Update on C-Cell Neuroendocrine Neoplasm: Prognostic and Predictive Histopathologic and Molecular Features of Medullary Thyroid Carcinoma

Sung H, Ferlay J, Siegel RL, Laversanne M, Soerjomataram I, Jemal A, et al. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J Clin. 2021;71(3):209-49. https://doi.org/10.3322/caac.21660.

Article  PubMed  Google Scholar 

Wells SA, Jr., Asa SL, Dralle H, Elisei R, Evans DB, Gagel RF, et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015;25(6):567-610. https://doi.org/10.1089/thy.2014.0335.

Article  PubMed  PubMed Central  Google Scholar 

Barletta JA, Nose V, Sadow PM. Genomics and Epigenomics of Medullary Thyroid Carcinoma: From Sporadic Disease to Familial Manifestations. Endocr Pathol. 2021;32(1):35-43. https://doi.org/10.1007/s12022-021-09664-3.

Article  PubMed  PubMed Central  Google Scholar 

Ahn HY, Chae JE, Moon H, Noh J, Park YJ, Kim SG. Trends in the Diagnosis and Treatment of Patients with Medullary Thyroid Carcinoma in Korea. Endocrinol Metab (Seoul). 2020;35(4):811-9. https://doi.org/10.3803/EnM.2020.709.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Howlader N, Noone AM, Krapcho M, Miller D, Brest A, Yu M, et al.: SEER Cancer Statistics Review, 1975–2016, National Cancer Institute. Bethesda, MD, based on November 2018 SEER data submission. https://seer.cancer.gov/archive/csr/1975_2016/ Accessed September 2022.

Baloch ZW, Asa SL, Barletta JA, Ghossein RA, Juhlin CC, Jung CK, et al. Overview of the 2022 WHO Classification of Thyroid Neoplasms. Endocr Pathol. 2022;33(1):27-63. https://doi.org/10.1007/s12022-022-09707-3.

Article  PubMed  Google Scholar 

Xu B, Fuchs TL, Ahmadi S, Alghamdi M, Alzumaili B, Bani MA, et al. International Medullary Thyroid Carcinoma Grading System: A Validated Grading System for Medullary Thyroid Carcinoma. J Clin Oncol. 2022;40(1):96-104. https://doi.org/10.1200/JCO.21.01329.

Article  PubMed  Google Scholar 

Roman-Gil MS, Pozas J, Rosero-Rodriguez D, Chamorro-Perez J, Ruiz-Granados A, Caracuel IR, et al. Resistance to RET targeted therapy in Thyroid Cancer: Molecular basis and overcoming strategies. Cancer Treat Rev. 2022;105:102372. https://doi.org/10.1016/j.ctrv.2022.102372.

Thein KZ, Velcheti V, Mooers BHM, Wu J, Subbiah V. Precision therapy for RET-altered cancers with RET inhibitors. Trends Cancer. 2021;7(12):1074-88. https://doi.org/10.1016/j.trecan.2021.07.003.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Grevellec A, Tucker AS. The pharyngeal pouches and clefts: Development, evolution, structure and derivatives. Semin Cell Dev Biol. 2010;21(3):325-32. https://doi.org/10.1016/j.semcdb.2010.01.022.

Article  PubMed  Google Scholar 

Nilsson M, Williams D. On the Origin of Cells and Derivation of Thyroid Cancer: C Cell Story Revisited. Eur Thyroid J. 2016;5(2):79-93. https://doi.org/10.1159/000447333.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Adams A, Mankad K, Offiah C, Childs L. Branchial cleft anomalies: a pictorial review of embryological development and spectrum of imaging findings. Insights Imaging. 2016;7(1):69-76. https://doi.org/10.1007/s13244-015-0454-5.

