Prevalence Of Germline Gene Mutations In Patients With Myeloproliferative Neoplasms With Family History

Philadelphia-negative myeloproliferative neoplasms (MPNs) occur sporadically and are due to somatic mutations in the JAK2 (Janus kinase 2), CALR (calreticulin) and MPL (thrombopoietin receptor) genes. However, data from epidemiological and family studies clearly highlight a heritable component that influences the risk of developing MPN and potentially contributes to the observed phenotypic pleiotropy. Genome-wide association studies in MPN familial clusters have identified a number of germline genetic variants associated with an increased risk of developing MPN. The strongest association discovered so far is the presence of the JAK2 46/1 haplotype and, subsequently, several studies have found additional variants in other genes, particularly in the TERT gene. The aim of the study would be to investigate the presence of germline mutations in MPN patients selected on the basis of a family history of myeloid neoplasms through the analysis of both already recognized genes and other potentially implicated ones.

NCT Number	NCT06923670
Lead Sponsor	Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Conditions	Polycythemia Vera, Essential Thrombocythaemia, Myelofibrosis
Enrollment	496 participants
Start Date	2025-05-21
Primary Completion	2028-05-01 (estimated)
Study Completion	2028-05-01 (estimated)
Updated on ClinicalTrials.gov	2025-05-15