Familial Papillary Thyroid Carcinoma-4 Members from a Single Family
Swarna Azaria1, Sai Vyshnavi1, Supriya Sen1
1Department of Endocrine Surgery, Christian Medical College, Vellore, Tamil Nadu India.
Indian Journal of Surgical Oncology
|November 24, 2025
Summary
Familial non-medullary thyroid carcinoma (FNMTC) shows aggressive traits in this family study. High rates of recurrence and genetic anticipation were observed, suggesting a need for tailored treatment strategies.
Area of Science:
- Oncology
- Genetics
- Endocrinology
Background:
- Familial non-medullary thyroid carcinoma (FNMTC) is a rare subset of papillary thyroid carcinoma.
- Aggressive surgical approaches are considered due to FNMTC's potential for multifocality, invasiveness, nodal metastasis, and recurrence.
Purpose of the Study:
- To investigate the clinical presentation, treatment outcomes, and genetic characteristics of papillary thyroid carcinoma in a family with multiple affected members.
- To evaluate the aggressiveness, recurrence patterns, and potential for genetic anticipation in familial non-medullary thyroid carcinoma.
Main Methods:
- Retrospective cohort study of 4 family members diagnosed with papillary thyroid carcinoma between 2004 and 2023.
- Analysis of patient data including age, stage, surgical procedures, histopathology, BRAF V600E mutation status, and follow-up outcomes.
- Detailed assessment of locoregional recurrence and time to recurrence.
Main Results:
- All 4 affected individuals were female, with a mean age of 29.75 years.
- BRAF V600E mutation was present in 50% of patients. Aggressive variants and lymphocytic thyroiditis were noted.
- Nodal recurrence occurred in 50% of patients, requiring reoperation with a mean time to recurrence of 7.5 years.
Conclusions:
- Familial non-medullary thyroid carcinoma in this cohort exhibited aggressive behavior, including high-risk variants, BRAF V600E positivity, and significant nodal recurrence.
- The findings suggest potential genetic anticipation and underscore the need for vigilant monitoring and potentially aggressive management strategies in affected families.
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