Klin Onkol 2010; 23(2): 111-114.
Summary
Backgrounds: Cowden syndrome (CS) is a rare autosomal dominant disorder with an increased risk of breast, thyroid and uterine cancer development. The International Cowden Consortium has defined strict diagnostic criteria for individuals and families suspected of having CS. Patients and methods: We analyzed the genomic DNA of 16 patients by sequencing analysis and MLPA (multiplex ligation-dependent probe amplification) method. Results: We found germline mutations, c.825_840del, resp. c.438delT, in 2 patients. Both patients fulfilled strict diagnostic criteria. The other patients, except one, who did not fulfil the criteria, did not harbour any pathogenic mutation. Patients not fulfilling strict diagnostic criteria were included in the study according to major CS criteria but not pathogenic. Conclusion: Our results and information from relevant articles show that strict international criteria are well established and analysis of „CS-like“ patients has no significant prognostic meaning.
