Familial syndromic papillary thyroid carcinoma report of two cases

to describe two cases of familial papillary thyroid carcinoma.

patients were investigated by fine needle biopsy, MRI imaging and tumor biopsy, (first case) and histological examination of colonic and thyroid tumors (first case) and histological examination of thyroid tumor (second case).

case presentation: first case, 68 years old man had a colonic polyposis (attenuated form with only a few polyps) and a thyroid nodule. After hemicoleCtomy for a supposed colonic carcinoma with liver and lung metastases, histological examination revealed no malignant colonic disease. Two month later the diagnosis of invasive thyroid tumor with lymph node metastases was made, but only an open biopsy was done because tumor invasiveness demonstrated on MTI imaging. The biopsy identified a papillary thyroid carcinoma. Case 2: the son of the patient (30 years old) without known diseases was invited to be assessed for thyroid disease. Ultrasound examination discovered a large nodule with microcalcifications. Microscopic examination done after total thyroidectomy revealed a cribriform morular variant of papillary thyroid carcinoma, a variant that is known to be associated with FAP. Radioiodine ablation was made followed by suppressive thyroxine treatment. In the second case adenomatous polyposis was not found yet. In our knowledge these are the first cases of familial thyroid papillary carcinomas in our setting. Familial history allowed an earlier diagnosis and a good management of the disease in the second case.

according to the literature and our first experience, screening for thyroid cancer must be done in all patients with FAP and in those with a FAP proband in the family.