPN). JAK2 mutations are also frequent in clonal hematopoiesis of indeterminate potential (CHIP) in otherwise “healthy” individuals. However, the period between mutation acquisition and MPN diagnosis (known as latency) varies widely between individuals, with JAK2 mutations detectable several decades before diagnosis and even from birth in some individuals. Here, we will review the current evidence on the biological factors, such as additional mutations and chronic inflammation, which influence clonal expansion and may determine why some JAK2-mutated individuals will progress to an overt neoplasm during their lifetime while others will not. We will also introduce several germline variants that predispose individuals to CHIP (as well as MPN) identified from genome-wide association studies. Finally, we will explore possible mutation screening or interventions that could help to minimize MPN-associated cardiovascular complications or even delay malignant progression.
URI: http://hdl.handle.net/10553/124331
ISSN: 1661-6596
DOI: 10.3390/ijms241612700
Source: International Journal of Molecular Sciences[ISSN 1661-6596],v. 24 (16), (Agosto 2023)
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