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Original Articles
- Genetic Alterations and Their Clinical Implications in High-Recurrence Risk Papillary Thyroid Cancer
- Min-Young Lee, Bo Mi Ku, Hae Su Kim, Ji Yun Lee, Sung Hee Lim, Jong-Mu Sun, Se-Hoon Lee, Keunchil Park, Young Lyun Oh, Mineui Hong, Han-Sin Jeong, Young-Ik Son, Chung-Hwan Baek, Myung-Ju Ahn
- Cancer Res Treat. 2017;49(4):906-914. Published online December 26, 2016
- DOI: https://doi.org/10.4143/crt.2016.424
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Abstract
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ePub - Purpose
Papillary thyroid carcinomas (PTCs) frequently involve genetic alterations. The objective of this study was to investigate genetic alterations and further explore the relationships between these genetic alterations and clinicopathological characteristics in a high-recurrence risk (node positive, N1) PTC group.
Materials and Methods
Tumor tissue blocks were obtained from 240 surgically resected patients with histologically confirmed stage III/IV (pT3/4 or N1) PTCs. We screened gene fusions using NanoString’s nCountertechnology and mutational analysiswas performed by directDNA sequencing.Data describing the clinicopathological characteristics and clinical courses were retrospectively collected.
Results
Of the 240 PTC patients, 207 (86.3%) had at least one genetic alteration, including BRAF mutation in 190 patients (79.2%), PIK3CA mutation in 25 patients (10.4%), NTRK1/3 fusion in six patients (2.5%), and RET fusion in 24 patients (10.0%). Concomitant presence of more than two genetic alterations was seen in 36 patients (15%). PTCs harboring BRAF mutation were associated with RET wild-type expression (p=0.001). RET fusion genes have been found to occur with significantly higher frequency in N1b stage patients (p=0.003) or groups of patients aged 45 years or older (p=0.031); however, no significant correlation was found between other genetic alterations. There was no trend toward favorable recurrence-free survival or overall survival among patients lacking genetic alterations.
Conclusion
In the selected high-recurrence risk PTC group, most patients had more than one genetic alteration. However, these known alterations could not entirely account for clinicopathological features of high-recurrence risk PTC. -
Citations
Citations to this article as recorded by
- Protective TGFβ2/SMAD3 axis identified by TWAS in papillary thyroid cancer
Qinnan Zhang, Jiayu Tang, Ju Yang, Yujin Li, Xueqing Li, Kangan Wang, Panpan Zhang, Kai Wang, Bingbing Zha
Endocrine-Related Cancer.2026;[Epub] CrossRef - Role of contrast-enhanced ultrasound with time-intensity curve analysis about thyroid nodule and parenchyma for differentiating BRAF V600E mutation status
Zhipeng Hu, Rong Xue, Zhixi Liu, Liang Liu, Zheli Gong
PeerJ.2025; 13: e19006. CrossRef - miR-7-5p and Importin-7 Regulate the p53 Dynamics and Stability in Malignant and Benign Thyroid Cells
Abeer Al-Abdallah, Iman Jahanbani, Bashayer Al-Shammari
International Journal of Molecular Sciences.2025; 26(12): 5813. CrossRef - BRAF V600E mutation co-existing with oncogenic mutations is associated with aggressive clinicopathologic features and poor prognosis in papillary thyroid carcinoma
Nobuyuki Bandoh, Takashi Goto, Yasutaka Kato, Akinobu Kubota, Shota Sakaue, Ryuhei Takeda, Shuto Hayashi, Misaki Hayashi, Shogo Baba, Tomomi Yamaguchi-Isochi, Hiroshi Nishihara, Hajime Kamada
