LBSAT291 Familial Papillary Thyroid Carcinoma

INTRODUCTION: Familial papillary thyroid carcinoma is a rare entity; however, it must be considered if a strong family history of non medullary thyroid carcinoma is noted. As this cancer presents earlier and with more aggressive features with each subsequent generation, a targeted diagnostic and management approach should be utilized. CASE PRESENTATION: A 26 year old female presented to the PCP after sustaining head trauma while kickboxing. During the visit, she requested for thyroid evaluation due to a strong family history of thyroid cancer in her mother, maternal aunt, maternal uncle and maternal grandfather. She reported that her mother was diagnosed with thyroid cancer at the age of 40 years; however, she was unaware of further details. She denied any personal history of cancer or exposure to radiation. An extensive review of systems was negative. TSH was within the normal range 2.65 uIU/ml (0.40 - 4. 0). Thyroid ultrasound showed a 1.1 cm nodule in the right thyroid lobe with microcalcifications suspicious for malignancy. Fine needle aspiration cytology of the nodule confirmed papillary thyroid carcinoma. A preoperative CT neck and soft tissue was negative for cervical lymphadenopathy per size criteria. She underwent a total thyroidectomy with neck dissection. Surgical pathology report showed 1.8 cm right thyroid lobe papillary carcinoma and 13 lymph nodes positive for metastatic carcinoma, the largest measuring 0.4 cm. Post-operatively, she underwent radio-active iodide therapy and was started on Levothyroxine supplementation. She was closely monitored with serial thyroid function tests, thyroglobulin levels and thyroid ultrasound examinations. Tempus XT positive for BRAF and FOXP1. Approximately one year after the surgery, serum thyroglobulin levels started to plateau. A surveillance thyroid ultrasound was concerning for left lobe thyroid tissue remnant/cancer. Thus, a radio-active iodine total body scan was planned to locate the remnant thyroid tissue followed by biopsy and excision in case of recurrent cancer. DISCUSSION: Papillary thyroid cancer runs in families and becomes more aggressive with each subsequent generation. The American Thyroid Association guidelines detail that screening with thyroid ultrasound should be considered in families with three or more family members affected by familial non medullary thyroid cancer. In addition, certain mutations such as the BRAF mutation are associated with aggressive clinicopathological characteristics and high tumor recurrence. There is limited data available on the FOXP1; however, it may also be linked to an aggressive course. Therefore, screening ultrasound should be offered in such patients and FNAC samples should be sent for genetic analysis to help formulate an appropriate treatment plan. These patients benefit from receiving early screening, more intensive management and frequent follow up. Presentation: Saturday, June 11, 2022 1:00 p.m. - 3:00 p.m.