1. Lloyd RV, Douglas BR, Young WF. Endocrine diseases. American Registry of Pathology and the Armed Forces Institute of Pathology, Washington 2002.
2.
Livolsi VA. Surgical pathology of the thyroid. Saunders, Philadelphia 1990.
3.
Wells SA, 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: 567-610.
4.
Nikiforov YE, Nikiforova MN. Molecular genetics and diagnosis of thyroid cancer. Nat Rev Endocrinol 2011; 7: 569-580.
5.
Chernock RD, Hagemann IS. Molecular pathology of hereditary and sporadic medullary thyroid carcinomas. Am J Clin Pathol 2015; 143: 768-777.
6.
Barletta JA, Nosé V, Sadow PM. Genomics and epigenomics of medullary thyroid carcinoma: from sporadic disease to familial manifestations. Endocr Pathol 2021; 32: 35-43.
7.
Margraf RL, Crockett DK, Krautscheid PMF, Seamons R, Calderon FRO, Wittwer CT, et al. Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. Hum Mutat 2009; 30: 548-556.
8.
Jin LX, Moley JF. Surgery for lymph node metastases of medullary thyroid carcinoma: a review. Cancer 2016; 122: 358-366.
9.
Dvorakova S, Vaclavikova E, Sykorova V, Vcelak J, Novak Z, Duskova J, et al. Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinomas. Mol Cell Endocrinol 2008; 284: 21-27.
10.
Romei C, Ugolini C, Cosci B, Torregrossa L, Vivaldi A, Ciampi R, et al. Low prevalence of the somatic M918T RET mutation in micro-medullary thyroid cancer. Thyroid 2012; 22: 476-481.
11.
Aydoğan Bİ, Yüksel B, Tuna MM, Navdar Başaran M, Akkurt Kocaeli A, Ertörer ME, et al. Distribution of RET mutations and evaluation of treatment approaches in hereditary medullary thyroid carcinoma in Turkey. J Clin Res Pediatr Endocrinol 2016; 8: 13-20.
12.
Erdogan MF, Gürsoy A, Ozgen G, Cakir M, Bayram F, Ersoy R, et al. Ret proto-oncogene mutations in apparently sporadic Turkish medullary thyroid carcinoma patients: Turkmen study. J Endocrinol Invest 2005; 28: 806-809.
13.
Tiedje V, Ting S, Walter RF, Herold T, Worm K, Badziong J, et al. Prognostic markers and response to vandetanib therapy in sporadic medullary thyroid cancer patients. Eur J Endocrinol 2016; 175: 173-180.
14.
Wei S, LiVolsi VA, Montone KT, Morrissette JJD, Baloch ZW. Detection of molecular alterations in medullary thyroid carcinoma using next-generation sequencing: an ınstitutional experience. Endocr Pathol 2016; 27: 359- 362.
15.
Machens A, Niccoli-Sire P, Hoegel J, Frank-Raue K, van Vroonhoven TJ, Roeher HD, et al. Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med 2003; 349: 1517-1525.
16.
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: E1852-1860.
17.
Simbolo M, Mian C, Barollo S, Fassan M, Mafficini A, Neves D, et al. High-throughput mutation profiling improves diagnostic stratification of sporadic medullary thyroid carcinomas. Virchows Arch 2014; 465: 73-78.
18.
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: E364-369.
19.
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: 339-346.
20.
Diwaker C, Sarathi V, Jaiswal SK, Shah R, Deshmukh A, Thomas AE, et al. Hereditary medullary thyroid carcinoma syndromes: experience from western India. Fam Cancer 2021; 20: 241-251.
21.
Shendure J, Ji H. Next-generation DNA sequencing. Nat Biotechnol 2008; 26: 1135-1145.
22.
Schuster SC. Next-generation sequencing transforms today’s biology. Nat Methods 2008; 5: 16-18.
23.
Yang A, Zhang W, Wang J, Yang K, Han Y, Zhang L. Review on the application of machine learning algorithms in the sequence data mining of DNA. Front Bioeng Biotechnol 2020; 8: 1032.
