Update of pathology in medullary thyroid carcinoma

doi:10.16139/j.1007-9610.2023.06.03

Abstract

Abstract:

Medullary thyroid carcinoma (MTC) is a rare thyroid malignancy, which is more aggressive with high metastasis and recurrence rate. Surgical treatment is the preferred treatment option for MTC. Targeted therapy and immunotherapy have gradually become new treatment strategy for MTC. The pathology of MTC was updated in the 5th edition WHO classification of endocrine and neuroendocrine tumor in 2022. This review summarized the update of MTC pathology focusing on the histologic grading schemes, gene screening and genetic counseling.

Key words: Medullary thyroid carcinoma, Histologic grading scheme, Genetic screening, Genetic counseling

CLC Number:

R736.1

LIU Zhiyan, YU Yaling, KAKUDO Kennichi. Update of pathology in medullary thyroid carcinoma[J]. Journal of Surgery Concepts & Practice, 2023, 28(06): 501-506.

Figures/Tables 9

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References 35

[1]	中国临床肿瘤学会指南工作委员会. 中国临床肿瘤学会甲状腺髓样癌诊疗指南2022[M]. 人民卫生出版社, 2022.
	Guidelines Working Committee of the Chinese Society of Clinical Oncology. Chinese Society of Clinical Oncology Diagnosis and Treatment guidelines: myeloid thyroid cancer 2022[M]. People's Health Publishing House, 2022.
[2]	刘志艳, 刘书佚, 王馨培, 等. 第5版WHO甲状腺滤泡源性肿瘤分类解读[J]. 中华病理学杂志, 2023, 52(1):7-12.
	LIU Z Y, LIU S Y, WANG X P, et al. Interpretation of WHO classification of thyroid follicular tumors, 5th edition[J]. Chin J Path, 2023, 52(1):7-12.
[3]	甲状腺细针穿刺细胞病理学诊断专家共识编写组, 中华医学会病理学分会细胞病理学组. 甲状腺细针穿刺细胞病理学诊断专家共识(2023版)[J]. 中华病理学杂志, 2023, 52(5):441-446.
	Expert Consensus Writing Group for Thyroid Fine Needle aspiration cytopathology, Cytopathology Branch of Chinese Society of Pathology. Expert consensus on thyroid fine needle puncture cell pathology diagnosis (2023 edition)[J]. Chin J Path, 2023, 52(5):441-446.
[4]	张晓芳, 刘志艳. 2018版甲状腺细针穿刺活检细胞病理学Bethesda报告系统解读[J]. 中华病理学杂志, 2018, 47(9):729-732.
	ZHANG X F, LIU Z Y. Interpretation of the Bethesda reporting system for cellular pathology in 2018 thyroid fine needle biopsy[J]. Chin J Path, 2018, 47(9):729-732.
[5]	LIU C Y, CHEN C C, BYCHKOV A, et al. Constitutive cytomorphologic features of medullary thyroid carcinoma using different staining methods[J]. Diagnostics (Basel), 2021, 11(8):1396.
[6]	LIU C Y, BYCHKOV A, AGARWAL S, et al. Cytologic diagnosis of medullary thyroid carcinoma in the Asia-Pacific region[J]. Diagn Cytopathol, 2021, 49(1):60-69. doi: 10.1002/dc.v49.1 URL
[7]	徐艳玲, 宋词, 胡平, 等. 神经内分泌肿瘤的流行现状[J]. 中华医学杂志, 2022, 102(14):1042-1046.
	XU Y L, SONG C, HU P, et al. The epidemic status of neuroendocrine tumors[J]. Natl Med J China, 2022, 102(14):1042-1046.
[8]	焦琼, 刘志艳. 第3版甲状腺细针穿刺细胞病理学Bethesda报告系统解读[J]. 中华医学杂志, 2023, 103(41):3238-3244.
	JIAO Q, LIU Z Y. Interpretation of the Bethesda reporting system for thyroid fine needle puncture cell patho-logy, 3rd edition[J]. Natl Med J China, 2023, 103(41):3238-3244.
