ESPE Abstracts

Cribiform Papillary Thyroid Carcinoma has low prevalence. Our objective is to present a case and to emphasize future implications. We present a female 14.9 years old patient with PWS (del 15 q11-13 by methylation test) with a history of asthma, hepatic steatosis, increased Waist-to-Height ratio, HbA1c 5.86 % and C-Peptide 3.64 ng/mL. She had primary hypotiroidism since 7 years old treated with 25 mg/ day of levothyroxine and impaired fasting glucose since 10 years old with a BMI = 24.2 (+ 2.4 SDS). She was treated with metformin 500 mg / day since 11 years. At 11.7 years she presented an acute asthma episode requiring systemic steroid therapy followed by a diabetic ketoacidosis with glycemia = 16.7 mM/l and HbA1c 8 %. Since then she was treated with glargine and aspartic insulin with favorable metabolic response. At 13.6 years old thyroid ultrasound showed the right lobe with an increased size, with two heterogeneous nodules, one of 14 mm and the other of 15 mm. They had a hypoechoic halo and and peripheral vascularization. Three lymph nodes were also detected, with a normal left lobe. Fine needle aspiration puncture showed a positive neoplastic citology Bethesda 5. Total thyroidectomy was performed, showing a Cribiform Morular Papillary Carcinoma, with multifocal intrathyroid extension and a vascular embolus in the thyroid capsule. Inmunohistochemistry: TTF1, PAX8, AE1 / AE3, CK7, S100 positive, Calcitonin, CK20, CEA negative, Betha-catenin intense positive in the tumor. Given the patients history, we decided to study Familial Adenomatous Polyposis, an autosomic dominant syndrome, with a variable degree of penetrance which characterizes by the early development of hundreds of polyps through the colon and rectum. 70 to 90 % of cases are due to a mutation in the APC tumor suppressor gene. It also has extra intestinal manifestations including Thyroid carcinoma in 2 % of cases, mostly of Cribiform variant. Our patient´s grandmother died because of a colon carcinoma. We performed a genetic study of the patient and found an uncertain meaning variant in MUTYH gene (c.658A>G/p.lle220val), that plays a significant role in ADN reparation and might be associated with familial poliposis. According to our knowledge this is the first case of Cribiform Papillary Thyroid Carcinoma associated with PWS. It remains to be ruled out other types of carcinoma development in the future.