Familial Papillary Thyroid Carcinoma-4 Members from a Single Family

Familial non-medullary thyroid carcinoma (FNMTC) constitutes a minority of papillary thyroid carcinoma. An aggressive surgical strategy has been proposed in view of multifocality, invasiveness, nodal metastasis and higher recurrence rate. We present 4 affected family members, demonstrating aggressiveness and genetic anticipation. This study was conducted in a retrospective cohort of a family with 4 members affected with papillary thyroid carcinoma, diagnosed and treated between 2004 and 2023. The outcomes analysed were-age and stage at presentation, types of operation, histopathology, locoregional recurrence and follow-up. All the patients were female, with a mean age of 29.75 years (range 18-41 years). BRAF V600 E mutation was positive in 2/4 (50%). Besides thyroidectomy, central compartment lymph nodal dissection was done in 2/4 patients, while one patient also underwent selective lymph nodal dissection. Aggressive variant-diffuse sclerosing with hobnail features-was observed in 1/4 (25%). Lymphocytic thyroiditis was seen in 3/4 (75%). Residual thyroid required iodine ablation in 3/4 (75%). Nodal recurrence was seen in 2/4 (50%), requiring reoperation, with a mean time-to-recurrence of 7.5 years. We observed more aggressive behaviour, high risk variants, BRAF V 600E positivity, higher nodal recurrence and genetic anticipation in these 4 kindred.