Our Experience with Analysis of the PTEN Gene in Patients Suspected of Having Cowden Syndrome
Authors:
P. Vasovčák 1; L. Foretová 2; A. Puchmajerová 1; M. Šenkeříková 3; J. Martínek 4; A. Křepelová 1
Authors‘ workplace:
Ústav biologie a lékařské genetiky, FN Motol a 2. LF UK, Praha
1; Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav, Brno
2; Oddělení lékařské genetiky, FN Hradec Králové
3; Oddělení hepatogastroenterologie, IKEM, Praha
4
Published in:
Klin Onkol 2010; 23(2): 111-114
Category:
Original Articles
Overview
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.
Key words:
Cowden syndrome – breast cancer – thyroid cancer – hamartomas – mucocutaneous lesions
Sources
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3. Eng C. PTEN: one gene, many syndromes. Hum Mutat 2003; 22(3): 183– 198.
4. Starink TM, van der Veen JP, Arwert F et al. The Cowden syndrome: a clinical and genetic study in 21 patients. Clin Genet 1986; 29(3): 222– 233.
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6. Vasovcak P, Krepelova A, Puchmajerova A et al. A novel mutation of PTEN gene in a patient with Cowden syndrome with excessive papillomatosis of the lips, discrete cutaneous lesions, and gastrointestinal polyposis. Eur J Gastroenterol Hepatol 2007; 19(6): 513– 517.
7. Marsh DJ, Dahia PL, Caron S et al. Germline PTEN mutations in Cowden syndrome‑like families. J Med Genet 1998; 35(11): 881– 885.
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9. Tsou HC, Teng DH, Ping XL et al. The role of MMAC1 mutations in early‑ onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1- negative cases. Am J Hum Genet 1997; 61(5): 1036– 1043.
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Labels
Paediatric clinical oncology Surgery Clinical oncologyArticle was published in
Clinical Oncology
2010 Issue 2
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