PPM -Diagnosis and Management of Adult Patients with Cowden Syndrome-Description and References

Description and References

Pdf Summary

Cowden syndrome, also known as Cowden disease or PTEN hamartoma tumor syndrome, is a rare hereditary cancer syndrome caused by a mutation in the PTEN gene on chromosome 10q23. Individuals with Cowden syndrome have various clinical features, including trichilemmomas, macrocephaly, mucocutaneous papillomatous papules, palmoplantar keratoses, and an increased risk of developing malignancies such as breast, thyroid, endometrial, skin, renal, and colon carcinomas. The lifetime risks for specific cancers in individuals with Cowden syndrome are as follows: 35% for thyroid cancer, 35% for renal cell carcinoma, >5% for cutaneous melanoma, and an 85% lifetime risk of developing breast cancer in females (with an average age of diagnosis between 38-46 years) along with a 28% lifetime risk for endometrial cancer. Other benign conditions commonly observed in Cowden syndrome include benign multinodular goiter of the thyroid, uterine fibroids, benign breast disease, and gastrointestinal polyps. There is also a related condition called Cowden-like syndrome, which is characterized by similar clinical features but occurs in the absence of a PTEN mutation and is associated with mutations in other genes like KLLN, SDHB, SDHC, SDHD, PIK3CA, AKT1, and others. <br /><br />The diagnosis of Cowden syndrome is based on specific clinical criteria, and its management involves following NCCN guidelines for screening and surveillance of individuals with this condition. Genetic counseling and testing are recommended for individuals suspected of having Cowden syndrome. Regular surveillance for the associated malignancies is essential, including frequent clinical breast exams, mammograms, colonoscopies, and thyroid ultrasound. The management of Cowden syndrome involves a multidisciplinary approach, with the coordination of various healthcare professionals such as geneticists, dermatologists, endocrinologists, gynecologists, and oncologists. <br /><br />References: <br />1. Yehia L, Eng C. PTEN Hamartoma Tumor Syndrome. GeneReviews®. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1488/.<br />2. NCCN Clinical Practice Guidelines in Oncology – Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic. www.nccn.org, version 2.2022.<br />3. Tan, M. et al. Lifetime Risks in Individuals with Germline PTEN Mutations. Clin Cancer Res. 2012;18(2):400-407.<br />4. Yehia L, Eng C. PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation? Hum Mol Genet. 2020;29(R2): R150-R157.

Keywords

Cowden syndrome

PTEN gene

mutation

breast cancer

thyroid cancer

endometrial cancer

renal cell carcinoma

colon carcinoma

benign conditions

genetic counseling