Article  PubMed  Google Scholar 

Abu-Bonsrah KD, Newgreen DF, Dottori M. Development of Functional Thyroid C Cell-like Cells from Human Pluripotent Cells in 2D and in 3D Scaffolds. Cells. 2021;10(11):2897. https://doi.org/10.3390/cells10112897.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Johansson E, Andersson L, Ornros J, Carlsson T, Ingeson-Carlsson C, Liang S, et al. Revising the embryonic origin of thyroid C cells in mice and humans. Development. 2015;142(20):3519-28. https://doi.org/10.1242/dev.126581.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gucer H, Caliskan S, Kefeli M, Mete O. Do You Know the Details of Your PAX8 Antibody? Monoclonal PAX8 (MRQ-50) Is Not Expressed in a Series of 45 Medullary Thyroid Carcinomas. Endocr Pathol. 2020;31(1):33-8. https://doi.org/10.1007/s12022-019-09603-3.

Article  PubMed  Google Scholar 

Baloch Z, Mete O, Asa SL. Immunohistochemical Biomarkers in Thyroid Pathology. Endocr Pathol. 2018;29(2):91-112. https://doi.org/10.1007/s12022-018-9532-9.

Article  CAS  PubMed  Google Scholar 

Rindi G, Mete O, Uccella S, Basturk O, La Rosa S, Brosens LAA, et al. Overview of the 2022 WHO Classification of Neuroendocrine Neoplasms. Endocr Pathol. 2022;33(1):115-54. https://doi.org/10.1007/s12022-022-09708-2.

Article  CAS  PubMed  Google Scholar 

Asa SL, Mete O. Thyroid Neuroendocrine Neoplasms. In: Asa SL, La Rosa S, Mete O, editors. The Spectrum of Neuroendocrine Neoplasia. Cham: Springer International Publishing; 2021. p. 119-36.

Chapter  Google Scholar 

Gurkan E, Gurbuz Y, Tarkun I, Canturk Z, Cetinarslan B. Mixed medullary-papillary carcinoma of the thyroid: report of two cases and review of the literature. Indian J Pathol Microbiol. 2014;57(4):598-602. https://doi.org/10.4103/0377-4929.142684.

Article  PubMed  Google Scholar 

Khandakar H, Agarwal S, Sharma MC, Kandasamy D, Bal C, Rathode Y, et al. Amphicrine Medullary Thyroid Carcinoma - a Case-Based Review Expanding on Its MUC Expression Profile. Endocr Pathol. 2022;33(3):378-87. https://doi.org/10.1007/s12022-022-09725-1.

Article  PubMed  Google Scholar 

Le HT, Nguyen TPX, Hirokawa M, Katoh R, Mitsutake N, Matsuse M, et al. Primary Thyroid Mucoepidermoid Carcinoma (MEC) Is Clinically, Prognostically, and Molecularly Different from Sclerosing MEC with Eosinophilia: A Multicenter and Integrated Study. Endocr Pathol. 2022. https://doi.org/10.1007/s12022-022-09741-1.

Article  PubMed  Google Scholar 

Lebbink CA, Links TP, Czarniecka A, Dias RP, Elisei R, Izatt L, et al. 2022 European Thyroid Association Guidelines for the management of pediatric thyroid nodules and differentiated thyroid carcinoma. Eur Thyroid J. 2022;11(6). https://doi.org/10.1530/ETJ-22-0146.

Salvatore D, Santoro M, Schlumberger M. The importance of the RET gene in thyroid cancer and therapeutic implications. Nat Rev Endocrinol. 2021;17(5):296-306. https://doi.org/10.1038/s41574-021-00470-9.

Article  CAS  PubMed  Google Scholar 

Cancer Genome Atlas Research N. Integrated genomic characterization of papillary thyroid carcinoma. Cell. 2014;159(3):676–90. https://doi.org/10.1016/j.cell.2014.09.050.

Chu YH, Sadow PM. Kinase Fusion-Related Thyroid Carcinomas: Towards Predictive Models for Advanced Actionable Diagnostics. Endocr Pathol. 2022;33(4):421-35. https://doi.org/10.1007/s12022-022-09739-9.

Article  PubMed  Google Scholar 

Romei C, Ciampi R, Elisei R. A comprehensive overview of the role of the RET proto-oncogene in thyroid carcinoma. Nat Rev Endocrinol. 2016;12(4):192-202. https://doi.org/10.1038/nrendo.2016.11.

