TERT Promoter Mutation in an Aggressive Cribriform Morular Variant of Papillary Thyroid Carcinoma

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• 作者：Eun Ji Oh ; Sohee Lee ; Ja Seong Bae ; Yourha Kim ; Sora Jeon…
• 关键词：Papillary thyroid carcinoma ; Cribriform ; morular variant ; Telomerase reverse transcriptase ; Biomarker
• 刊名：Endocrine Pathology
• 出版年：2017
• 出版时间：March 2017
• 年：2017
• 卷：28
• 期：1
• 页码：49-53
• 全文大小：
• 刊物主题：Pathology; Endocrinology; Oncology;
• 出版者：Springer US
• ISSN：1559-0097
• 卷排序：28

文摘

The cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) is a rare thyroid neoplasm characterized by unique morphologic findings and association with familial adenomatous polyposis. The biologic behavior of this variant has been reported to behave similarly to classic PTC. We report a rare sporadic case of CMV-PTC occurring in a 45-year-old female with multiple lymph nodes and bone metastases, which were detected after total thyroidectomy and radioactive iodine remnant ablation. Molecular analyses of primary thyroid and metastatic tumor tissues revealed a telomerase reverse transcriptase (TERT) promoter mutation, but absence of BRAF, KRAS, NRAS, HRAS, and PIK3CA mutations. Over a 4-year follow-up period, structurally identifiable bone metastases were persistent, but serial post-operative serum thyroglobulin levels remained undetectable in the absence of thyroglobulin antibody. The literature was reviewed. This is the first case of aggressive CMV-PTC showing TERT promoter mutation. TERT promoter mutations may help in predicting aggressive clinical behavior in CMV-PTC. Postoperative serum thyroglobulin measurement may have no impact on clinical decision-making in this type of tumor.