'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitors.

Fiche publication

Date publication

juillet 2025

Journal

Journal of medical genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr BARDOU Marc , Pr BINQUET Christine , Pr KURTZ Jean-Emmanuel , Pr FAIVRE Laurence , Pr VABRES Pierre

Tous les auteurs :
Bouhatous YM, Bredrup C, Maurer A, Mirakovska L, Foster A, Kosaki K, Jost C, Demoulin JB, Luu M, Vabres P, Kurtz JE, Schaefer E, Guimier A, Cormier-Daire V, Lim D, Thompson S, Olson L, Kwon HR, Aguirre-Rodriguez C, Hernandez-Dorronsoro U, Martinez-Soroa I, Iznardo H, Mascaró JM, Baselga E, Kalantari S, Mussa A, Gazzin A, Carli D, Svinvik I, Mutlu-Albayrak H, Bluefeather S, Zarate Y, Takenouchi T, Naicker T, Chateau A, Gokhul A, Dube-Pule A, Haniffa M, Ong Peitee W, Nordgren A, Carpentier M, Binquet C, Briffaut AS, Bal L, Pond D, Rustad CF, Bardou M, Faivre L

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/40707250

Résumé

5 years have passed since the formation of the multidisciplinary consortium 'Knowing & Treating Kosaki and Penttinen Syndromes', two ultra-rare degenerative multisystem syndromes caused by heterozygous activating variants in . Neurological, orthopaedic and vascular deterioration can occur. Case reports of patients treated with tyrosine kinase inhibitors (TKIs) suggest that these drugs may be a therapeutic option in the future. The bi-annual remote meetings provide an opportunity to share knowledge on these syndromes.