Article  CAS  PubMed  Google Scholar 

Romei C, Mariotti S, Fugazzola L, Taccaliti A, Pacini F, Opocher G, et al. Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes. Eur J Endocrinol. 2010;163(2):301-8. https://doi.org/10.1530/EJE-10-0333.

Article  CAS  PubMed  Google Scholar 

Sponziello M, Benvenuti S, Gentile A, Pecce V, Rosignolo F, Virzi AR, et al. Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer. Hum Mutat. 2018;39(3):371-7. https://doi.org/10.1002/humu.23378.

Article  CAS  PubMed  Google Scholar 

Grubbs EG, Williams MD, Scheet P, Vattathil S, Perrier ND, Lee JE, et al. Role of CDKN2C Copy Number in Sporadic Medullary Thyroid Carcinoma. Thyroid. 2016;26(11):1553-62. https://doi.org/10.1089/thy.2016.0224.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Heilmann AM, Subbiah V, Wang K, Sun JX, Elvin JA, Chmielecki J, et al. Comprehensive Genomic Profiling of Clinically Advanced Medullary Thyroid Carcinoma. Oncology. 2016;90(6):339-46. https://doi.org/10.1159/000445978.

Article  CAS  PubMed  Google Scholar 

Wang S, Wang B, Xie C, Ye D. RET Proto-oncogene Gene Mutation Is Related to Cervical Lymph Node Metastasis in Medullary Thyroid Carcinoma. Endocr Pathol. 2019;30(4):297-304. https://doi.org/10.1007/s12022-019-09588-z.

Article  CAS  PubMed  Google Scholar 

Ciampi R, Romei C, Ramone T, Prete A, Tacito A, Cappagli V, et al. Genetic Landscape of Somatic Mutations in a Large Cohort of Sporadic Medullary Thyroid Carcinomas Studied by Next-Generation Targeted Sequencing. iScience. 2019;20:324–36. https://doi.org/10.1016/j.isci.2019.09.030.

Elisei R, Cosci B, Romei C, Bottici V, Renzini G, Molinaro E, et al. Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. J Clin Endocrinol Metab. 2008;93(3):682-7. https://doi.org/10.1210/jc.2007-1714.

Article  CAS  PubMed  Google Scholar 

Minna E, Romeo P, Dugo M, De Cecco L, Aiello A, Pistore F, et al. Medullary Thyroid Carcinoma Mutational Spectrum Update and Signaling-Type Inference by Transcriptional Profiles: Literature Meta-Analysis and Study of Tumor Samples. Cancers (Basel). 2022;14(8). https://doi.org/10.3390/cancers14081951.

Ciampi R, Romei C, Cosci B, Vivaldi A, Bottici V, Renzini G, et al. Chromosome 10 and RET gene copy number alterations in hereditary and sporadic Medullary Thyroid Carcinoma. Mol Cell Endocrinol. 2012;348(1):176-82. https://doi.org/10.1016/j.mce.2011.08.004.

Article  CAS  PubMed  Google Scholar 

Agrawal N, Jiao Y, Sausen M, Leary R, Bettegowda C, Roberts NJ, et al. Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS. J Clin Endocrinol Metab. 2013;98(2):E364-9. https://doi.org/10.1210/jc.2012-2703.

Article  CAS  PubMed  Google Scholar 

Nikiforova MN, Wald AI, Roy S, Durso MB, Nikiforov YE. Targeted next-generation sequencing panel (ThyroSeq) for detection of mutations in thyroid cancer. J Clin Endocrinol Metab. 2013;98(11):E1852-60. https://doi.org/10.1210/jc.2013-2292.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Boichard A, Croux L, Al Ghuzlan A, Broutin S, Dupuy C, Leboulleux S, et al. Somatic RAS mutations occur in a large proportion of sporadic RET-negative medullary thyroid carcinomas and extend to a previously unidentified exon. J Clin Endocrinol Metab. 2012;97(10):E2031-5. https://doi.org/10.1210/jc.2012-2092.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moura MM, Cavaco BM, Pinto AE, Leite V. High prevalence of RAS mutations in RET-negative sporadic medullary thyroid carcinomas. J Clin Endocrinol Metab. 2011;96(5):E863-8. https://doi.org/10.1210/jc.2010-1921.

Article  CAS  PubMed 

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