A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma.
Fiche publication
Date publication
janvier 2017
Journal
Hereditary cancer in clinical practice
Auteurs
Membres identifiés du Cancéropôle Est :
Dr CHAPUSOT Caroline, Dr DALAC Sophie, Pr LEPAGE Côme, Pr FAIVRE Laurence
Tous les auteurs :
Kientz C, Joly MO, Faivre L, Clemenson A, Dalac S, Lepage C, Chapusot C, Jacquot C, Schiappa R, Lebrun M
Lien Pubmed
Résumé
The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Hence, the real link between Lynch syndrome, or Muir-Torre syndrome, and these tumors remains difficult to assess.
Référence
Hered Cancer Clin Pract. 2017 ;15:6