Asian Journal of Surgery.2024; 47(1): 413. CrossRef - FHL1: A novel diagnostic marker for papillary thyroid carcinoma
Yeting Zeng, Dehua Zeng, Xingfeng Qi, Hanxi Wang, Xuzhou Wang, Xiaodong Dai, Lijuan Qu
Pathology International.2024; 74(9): 520. CrossRef - Rearranged During Transfection Rearrangement Detection by Fluorescence In Situ Hybridization Compared With Other Techniques in NSCLC
Anne Mc Leer, Julie Mondet, Nelly Magnat, Mailys Mersch, Diane Giovannini, Camille Emprou, Anne-Claire Toffart, Nathalie Sturm, Sylvie Lantuéjoul, David Benito
JTO Clinical and Research Reports.2024; 5(12): 100714. CrossRef - Essential news for clinical practice—thyroid cancer
Barbara Kiesewetter, Ladislaia Wolff, Markus Raderer
memo - Magazine of European Medical Oncology.2023; 16(1): 47. CrossRef - A new paradigm for epidermal growth factor receptor expression exists in PTC and NIFTP regulated by microRNAs
Abeer Al-Abdallah, Iman Jahanbani, Rola H. Ali, Nabeel Al-Brahim, Jeena Prasanth, Bashayer Al-Shammary, Maie Al-Bader
Frontiers in Oncology.2023;[Epub] CrossRef - NanoString in the screening of genetic abnormalities associated with thyroid cancer
Elisabetta Macerola, Anello Marcello Poma, Fulvio Basolo
Seminars in Cancer Biology.2022; 79: 132. CrossRef - The budget impact of adding pralsetinib to a US health plan formulary for treatment of non-small cell lung cancer and thyroid cancer with RET alterations
Steve Duff, Francesca Bargiacchi, Chelsea Norregaard, Melanie Brener, Erin Sullivan
Journal of Managed Care & Specialty Pharmacy.2022; 28(2): 218. CrossRef - Thyroid cancer incidence disparities among ethnic Asian American populations, 1990–2014
Alice W. Lee, Roy A. Mendoza, Shehla Aman, Robert Hsu, Lihua Liu
Annals of Epidemiology.2022; 66: 28. CrossRef - Analytical Accuracy of RET Fusion Detection by Break-Apart Fluorescence In Situ Hybridization
Jessica A. Baker, Anthony N. Sireci, Narasimha Marella, Holly Kay Cannon, Tyler J. Marquart, Timothy R. Holzer, Leslie O'Neill Reising, Joel D. Cook, Sameera R. Wijayawardana, Juraj Bodo, Eric D. Hsi, Andrew E. Schade, Gerard J. Oakley
Archives of Pathology & Laboratory Medicine.2022; 146(3): 351. CrossRef - Intratumoral Genetic Heterogeneity in Papillary Thyroid Cancer: Occurrence and Clinical Significance
Laura Fugazzola, Marina Muzza, Gabriele Pogliaghi, Mario Vitale
Cancers.2020; 12(2): 383. CrossRef - The stress-activated protein kinase pathway and the expression of stanniocalcin-1 are regulated by miR-146b-5p in papillary thyroid carcinogenesis
Abeer Al-Abdallah, Iman Jahanbani, Heba Mehdawi, Rola H Ali, Nabeel Al-Brahim, Olusegun Mojiminiyi
Cancer Biology & Therapy.2020; 21(5): 412. CrossRef -
Risk Stratification Using a Novel Genetic Classifier Including
PLEKHS1
Promoter Mutations for Differentiated Thyroid Cancer with Distant Metastasis
Chan Kwon Jung, Seung-Hyun Jung, Sora Jeon, Young Mun Jeong, Yourha Kim, Sohee Lee, Ja-Seong Bae, Yeun-Jun Chung
Thyroid®.2020; 30(11): 1589. CrossRef - Prediction of cervical lymph node metastasis with contrast-enhanced ultrasound and association between presence of BRAFV600E and extrathyroidal extension in papillary thyroid carcinoma
Jia Zhan, Long-hui Zhang, Qing Yu, Chao-lun Li, Yue Chen, Wen-Ping Wang, Hong Ding
Therapeutic Advances in Medical Oncology.2020;[Epub] CrossRef - Clinical significance of eukaryotic translation initiation factor 5A2 in papillary thyroid cancer
Hongmei Zhang, Kejun Zhang, Liang Ning, Dong Chen, Fengyun Hao, Peng Li
