Papillary Thyroid Carcinoma with Desmoid-Type Fibromatosis: Review of Published Cases

SIMPLE SUMMARY: Papillary thyroid cancer (PTC)-desmoid type fibromatosis (DTF) is one of the rarest variants of PTC. The diagnosis is histological, and detecting a mutation of CTNNB1 in the mesenchymal component is highly suggestive of PTC-DTF. The treatment is essentially surgical. We conducted a review of all cases of PTC-DTF found in the English literature and our aim is to describe patient’s characteristics, histology, immunohistochemistry and somatic mutations of every case. ABSTRACT: Desmoid-type fibromatosis (DTF) is a very rare variant of papillary thyroid carcinoma (PTC). It is essentially a dual tumor with a component of classical PTC with malignant epithelial proliferation (BRAF-mutated) and another component of mesenchymal proliferation (CTNNB1-mutated). We conducted a literature review on PTC-DTF. In total, 31 articles were identified, that together reported on 54 patients. The mean age was 47 years, with a 2.2:1 female predominance. No ultrasound features were found to be helpful in differentiating PTC-DTF from other PTC variants. Of the 43 cases that reported histological details, 60% had locally infiltrative disease (T3b or T4). Around 48% had cervical lymph node metastases, but none had distant metastases. While PTC-DTF may be locally more aggressive than classic PTC, its overall behavior is similar and can include extrathyroidal extension and lymph node metastases, which may contain a stromal component and show extranodal invasion. The mainstay of treatment for PTC-DTF is surgery, and the DTF component is not expected to be sensitive to radioactive iodine. External radiotherapy, non-steroidal anti-inflammatory drugs, tyrosine kinase inhibitors and chemotherapy have also been used in selected cases. Due to the rarity of these tumors and the lack of specific treatment guidelines, management should be discussed in a multidisciplinary team.