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Published on: December 7, 2014
A Novel, Ruxolitinib-Sensitive, CCDC6::JAK2 Fusion Gene in a Patient With Atypical, JAK2 Unmutated, Polycythemia
Niccolò Bartalucci1, Danilo Tarantino1, Giuseppe G Loscocco1
1Department of Experimental and Clinical Medicine, Centro di Ricerca e Innovazione Malattie Mieloproliferative (CRIMM), AOU Careggi, University of Florence, Florence, Italy.
Abstract:
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.
Insights
Researchers discovered a new CCDC6::JAK2 fusion gene driving myeloproliferative neoplasms (MPN) without JAK2 mutations. This fusion protein activates the JAK/STAT pathway, making MPN sensitive to ruxolitinib treatment.
Area of Science:
- Hematology
- Molecular Biology
- Oncology
Background:
- Myeloproliferative neoplasms (MPN) are a group of blood cancers characterized by the overproduction of myeloid cells.
- While JAK2 mutations are common drivers in MPN, atypical cases lacking these mutations present diagnostic and therapeutic challenges.
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