[9]	ALI S Z, BALOCH Z W, COCHAND-PRIOLLET B, et al. The 2023 Bethesda system for reporting thyroid cytopathology[J]. Thyroid, 2023, 33(9):1039-1044. doi: 10.1089/thy.2023.0141 pmid: 37427847
[10]	MALEKI Z, ABRAM M, DELL'AQUILA M, et al. Insulinoma-associated protein 1 (INSM-1) expression in medullary thyroid carcinoma FNA: a multi-institutional study[J]. J Am Soc Cytopathol, 2020, 9(3):185-190. doi: S2213-2945(20)30032-6 pmid: 32197966
[11]	SEOK J Y, KANG M, DE PERALTA-VENTURINA M, et al. Diagnostic utility of INSM1 in medullary thyroid carcinoma[J]. Int J Surg Pathol, 2021, 29(6):615-626. doi: 10.1177/1066896921995935 URL
[12]	ASA S L, BALOCH Z W, DE KRIJGER R R. WHO classification of tumours series, endocrine and neuroendocrine tumours, 5th ed[M]. Vol. 2: Lyon (France): International Agency for Research on Cancer, 2022.
[13]	KIM M, KIM B H. Current guidelines for management of medullary thyroid carcinoma[J]. Endocrinol Metab (Seoul), 2021, 36(3):514-524. doi: 10.3803/EnM.2021.1082 URL
[14]	ABRAHAM D T, LOW T H, MESSINA M, et al. Medullary thyroid carcinoma: long-term outcomes of surgical treatment[J]. Ann Surg Oncol, 2011, 18(1):219-225. doi: 10.1245/s10434-010-1339-y pmid: 20878247
[15]	EROVIC B M, KIM D, CASSOL C, et al. Prognostic and predictive markers in medullary thyroid carcinoma[J]. Endocr Pathol, 2012, 23(4):232-242. doi: 10.1007/s12022-012-9225-8 pmid: 23150029
[16]	HAZARD J B, HAWK W A, CRILE G Jr. Medullary (solid) carcinoma of the thyroid; a clinicopathologic entity[J]. J Clin Endocrinol Metab, 1959, 19(1):152-161. doi: 10.1210/jcem-19-1-152 URL
[17]	ALZUMAILI B, XU B, SPANHEIMER P M, et al. Grading of medullary thyroid carcinoma on the basis of tumor necrosis and high mitotic rate is an independent predictor of poor outcome[J]. Mod Pathol, 2020, 33(9):1690-1701. doi: 10.1038/s41379-020-0532-1 URL
[18]	FUCHS T L, NASSOUR A J, GLOVER A, et al. A proposed grading scheme for medullary thyroid carcinoma based on proliferative activity (Ki-67 and mitotic count) and coagulative necrosis[J]. Am J Surg Pathol, 2020, 44(10):1419-1428. doi: 10.1097/PAS.0000000000001505 pmid: 32452872
[19]	LUBIN D J, BEHRMAN D B, GOYAL S, et al. Independent validation of the international grading system for medullary thyroid carcinoma: a single institution experience[J]. Mod Pathol, 2023, 36(9):100235. doi: 10.1016/j.modpat.2023.100235 URL
[20]	XU B, FUCHS T L, AHMADI S, et al. International me-dullary thyroid carcinoma grading system: a validated grading system for medullary thyroid carcinoma[J]. J Clin Oncol, 2022, 40(1):96-104.
[21]	NAJDAWI F, AHMADI S, CAPELLETTI M, et al. Evalua-tion of grade in a genotyped cohort of sporadic medullary thyroid carcinomas[J]. Histopathology, 2021, 79(3):427-436. doi: 10.1111/his.v79.3 URL
