Chromosome 9p trisomy increases stem cells clonogenic potential and fosters T-cell exhaustion in JAK2-mutant myeloproliferative neoplasms.

doi:10.1038/s41375-024-02373-w

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Chromosome 9p trisomy increases stem cells clonogenic potential and fosters T-cell exhaustion in JAK2-mutant myeloproliferative neoplasms.

Leukemia - 1 Oct 2024

Carretta Chiara, Parenti Sandra, Bertesi Matteo, Rontauroli Sebastiano, Badii Filippo, Tavernari Lara, Genovese Elena, Malerba Marica, Papa Elisa, Sperduti Samantha, Enzo Elena, Mirabile Margherita, Pedrazzi Francesca, Neroni Anita, Tombari Camilla, Mora Barbara, Maffioli Margherita, Mondini Marco, Brociner Marco, Maccaferri Monica, Tenedini Elena, Martinelli Silvia, Bartalucci Niccolò, Bianchi Elisa, Casarini Livio, Potenza Leonardo, Luppi Mario, Tagliafico Enrico, Guglielmelli Paola, Simoni Manuela, Passamonti Francesco, Norfo Ruggiero, Vannucchi Alessandro Maria, Manfredini Rossella

Abstract excerpt

JAK2V617F is the most recurrent genetic mutation in Philadelphia-negative chronic Myeloproliferative Neoplasms (MPNs). Since the JAK2 locus is located on Chromosome 9, we hypothesized that Chromosome 9 copy number abnormalities may be a disease modifier in JAK2V617F-mutant MPN patients. In this study, we identified a subset of MPN patients with partial or complete Chromosome 9 trisomy (+9p patients), who differ...

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PMID: 39179669
DOI: 10.1038/s41375-024-02373-w
PMCID: PMC11436358

Genes

JAK2
CD34
CD274
NANOG

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