A Novel, Ruxolitinib‐Sensitive, <scp> <i>CCDC6</i> </scp> :: <scp> <i>JAK2</i> </scp> Fusion Gene in a Patient With Atypical, <scp> <i>JAK2</i> </scp> 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
- Paola Guglielmelli (ORCID: https://orcid.org/0000-0003-1809-284X)
- Danilo Tarantino
- Elisabetta Pelo (ORCID: https://orcid.org/0000-0002-9712-6501)
- Alessio Enderti
- Manjola Balliu (ORCID: https://orcid.org/0000-0003-3387-812X)
- Alessandro Maria Vannucchi (ORCID: https://orcid.org/0000-0001-5755-0730)
- Giuseppe Gaetano Loscocco (ORCID: https://orcid.org/0000-0002-6241-1206)
- Yasmine Abbassi (ORCID: https://orcid.org/0009-0008-6288-4362)
- Niccolò Bartalucci (ORCID: https://orcid.org/0000-0002-9328-3948)
- Daniele Colazzo
- Monia Marchetti
- Valentina Boldrini (ORCID: https://orcid.org/0000-0001-5463-4736)
- Raffaella Santi
- Daniela Parrini
Institutions
- Azienda Ospedaliero-Universitaria Careggi (IT)
- Istituto Nazionale di Documentazione Innovazione e Ricerca Educativa (IT)
- Azienda Sanitaria Locale Alessandria (IT)
- University of Florence (IT)
Publication Details
- Journal
- American Journal of Hematology
- Published
- 2025-12-03
- DOI
- https://doi.org/10.1002/ajh.70156
- Primary Topic
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Associazione Italiana per la Ricerca sul Cancro