[22]	JUNG C K, BYCHKOV A, KAKUDO K. Update from the 2022 World Health Organization classification of thyroid tumors: a standardized diagnostic approach[J]. Endocrinol Metab (Seoul), 2022, 37(5):703-718. doi: 10.3803/EnM.2022.1553 URL
[23]	BALOCH Z W, ASA S L, BARLETTA J A, et al. Overview of the 2022 WHO classification of thyroid neoplasms[J]. Endocr Pathol, 2022, 33(1):27-63. doi: 10.1007/s12022-022-09707-3 pmid: 35288841
[24]	MOURA M M, CAVACO B M, LEITE V. RAS proto-oncogene in medullary thyroid carcinoma[J]. Endocr Relat Cancer, 2015, 22(5):R235-R252. doi: 10.1530/ERC-15-0070 URL
[25]	KATO S, SUBBIAH V, MARCHLIK E, et al. RET aberrations in diverse cancers: next-generation sequencing of 4,871 patients[J]. Clin Cancer Res, 2017, 23(8):1988-1997. doi: 10.1158/1078-0432.CCR-16-1679 pmid: 27683183
[26]	SMITH D P, HOUGHTON C, PONDER B A. Germline mutation of RET codon 883 in two cases of de novo MEN 2B[J]. Oncogene, 1997, 15(10):1213-1217. doi: 10.1038/sj.onc.1201481
[27]	NAKAO K T, USUI T, IKEDA M, et al. Novel tandem germline RET proto-oncogene mutations in a patient with multiple endocrine neoplasia type 2B: report of a case and a literature review of tandem RET mutations with in silico analysis[J]. Head Neck, 2013, 35(12):E363-E368.
[28]	Ciampi R, Romei C, Ramone T, et al. Genetic landscape of somatic mutations in a large cohort of sporadic medullary thyroid carcinomas studied by next-generation targeted sequencing[J]. iScience, 2019, 20:324-336. doi: S2589-0042(19)30368-2 pmid: 31605946
[29]	MOHAMMADI M, HEDAYATI M. A brief review on the molecular basis of medullary thyroid carcinoma[J]. Cell J, 2017, 18(4):485-492. pmid: 28042533
[30]	Anon. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma[J]. Pediatrics, 2018, 142(6):e20183062. doi: 10.1542/peds.2018-3062 URL
[31]	ROMEI C, CASELLA F, TACITO A, et al. New insights in the molecular signature of advanced medullary thyroid cancer: evidence of a bad outcome of cases with double RET mutations[J]. J Med Genet, 2016, 53(11):729-734. doi: 10.1136/jmedgenet-2016-103833 URL
[32]	ROMEI C, CIAMPI R, CASELLA F, et al. RET mutation heterogeneity in primary advanced medullary thyroid cancers and their metastases[J]. Oncotarget, 2018, 9(11):9875-9884. doi: 10.18632/oncotarget.23986 pmid: 29515777
[33]	ROMAN S, LIN R, SOSA J A. Prognosis of medullary thyroid carcinoma: demographic, clinical, and pathologic predictors of survival in 1252 cases[J]. Cancer, 2006, 107(9):2134-2142. doi: 10.1002/cncr.22244 pmid: 17019736
[34]	PALAMARCHUK A, EFANOV A, MAXIMOV V, et al. Akt phosphorylates and regulates Pdcd4 tumor suppressor protein[J]. Cancer Res, 2005, 65(24):11282-11286. pmid: 16357133
[35]	余雅玲, 刘志艳. 《CSCO甲状腺髓样癌诊疗指南2022》指南解读:遗传基因检测与遗传咨询[J]. 肿瘤预防与治疗, 2023, 36(11):931-935.
	YU Y L, LIU Z Y. Interpretation of Guidelines of Chinese Society of Clinical Oncology(CSCO) on medullary thyroid cancer:genetic testing and counseling[J]. J Cancer Control Treat, 2023, 36(11):931-935.