Endocrine Pathology

, Volume 28, Issue 1, pp 49–53 | Cite as

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

  • Eun Ji Oh
  • Sohee Lee
  • Ja Seong Bae
  • Yourha Kim
  • Sora Jeon
  • Chan Kwon JungEmail author


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.


Papillary thyroid carcinoma Cribriform-morular variant Telomerase reverse transcriptase Biomarker 



This research was supported by a grant (2013R1A2A2A01068570) of Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science, ICT and future planning, Republic of Korea. The authors gratefully acknowledge the use of the services and facilities of the Catholic Cancer Research Institute at the Catholic University of Korea.

Compliance with Ethical Standards

Conflicts of Interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  • Eun Ji Oh
    • 1
  • Sohee Lee
    • 2
  • Ja Seong Bae
    • 2
  • Yourha Kim
    • 3
  • Sora Jeon
    • 3
  • Chan Kwon Jung
    • 1
    Email author
  1. 1.Department of Hospital Pathology, Seoul St. Mary’s Hospital, College of MedicineThe Catholic University of KoreaSeoulRepublic of Korea
  2. 2.Department of Surgery, Seoul St. Mary’s Hosptial, College of MedicineThe Catholic University of KoreaSeoulRepublic of Korea
  3. 3.Department of Biomedicine & Health SciencesThe Catholic University of KoreaSeoulRepublic of Korea

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