Bioengineered.2020; 11(1): 1325. CrossRef - High Preponderance of BRAF V600E Mutation in Papillary Thyroid Carcinoma Among Filipinos: A Clinicopathologic Study
Gerard Anthony M. Espiritu, Joemari T. Malana, Arlie Jean Grace V. Dumasis, Daphne C. Ang
Journal of Global Oncology.2019; (5): 1. CrossRef - PIK3CA Gene Mutations in Solid Malignancies: Association with Clinicopathological Parameters and Prognosis
Ali Alqahtani, Hazem S. K. Ayesh, Hafez Halawani
Cancers.2019; 12(1): 93. CrossRef - Targeted next‑generation sequencing of cancer‑related genes in thyroid carcinoma: A single institution's experience
Nobuyuki Bandoh, Toshiaki Akahane, Takashi Goto, Michihisa Kono, Haruyuki Ichikawa, Takahiro Sawada, Tomomi Yamaguchi, Hiroshi Nakano, Yumiko Kawase, Yasutaka Kato, Hajime Kamada, Yasuaki Harabuchi, Kazuo Shimizu, Hiroshi Nishihara
Oncology Letters.2018;[Epub] CrossRef - Niclosamide induces apoptosis through mitochondrial intrinsic pathway and inhibits migration and invasion in human thyroid cancer in vitro
Kai Yu, Tingting Wang, Yujue Li, Chun Wang, Xia Wang, Mei Zhang, Yongmei Xie, Shuangqing Li, Zhenmei An, Tinghong Ye
Biomedicine & Pharmacotherapy.2017; 92: 403. CrossRef
- Protective TGFβ2/SMAD3 axis identified by TWAS in papillary thyroid cancer
- 14,241 View
- 375 Download
- 22 Web of Science
- 21 Crossref
- Potential Role of Adjuvant Radiation Therapy in Cervical Thymic Neoplasm Involving Thyroid Gland or Neck
- Jae Myoung Noh, Sang Yun Ha, Yong Chan Ahn, Dongryul Oh, Seung Won Seol, Young Lyun Oh, Joungho Han
- Cancer Res Treat. 2015;47(3):436-440. Published online November 17, 2014
- DOI: https://doi.org/10.4143/crt.2013.184
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Abstract
PDFPubReaderePub
- Purpose
The purpose of this study is to assess the clinicopathologic features, treatment outcomes, and role of adjuvant radiation therapy (RT) in cervical thymic neoplasm involving the thyroid gland or neck. Materials and Methods The medical and pathologic records of eight patients with cervical thymic neoplasm were reviewed retrospectively. All patients underwent surgical resection, including thyroidectomy or mass excision. Adjuvant RT was added in five patients with adverse clinicopathologic features. The radiation doses ranged from 54 Gy/27 fractions to 66 Gy/30 fractions delivered to the primary tumor bed and pathologically involved regional lymphatics using a 3-dimensional conformal technique. Results Eight cases of cervical thymic neoplasm included three patients with carcinoma showing thymus-like differentiation (CASTLE) and five with ectopic cervical thymoma. The histologic subtypes of ectopic cervical thymoma patients were World Health Organization (WHO) type B3 thymoma in one, WHO type B1 thymoma in two, WHO type AB thymoma in one, and metaplastic thymoma in one, respectively. The median age was 57 years (range, 40 to 76 years). Five patients received adjuvant RT: three with CASTLE; one with WHO type B3; and one with WHO type AB with local invasiveness. After a median follow-up period of 49 months (range, 11 to 203 months), no recurrence had been observed, regardless of adjuvant RT. Conclusion Adjuvant RT after surgical resection might be worthwhile in patients with CASTLE and ectopic cervical thymoma with WHO type B2-C and/or extraparenchymal extension, as similarly indicated for primary thymic epithelial tumors. A longer follow-up period may be needed in order to validate this strategy. -
Citations
