AccScience Publishing / GPD / Online First / DOI: 10.36922/gpd.0371
Submit to GPD
Cite this article
74
Download
1990
Views
Journal Browser
Volume | Year
Issue
Search
Forthcoming Issue
Current Issue
View All
News and Announcements
View All
CASE REPORT

Clinical debate on papillary thyroid microcarcinoma-could genetic testing change the decision of papillarythyroid microcarcinoma (mPTC) treatment: A case report

Haitao Peng1,2† ,  Chang cai1† ,  Zifeng Luo3 ,  Chong Wang1 ,  Yuanwei Luo1 ,  Song Wang1*
Show Less
1 Department of Thyroid and Breast Surgery, Key Laboratory of Biological Targeting Diagnosis Therapy and Rehabilitation of Guangdong Higher Education Institutes, The Fifth Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong, China
2 Department of Thyroid and Breast Surgery, Shantou Third Peoples Hospital, Shantou, Guangdong, China
3 School of International Studies, Hunan Institute of Technology, Hengyang, Hunan, China
GPD 2023, 2(3), 0371 https://doi.org/10.36922/gpd.0371
Submitted: 28 March 2023 | Accepted: 9 August 2023 | Published: 30 August 2023
© 2023 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
Download PDF
Cite
XML
Abstract

The objective of this case report is to explore whether genetic testing is appropriate to guide the treatment of papillary thyroid microcarcinoma (PTMC). In this case report, we describe a 27-year-old female who had no significant medical history and no tumor detected in the thyroid gland by ultrasound or computed tomography (CT), but had multiple enlarged lymph nodes at the right cervical lymph node levels II, III, IV, and V. The intraoperative frozen section pathology results showed that seven out of 23 right lymph nodes were metastatic from thyroid papillary carcinoma, but no primary lesion was found in the thyroid gland. After multiple post-operative sampling and micro section, only a 1 mm papillary carcinoma in the left thyroid gland was identified. The genetic testing result showed that the patient was positive for CCDC6-exon 1-RET-exon 12 fusion. The final diagnosis of the patient was left thyroid micro-papillary carcinoma (1 mm) with the right lateral cervical lymph node metastasis. She received iodine-131 treatment with nuclide and lifelong levothyroxine therapy in the 3rd month after surgery. Continuous follow-up showed no elevation of thyroglobulin, no recurrence signs on positron emission tomography-CT re-examination, and good self-reported health status. In conclusion, the identification of CCDC6-RET fusion by genetic testing in the PTMC case aided diagnosis and treatment.

Keywords
Papillary thyroid microcarcinoma
Thyroid cancer
Active surveillance
CCDC6-RET fusion
Genetic testing
Funding
Clinical key specialty construction project funding of Guangdong Province
Key Laboratory of Guangdong Higher Education Institutes
National College Student Innovation and Entrepreneurship Training Project
Guangzhou Medical University Student Innovation Ability Enhancement Program Project
Conflict of interest
All authors have completed the ICMJE uniform disclosure form. The authors have no conflicts of interest to declare.
References
  1. Bai Y, Kakudo K, Jung CK, 2020, Updates in the pathologic classification of thyroid neoplasms: A review of the world health organization classification. Endocrinol Metab (Seoul), 35(4): 696–715. https://doi.org/10.3803/enm.2020.807

 

  1. Saijo H, Kitamura Y, Takenaka H, et al., 2017, Occult thyroid follicular carcinoma diagnosed as metastasis to the chest wall. Intern Med, 56(15): 2033–2037. https://doi.org/10.2169/internalmedicine.56.8340

 

  1. Zheng W, Tan J, Zhang G, 2015, Extensive bone metastases as the initial symptom of papillary thyroid microcarcinoma: A case report. Exp Ther Med, 9(6): 2104–2108. https://doi.org/10.3892/etm.2015.2423

 

  1. Schwaiger K, Koeninger F, Wimbauer J, et al., 2019, Occult papillary thyroid cancer presenting as cystic metastasis of the lateral neck: A case report. Medicine (Baltimore), 98(30): e16659. https://doi.org/10.1097/MD.0000000000016659

 

  1. Pollack R, Mazeh H, 2021, Active surveillance of thyroid microcarcinoma-can this approach be safely implemented worldwide? J Surg Res, 258: 145–152. https://doi.org/10.1016/j.jss.2020.08.061

 

  1. Vaccarella S, Franceschi S, Bray F, et al., 2016, Worldwide thyroid-cancer epidemic? The Increasing impact of overdiagnosis. N Engl J Med, 375(7): 614–617. https://doi.org/10.1056/NEJMp1604412

 

  1. Haugen BR, Alexander EK, Bible KC, et al., 2016, 2015 American thyroid association management guidelines for adult patients with thyroid nodules and differentiated thyroid cancer: The American thyroid association guidelines task force on thyroid nodules and differentiated thyroid cancer. Thyroid, 26(1): 1–133. https://doi.org/10.1089/thy.2015.0020

