Telomere occupancy by TRF2 is altered by KIT mutations and correlates with mastocytosis regression.

doi:10.1038/s41408-025-01372-z

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Article

Telomere occupancy by TRF2 is altered by KIT mutations and correlates with mastocytosis regression.

Blood cancer journal - 5 Nov 2025

Bruneau Julie, Georgin-Lavialle Sophie, Ladraa Sophia, Belaid Zakia, Plo Isabelle, Letard Sébastien, Soucie Erinn, Draskovic Irena, Goudin Nicolas, Bouillié Marie, Lepelletier Yves, Rossignol Julien, Polivka Laura, Frenzel Laurent, Lortholary Olivier, Fraitag Sylvie, Bodemer Christine, Revy Patrick, Arock Michel, Molina Thierry-Jo, Londono-Vallejo Arturo, Dubreuil Patrice, Maouche-Chretien Leila, Hermine Olivier

Abstract excerpt

Mastocytosis, a clonal disorder characterized by the accumulation of mast cells in various tissues, affects both adults and children. Adults frequently exhibit KIT activating mutations, usually in the phospho-transferase domain (PTD KIT mutations). Our previous findings revealed that children also harbor oncogenic KIT activating mutations, but more commonly within the extra-cellular domain (non-PTD KIT...

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PMID: 41193460
DOI: 10.1038/s41408-025-01372-z
PMCID: PMC12589641

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