Citations to this article as recorded by- A case report: Complete thoracoscopic resection of ectopic thymoma extending to cervical region
Takeshi Ohyu, Tohru Mawatari
The Journal of the Japanese Association for Chest Surgery.2026; 40(1): 59. CrossRef - Coexistence of intrathyroid thymic carcinoma and papillary thyroid carcinoma: a case report and literature review
Maryam Vajihinejad, Ali Ataei, Mohammad Pashmchi, Ali Aledavoud, Vahid Zand, Mohammad Ali Broomand, Mohammad Mohammadi, Niloofar Zare Reshkuiyeh
Frontiers in Oncology.2024;[Epub] CrossRef - Case report: Thymoid differentiated carcinoma of thyroid: Two cases
Yanjie Zhao, Jiafeng Liu
Frontiers in Surgery.2023;[Epub] CrossRef - Ectopic Cervical Thymoma: An Uncommon Entity
Nikitha Kairanna, Geetha Vasudevan, Veena Karanth, Krishna Sharan
Indian Journal of Otolaryngology and Head & Neck Surgery.2022; 74(S3): 5884. CrossRef - Genomic variation associated with carcinoma showing thymus‐like elements (CASTLE) in thyroid gland
Lin Jiang, Wei‐Hui Zheng, Chao Chen
Laryngoscope Investigative Otolaryngology.2022; 7(3): 894. CrossRef - Thyroid Carcinoma Showing Thymus-like Differentiation (CASTLE): A Case Report
Mihaela Stanciu, Ruxandra Paula Ristea, Mihaela Popescu, Corina Maria Vasile, Florina Ligia Popa
Life.2022; 12(9): 1314. CrossRef - Failure pattern and suggestions for target volume delineation of carcinoma showing thymus-like differentiation treated with intensity-modulated radiotherapy
Fang-Fang Kong, Guang-Sen Pan, Rui-Ping Zhai, Cheng-Run Du, Xia-Yun He, Chun-Ying Shen, Xue-Guan Lu, Tuan-Qi Sun, Yu Wang, Qing-Hai Ji, Chao-Su Hu, Hong-Mei Ying
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A. A. Ilyin, V. V. Polkin, P. A. Isaev, F. E. Sevrukov, N. Yu. Dvinskych, M. I. Ryzhenkova, S. A. Ivanov, A. D. Kaprin
Head and neck tumors (HNT).2021; 11(2): 64. CrossRef - Recurrence of carcinoma showing thymus-like differentiation (CASTLE) involving the thyroid gland
N. V. Dang, L. X. Son, N. T. T. Hong, N. T. T. Nhung, N. T. Tung, L. V. Quang
Thyroid Research.2021;[Epub] CrossRef - An extrathyroid CASTLE tumor in the left neck
Lin Jiang, Wei-hui Zheng, Yun Xi, Chao Chen
Oral Oncology.2020; 109: 104656. CrossRef - The ‘CASTLE’ tumour: An extremely rare presentation of a thyroid malignancy. A case report
Diana Mellisa Dualim, Loo Guo Hou, Shahrun Niza Abdullah Suhaimi, Nani Harlina Md Latar, Rohaizak Muhammad, Nordashima Abd Shukor
Annals of Medicine and Surgery.2019;[Epub] CrossRef - Thyroid Carcinoma Showing Thymus-Like Differentiation (CASTLE) with Tracheal Invasion: A Case Report
Adrian Chi Heng Fung, Julian Shun Tsang, Brian Hung Hin Lang
American Journal of Case Reports.2019; 20: 1845. CrossRef - Ektopien des Thymus und ektope Thymustumoren
A. Marx, T. Rüdiger, E. Rößner, A. Tzankov, V. T. de Montpréville, R. R. Rieker, P. Ströbel, C.‑A. Weis
Der Pathologe.2018; 39(5): 390. CrossRef - CASTLE Thyroid Tumor: A Case Report and Literature Review
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Frontiers in Oncology.2017;[Epub] CrossRef - Thyroid Carcinoma Showing Thymic‐Like Differentiation Causing Fracture of the Trachea
Aikaterini Marini, Meletios Kanakis, Konstantinos Valakis, Nikolaos Laschos, Maria Chorti, Achilleas Lioulias, Christian Koch
Case Reports in Medicine.2016;[Epub] CrossRef
- A case report: Complete thoracoscopic resection of ectopic thymoma extending to cervical region
- 14,496 View
- 93 Download
- 18 Web of Science
- 16 Crossref
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