Endocrine Abstracts

Introduction: The description of a rare case of papillary thyroid cancer, neck paraganglioma, pituitary adenoma and Cowden-like syndrome.

Case report: A 43-year-old woman presented with enlargement of her right thyroid lobe and a palpable ipsilateral neck mass. The pathology examination after operation of the two lesions revealed the synchronous presentation of a papillary thyroid carcinoma and a neck paraganglioma. Patient’s medical history included a microprolactinoma, diagnosed one decade before and a constellation of characteristics that are components of Cowden syndrome, specifically an excised mammary gland fibroadenoma on grounds of fibrocystic disease and a large uterine leiomyofibroma under observation. Physical examination revealed macrocephaly and multiple skin papules.

Germline mutation analysis of PTEN, SDHB, SDHC and SDHD was performed with revelation of 3 polymorphic sites in introns 1, 4, 8 of PTEN gene and 1 polymorphic site in exon 1 of SDHB gene, but absence of known pathogenic mutations.

Conclusions: The co-existence of Cowden-like syndrome, neck paraganglioma and pituitary adenoma is described for the first time, which could represent a novel genetic syndrome with an as yet unidentified common genetic basis.