Fiche publication
Date publication
avril 2025
Journal
Journal of clinical medicine
Auteurs
Membres identifiés du Cancéropôle Est :
Dr LINDNER Véronique
,
Dr PENCREACH Erwan
,
Pr MALOUF Gabriel
,
Dr BENDER Laura
Tous les auteurs :
Barbe-Richaud JB, Fattori A, Lindner V, Schuster C, Malouf G, Pencreach E, Somme L
Lien Pubmed
Résumé
Urothelial carcinoma is three to four times more common in men than in women, with a 73-year old mean age at diagnosis which is older than the average age at diagnosis of all cancers. Urothelial carcinoma is rare in people under 40 years of age. Smoking, exposure to industrial chemicals, and family history influence the development of bladder cancer, but age remains one of the most important risk factors. It is well established that women are more likely to be diagnosed with an advanced disease, impacting the prognosis and a higher stage-for-stage mortality compared to men. A gender difference is also observed when considering molecular features; for example, there a higher male/female ratio in -mutated bladder cancer. amplifications, which are roughly depicted in 25-50% of urothelial carcinoma, have been correlated with a worse prognosis. Genomic alterations of clinical interest are mainly mutations and amplifications, as well as alterations; however, no mutation has been routinely reported despite the frequency of its amplifications. Recurrently, no targeted inhibitors have demonstrated a benefit compared to platinum-based chemotherapy. We report a rare case of a 35-year-old woman presenting bone, hepatic, and lymph node metastatic urothelial carcinoma, harboring a deletion of 24 nucleotides in exon 19 of the gene with a 5-month response to osimertinib, a third-generation EGFR tyrosine kinase inhibitor.
Mots clés
EGFR, deletion exon 19, osimertinibkey points, uncommon mutation, urothelial carcinoma
Référence
J Clin Med. 2025 04 30;14(9):
