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Updated: May 13, 2025

Spontaneous Murine Model of Anaplastic Thyroid Cancer
Published on: February 3, 2023
Papillary Thyroid Carcinoma With 5 Unique Point Mutations and Typical Behavior
Aditya Chauhan1, Siddhartha Sen2, Khalid Amin2
1Division of Diabetes, Endocrinology & Metabolism, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA.
Abstract:
The frequency and impact of multiple driver mutations have not been extensively explored in papillary thyroid carcinoma (PTC), in which driver mutations are most commonly solitary. We present a case of a 62-year-old female who was found to have a 2.6-cm classical, nonaggressive-appearing PTC. A next-generation sequencing panel assessed the tumor for mutations. Five unique single nucleotide sequence variants, none of which was seen in The Cancer Genome Atlas study on PTC, were found: BRAF D594N, NRAS Q61H, PIK3CA G1007R, PTEN R335*, and PTEN Y225*. We believe that 5 pathogenic variants are the highest reported number for a primary PTC resection specimen to date. The observed typical PTC behavior may be due to a weaker strength of the individual pathogenic variants to drive oncogenic processes. In this case, the high number of genetic alterations did not translate into aggressive histopathology or clinical course.
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