Chauhan Aditya, Sen Siddhartha, Amin Khalid, Burmeister Lynn A
Division of Diabetes, Endocrinology & Metabolism, Department of Medicine, University of Minnesota, Minneapolis, MN 55455, USA.
Department of Pathology, University of Minnesota, Minneapolis, MN 55455, USA.
JCEM Case Rep. 2025 Apr 11;3(5):luaf062. doi: 10.1210/jcemcr/luaf062. eCollection 2025 May.
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: , and . 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.
在乳头状甲状腺癌(PTC)中,多个驱动基因突变的频率和影响尚未得到广泛研究,在这种癌症中驱动基因突变最常见为单个存在。我们报告了一例62岁女性病例,该患者被发现患有一个2.6厘米的典型、外观无侵袭性的PTC。通过一个二代测序平台评估肿瘤的突变情况。发现了5个独特的单核苷酸序列变异,这些变异在癌症基因组图谱关于PTC的研究中均未出现: ,以及 。我们认为,5个致病变异是迄今为止原发性PTC切除标本中报告的最高数量。观察到的典型PTC行为可能是由于各个致病变异驱动致癌过程的强度较弱。在这个病例中,大量的基因改变并未转化为侵袭性的组织病理学或临床病程。