A Novel, Ruxolitinib-Sensitive, CCDC6::JAK2 Fusion Gene in a Patient With Atypical, JAK2 Unmutated, Polycythemia Vera-Like, Myeloproliferative Neoplasm.
In our study, we identified a novel, ruxolitinib-sensitive, CCDC6::JAK2 fusion gene as a driver of atypical JAK2-unmutated MPN with a polycythemic phenotype. The CCDC6::JAK2 chimeric protein retains the CCDC6 coiled-coil domain and the JAK2 kinase domain. Dimerization of chimeric proteins through coiled-coil domains promotes JAK2 autophosphorylation leading to constitutive activation of the JAK/STAT signaling pathway.
Authors
Bartalucci Bartalucci, Tarantino Tarantino, Loscocco Loscocco, Enderti Enderti, Colazzo Colazzo, Santi Santi, Parrini Parrini, Balliu Balliu, Boldrini Boldrini, Abbassi Abbassi, Pelo Pelo, Marchetti Marchetti, Guglielmelli Guglielmelli, Vannucchi Vannucchi
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