 

  1. Sugitani I, Ito Y, Takeuchi D, et al., 2021, Indications and strategy for active surveillance of adult low-risk papillary thyroid microcarcinoma: Consensus statements from the Japan association of endocrine surgery task force on management for papillary thyroid microcarcinoma. Thyroid, 31(2): 183–192. https://doi.org/10.1089/thy.2020.0330

 

  1. Haser GC, Tuttle RM, Su HK, et al., 2016, Active surveillance for papillary thyroid microcarcinoma: New challenges and opportunities for the health care system. Endocr Pract, 22(5): 602–611. https://doi.org/10.4158/ep151065.ra

 

  1. Orlando G, Scerrino G, Corigliano A, et al., 2022, Papillary thyroid microcarcinoma: Active surveillance against surgery. Considerations of an Italian working group from a systematic review. Front Oncol, 12: 859461. https://doi.org/10.3389/fonc.2022.859461

 

  1. Al-Qurayshi Z, Nilubol N, Tufano RP, et al., 2020, Wolf in sheep’s clothing: Papillary thyroid microcarcinoma in the US. J Am Coll Surg, 230(4): 484–491. https://doi.org/10.1016/j.jamcollsurg.2019.12.036

 

  1. Xu B, Scognamiglio T, Cohen PR, et al., 2017, Metastatic thyroid carcinoma without identifiable primary tumor within the thyroid gland: A retrospective study of a rare phenomenon. Hum Pathol, 65: 133–139. https://doi.org/10.1016/j.humpath.2017.05.013

 

  1. Yakushina VD, Lerner LV, Lavrov AV, 2018, Gene fusions in thyroid cancer. Thyroid, 28(2): 158–167. https://doi.org/10.1089/thy.2017.0318

 

  1. Hsiao SJ, Nikiforov YE, 2014, Molecular approaches to thyroid cancer diagnosis. Endocr Relat Cancer, 21: T301– T313. https://doi.org/10.1530/erc-14-0166

 

  1. Romei C, Elisei R, 2012, RET/PTC translocations and clinico-pathological features in human papillary thyroid carcinoma. Front Endocrinol (Lausanne), 3: 54. https://doi.org/10.3389/fendo.2012.00054

 

  1. Viglietto G, Chiappetta G, Martinez-Tello FJ, et al., 1995, RET/PTC oncogene activation is an early event in thyroid carcinogenesis. Oncogene, 11(6): 1207–1210.

 

  1. Lan X, Bao H, Ge X, et al., 2020, Genomic landscape of metastatic papillary thyroid carcinoma and novel biomarkers for predicting distant metastasis. Cancer Sci, 111(6): 2163–2173. https://doi.org/10.1111/cas.14389

 

  1. Musholt TJ, Staubitz JI, Cámara RJ, et al., 2019, Detection of RET rearrangements in papillary thyroid carcinoma using RT-PCR and FISH techniques-a molecular and clinical analysis. Eur J Surg Oncol, 45(6): 1018–1024. https://doi.org/10.1016/j.ejso.2018.11.009

 

  1. González HE, Martínez JR, Vargas-Salas S, et al., 2017, A 10-gene classifier for indeterminate thyroid nodules: Development and multicenter accuracy study. Thyroid, 27(8): 1058–1067. https://doi.org/10.1089/thy.2017.0067

 

  1. Steward DL, Carty SE, Sippel RS, et al., 2019, Performance of a multigene genomic classifier in thyroid nodules with indeterminate cytology: A prospective blinded multicenter study. JAMA Oncol, 5(2): 204–212. https://doi.org/10.1001/jamaoncol.2018.4616

 

  1. Labourier E, Shifrin A, Busseniers AE, et al., 2015, Molecular testing for miRNA, mRNA, and DNA on fine-needle aspiration improves the preoperative diagnosis of thyroid nodules with indeterminate cytology. J Clin Endocrinol Metab, 100(7): 2743–2750. https://doi.org/10.1210/jc.2015-1158

 

  1. Titov S, Demenkov PS, Lukyanov SA, et al., 2020, Preoperative detection of malignancy in fine-needle aspiration cytology (FNAC) smears with indeterminate cytology (Bethesda III, IV) by a combined molecular classifier. J Clin Pathol, 73(11): 722–727. https://doi.org/10.1136/jclinpath-2020-206445

 

  1. Dias-Santagata D, Lennerz JK, Sadow PM, et al., 2020, Response to RET-specific therapy in RET fusion-positive anaplastic thyroid carcinoma. Thyroid, 30(9): 1384–1389. https://doi.org/10.1089/thy.2019.0477
Share
Back to top
Gene & Protein in Disease, Electronic ISSN: 2811-003X Published by AccScience Publishing
We use cookies on our website to ensure you get the best experience.
Read more about our cookies here
Accept