A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma.

Date publication

janvier 2017

Journal

Hereditary cancer in clinical practice

Auteurs

Membres identifiés du Cancéropôle Est :
Dr CHAPUSOT Caroline , 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

https://www.ncbi.nlm.nih.gov/pubmed/28507641

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