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.

PubMed

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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