Multiple Endocrine Neoplasia Type 2B Associated Mixed Medullary and Follicular Thyroid Carcinoma in A Chinese Patient with RET M918T Germline Mutation

doi:10.2174/1871530320666200713092633

	Multiple Endocrine Neoplasia Type 2B Associated Mixed Medullary and Follicular Thyroid Carcinoma in A Chinese Patient with RET M918T Germline Mutation
	Qi, Xiao-Ping 2; Lin, Guo-Bing 3; Chen, Bo 1; Li, Feng 2; Cao, Zhi-Lie 2; Zheng, Wei-Hui 1; Zhao, Jian-Qiang 1
刊名	ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS
	2021
卷号	21
关键词	Thyroid neoplasm medullary thyroid carcinoma mixed medullary-follicular carcinoma multiple endocrine neoplasia type 2B RET proto-oncogene M918T mutation
ISSN号	1871-5303
DOI	10.2174/1871530320666200713092633
通讯作者	Zhao, Jian-Qiang(zhaojianqiang73@163.com)
英文摘要	Background: Mixed medullary and follicular thyroid carcinoma (MMFC) displays heterogeneous morphological components and immunophenotypical features intermingled within the same lesion, which is rare and most described in the sporadic form. We report herein a Chinese patient with multiple endocrine neoplasia type 2B (MEN2B) harboring germline RET M918T and associated MMFC. Methods: A case of a 39-year-old male patient with MEN2B presented palpable neck masses in both thyroid lobes (maximum sizes: left, 3.9 cm; right, 5.4 cm) and a definitive phenotype. Serum levels of calcitonin (Ctn; >2000pg/mL), carcinoembryonic antigen (CEA; 719.27ng/mL), and thyroglobulin (Tg; 98.54ng/mL) were high. Fine-needle aspiration cytology showed features positive for malignancy, suggesting the possibility of medullary thyroid carcinoma (MTC). Total thyroidectomy, along with extending bilateral neck lymph nodes dissection, and subsequently, genetics family screening were performed. Results: The histopathological examination yielded a diagnosis of MMFC that showed immunohistochemical characteristic patterns of the component of MTC positive for Ctn and CEA, chromogranin A, and the follicular carcinoma components were positive for Tg. Lymph node metastasis was observed showing medullary tumoral cells positive for Ctn and follicular-like structures lacking tumor cells positive for Tg staining (T4bN1bM0). Genetics screening confirmed RET M918T (c.2753T>C) mutation manifested in the patient but was not detected in other family members. Follow up showed that the serum Ctn, CEA and Tg levels respectively dropped to 54.38pg/ml, 4.16ng/mL and 0.04ng/mL 16 months after the surgery. Conclusion: Particular and diverse patterns of MMFC should be recognized with immunostaining features. MMFC occurring in a patient with MEN2B harboring RET M918T may be unique biological behavior and the treatment is mostly radical surgery.
资助项目	National Natural Science Foundation of China[81472861] ; Key Project of Zhejiang Province Science and Technology Plan, China[2014C03048-1] ; Medical Science and Technology Project of Zhejiang Province, China[2014KYB219] ; Medical Science and Technology Project of Zhejiang Province, China[2017196976] ; Scientific Research fund of Taizhou Science and Technology Bureau[2018C320007] ; Hangzhou Municipal Commission of Health and Family Planning Science and Technology Program[OO20190253]
WOS关键词	PAPILLARY CARCINOMA ; CELL-CARCINOMA ; GUIDELINES ; MANAGEMENT ; CANCER
WOS研究方向	Endocrinology & Metabolism ; Immunology ; Pharmacology & Pharmacy
语种	英语
出版者	BENTHAM SCIENCE PUBL LTD
WOS记录号	WOS:000620370700020
资助机构	National Natural Science Foundation of China ; Key Project of Zhejiang Province Science and Technology Plan, China ; Medical Science and Technology Project of Zhejiang Province, China ; Scientific Research fund of Taizhou Science and Technology Bureau ; Hangzhou Municipal Commission of Health and Family Planning Science and Technology Program
内容类型	期刊论文
源URL	[http://ir.hfcas.ac.cn:8080/handle/334002/120893]
专题	中国科学院合肥物质科学研究院
通讯作者	Zhao, Jian-Qiang
作者单位	1.Chinese Acad Sci, Inst Canc & Basic Med ICBM, Dept Head & Neck Surg, Canc Hosp,Univ Chinese Acad Sci,Zhejiang Canc Hos, 1 East Banshan Rd, Hangzhou 310022, Zhejiang, Peoples R China 2.Wenzhou Med Univ, PLA Hosp 903, Dept Oncol & Urol Surg, 40 Jichang Rd, Hangzhou 310004, Zhejiang, Peoples R China 3.Wenzhou Med Univ, Dept Urol, Affiliated Wenling Hosp, Chuanan Nan Rd, Wenling 317500, Zhejiang, Peoples R China
推荐引用方式 GB/T 7714	Qi, Xiao-Ping,Lin, Guo-Bing,Chen, Bo,et al. Multiple Endocrine Neoplasia Type 2B Associated Mixed Medullary and Follicular Thyroid Carcinoma in A Chinese Patient with RET M918T Germline Mutation[J]. ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS,2021,21.
APA	Qi, Xiao-Ping.,Lin, Guo-Bing.,Chen, Bo.,Li, Feng.,Cao, Zhi-Lie.,...&Zhao, Jian-Qiang.(2021).Multiple Endocrine Neoplasia Type 2B Associated Mixed Medullary and Follicular Thyroid Carcinoma in A Chinese Patient with RET M918T Germline Mutation.ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS,21.
MLA	Qi, Xiao-Ping,et al."Multiple Endocrine Neoplasia Type 2B Associated Mixed Medullary and Follicular Thyroid Carcinoma in A Chinese Patient with RET M918T Germline Mutation".ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS 21(2021).