Document Type
Report
Publication Date
4-24-2026
Abstract
Multifocal papillary thyroid cancer (PTC) can arise from independent primaries with discordant drivers in parallel clonal evolution rather than a single-clone pattern. We present a 31-year-old female with multifocal PTC harboring 3 distinct oncogenic alterations: a germline RET p.V804M mutation, low-frequency EML4-ALK fusion, and BRAF V600E mutation. The RET and ALK alterations were identified in a midpole nodule, whereas BRAF positivity was seen in a separate lower pole tumor. Ultrasound revealed multiple right-lobe thyroid nodules; the dominant 2.1-cm lesion was hypoechoic with calcifications. Fine needle aspiration revealed Bethesda III cytology, prompting thyroid lobectomy and an ipsilateral central neck dissection was performed. Histopathology confirmed multifocal PTC and a background of chronic lymphocytic thyroiditis with 23 lymph nodes negative for metastasis. This case presents heterogeneity of oncogenic drivers in PTC and the potential value of comprehensive molecular profiling in risk stratification and management.
Recommended Citation
Beiriger, Jacob; Estephan, Leonard; Zuberi, Lubna; Gargano, Stacey; and Cottrill, Elizabeth, "Multifocal Papillary Thyroid Carcinoma With RET p.V804M, EML4-ALK Fusion, and BRAF V600E Positivity" (2026). Department of Otolaryngology - Head and Neck Surgery Faculty Papers. Paper 113.
https://jdc.jefferson.edu/otofp/113
Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.
PubMed ID
42039113
Language
English
Comments
This article is the author’s final published version in JCEM Case Reports, Volume 4, Issue 5, 2026.
The published version is available at https://doi.org/10.1210/jcemcr/luag072. Copyright © The Author(s) 2026.