[Ovarian Carcinosarcoma Associated with Cowden Syndrome-A Case Report]

Area of Science:

• Oncology
• Genetics
• Pathology

Background:

• Cowden syndrome is an autosomal dominant disorder caused by PTEN gene mutations, increasing cancer risk.
• While associated with various cancers, ovarian cancer is rare in Cowden syndrome patients.
• Somatic PTEN mutations are found in some ovarian carcinomas.

Observation:

• A 55-year-old woman with Cowden syndrome presented with symptoms suggestive of ovarian cancer.
• Imaging revealed a pelvic tumor, later diagnosed as stage IIIC ovarian carcinosarcoma.
• The tumor was a mixed high-grade carcinoma and heterologous sarcoma, with p53 positivity.

Findings:

• This is the first reported case of ovarian carcinosarcoma in a patient with Cowden syndrome.
• The patient's tumor exhibited resistance to standard paclitaxel/carboplatin chemotherapy.
• The patient succumbed to the disease two months post-surgery.

Implications:

• This case underscores the importance of vigilant surveillance for rare malignancies in Cowden syndrome.
• Further research is needed to understand PTEN's role in ovarian carcinosarcoma development.
• Novel therapeutic strategies may be required for Cowden syndrome patients with aggressive ovarian cancers.