TERT Promoter Mutation in an Aggressive Cribriform Morular Variant of Papillary Thyroid Carcinoma
- PDF / 1,244,879 Bytes
- 5 Pages / 595.276 x 790.866 pts Page_size
- 88 Downloads / 150 Views
TERT Promoter Mutation in an Aggressive Cribriform Morular Variant of Papillary Thyroid Carcinoma Eun Ji Oh 1 & Sohee Lee 2 & Ja Seong Bae 2 & Yourha Kim 3 & Sora Jeon 3 & Chan Kwon Jung 1
# Springer Science+Business Media New York 2016
Abstract 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 45year-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.
* Chan Kwon Jung [email protected] 1
Keywords Papillary thyroid carcinoma . Cribriform-morular variant . Telomerase reverse transcriptase . Biomarker
Introduction The cribriform-morular variant of papillary thyroid carcinoma (CMV-PTC) is a very unusual type of thyroid cancer. It is diagnosed by its unique histologic findings and characterized by frequent association with familial adenomatous polyposis (FAP) and striking female predominance [1–3]. Whereas, about 40 % of CMV-PTCs are associated with FAP and present usually as multifocal nodules, others (sporadic ones) are usually present as solitary nodules. [4]. The biologic behavior of this variant is indolent without distant metastasis [4, 3]. Interestingly, only one case of a CMV-PTC showing distant metastasis has been reported in the English-language literature [5]. Herein, we report an extremely rare case of sporadic CMV-PTC with multiple bone metastases and review its molecular genetic features. Furthermore, this is the first case of CMV-PTC in association with a telomerase reverse transcriptase (TERT) promoter mutation.
Materials and Methods Patient
Department of Hospital Pathology, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Republic of Korea
2
Department of Surgery, Seoul St. Mary’s Hosptial, College of Medicine, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Republic of Korea
3
Department of Biomedicine & Health Sciences, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul 06591, Republic
Data Loading...
