AccScience Publishing / GPD / Volume 2 / Issue 3 / DOI: 10.36922/gpd.0371
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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*
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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
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/ )
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
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Conflict of interest
All authors have completed the ICMJE uniform disclosure form. The authors have no conflicts of interest to declare.
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Gene & Protein in Disease, Electronic ISSN: 2811-003X Published by AccScience Publishing