TERT Promoter Mutation in an Aggressive Cribriform Morular Variant of Papillary Thyroid Carcinoma.
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.
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.
Eun Ji
EJ
Oh
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.
Sohee
S
Lee
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.
Ja Seong
JS
Bae
Department of Biomedicine & Health Sciences, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul, 06591, Republic of Korea.
Yourha
Y
Kim
Department of Biomedicine & Health Sciences, The Catholic University of Korea, 222 Banpo-daero, Seocho-gu, Seoul, 06591, Republic of Korea.
Sora
S
Jeon
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. ckjung@catholic.ac.kr.
Chan Kwon
CK
Jung
D001859:Bone Neoplasms / Q000556:secondary; D002277:Carcinoma / Q000235:genetics* / Q000473:pathology*; D002291:Carcinoma, Papillary; D005260:Female; D006801:Humans; D008207:Lymphatic Metastasis / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics*; D019098:Telomerase / Q000235:genetics*; D000077273:Thyroid Cancer, Papillary; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology*
C509186:TERT protein, human; D019098:Telomerase
Biomarker; Cribriform-morular variant; Papillary thyroid carcinoma; Telomerase reverse transcriptase
World J Surg. 2006 May;30(5):775-9
16680592
Int J Surg Pathol. 2012 Dec;20(6):629-32
22494995
Histopathology. 1994 Dec;25(6):549-61
7698732
J Biol Chem. 2007 Apr 13;282(15):11221-9
17287208
J Clin Endocrinol Metab. 2008 Aug;93(8):3106-16
18492751
J Korean Med Sci. 2014 Aug;29(8):1054-60
25120313
J Pathol. 2003 Jan;199(1):58-67
12474227
Arch Pathol Lab Med. 2009 May;133(5):803-5
19415957
Jpn J Cancer Res. 2000 Nov;91(11):1100-2
11092973
Am J Clin Pathol. 2009 Jan;131(1):134-42
19095577
Nature. 2009 Jul 2;460(7251):66-72
19571879
Thyroid. 2009 Aug;19(8):905-13
19534622
Korean J Pathol. 2014 Jun;48(3):201-8
25013418
J Clin Endocrinol Metab. 2014 May;99(5):E754-65
24476079
Cancer Cell. 2005 Jun;7(6):561-73
15950905
Hum Pathol. 2015 Aug;46(8):1180-8
26054797
Diagn Pathol. 2016 Feb 09;11:21
26857243
J Clin Oncol. 2014 Sep 1;32(25):2718-26
25024077
Biochemistry (Mosc). 2012 Oct;77(10):1120-8
23157292
Neoplasia. 2015 Jul;17(7):598-611
26297437
Endocrinol Metab (Seoul). 2015 Sep;30(3):252-62
26435130
Trends Mol Med. 2013 Feb;19(2):125-33
23253475
Int J Surg Pathol. 2013 Aug;21(4):379-89
23349472
World J Surg. 2004 Sep;28(9):886-9
15593462
Thyroid. 2014 Jul;24(7):1184-9
24702198
Pathol Res Pract. 2015 Oct;211(10):712-6
26293799
Thyroid. 2013 Nov;23(11):1416-22
23590130
Thyroid. 2005 Jun;15(6):551-61
16029121