24.
Giani AM, Gallo GR, Gianfranceschi L, Formenti G. Long walk to genomics: history and current approaches to genome sequencing and assembly. Comput Struct Biotechnol J 2020; 18: 9-19.
25.
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: E863-868.
26.
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: E2031-2035.
27.
Endocrine and Neuroendocrine Tumors, WHO Classification of Tumors, 5th Edition, Volume 10, Lyon (France). WHO Classification of Tumours Editorial Board 2025.
28.
Amin MB, Greene FL, Edge SB, Compton CC, Gershenwald JE, Brookland RK, et al. The eighth edition AJCC cancer staging manual: continuing to build a bridge from a population-based to a more “personalized” approach to cancer staging. CA Cancer J Clin 2017; 67: 93-99.
29.
Organisation mondiale de la santé, Centre international de recherche sur le cancer, eds. WHO classification of tumours of endocrine organs. 4th ed. International Agency for Research on Cancer, Lyon 2017.
30.
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: 96-104.
31.
Koperek O, Scheuba C, Puri C, Birner P, Haslinger C, Rettig W, et al. Molecular characterization of the desmoplastic tumor stroma in medullary thyroid carcinoma. Int J Oncol 2007; 31: 59-67.
32.
Albores-Saavedra J, Rose GG, Ibanez ML, Russell WO, Grey CE, Dmochowski L. The amyloıd ın solıd carcınoma of the thyroıd gland. Staınıng characterıstıcs, tıssue culture, and electron mıcroscopıc observatıons. Lab Invest 1964; 13: 77-93.
33.
Perry A, Molberg K, Albores-Saavedra J. Physiologic versus neoplastic C-cell hyperplasia of the thyroid: separation of distinct histologic and biologic entities. Cancer 1996; 77: 750-756.
34.
Available from: https://documents.cap.org/protocols/Thyroid_4.4.0.0.REL_CAPCP.pdf.
35.
Available from: https://www.genome.jp/kegg/pathway.html.
36.
Available from: https://karchinlab.github.io/CHASMplus.
37.
Tokheim C, Karchin R. CHASMplus reveals the scope of somatic missense mutations driving human cancers. Cell Syst 2019; 9: 9-23.e8.
38.
Polistena A, Sanguinetti A, Lucchini R, Galasse S, Monacelli M, Avenia S, et al. Timing and extension of lymphadenectomy in medullary thyroid carcinoma: a case series from a single institution. Int J Surg 2017; 41: S70-S74.
39.
Saad MF, Ordonez NG, Rashid RK, Guido JJ, Hill CS, Hickey RC, et al. Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients. Medicine (Baltimore) 1984; 63: 319-342.
40.
Gharib H, McConahey WM, Tiegs RD, Bergstralh EJ, Goellner JR, Grant CS, et al. Medullary thyroid carcinoma: clinicopathologic features and long-term follow-up of 65 patients treated during 1946 through 1970. Mayo Clin Proc 1992; 67: 934-940.
41.
Schröder S, Böcker W, Baisch H, Bürk CG, Arps H, Meiners I, et al. Prognostic factors in medullary thyroid carcinomas. Survival in relation to age, sex, stage, histology, immunocytochemistry, and DNA content. Cancer 1988; 61: 806-816.
42.
Al-Qurayshi Z, Khadra H, Chang K, Pagedar N, Randolph GW, Kandil E. Risk and survival of patients with medullary thyroid cancer: national perspective. Oral Oncol 2018; 83: 59-63.
43.
Moses LE, Oliver JR, Rotsides JM, Shao Q, Patel KN, Morris LGT, et al. Nodal disease burden and outcome of medullary thyroid carcinoma. Head Neck 2021; 43: 577-584.
44.
Hyer SL, Vini L, A’Hern R, Harmer C. Medullary thyroid cancer: multivariate analysis of prognostic factors influencing survival. Eur J Surg Oncol 2000; 26: 686-690.
45.
Miccoli P, Minuto MN, Ugolini C, Molinaro E, Basolo F, Berti P, et al. Clinically unpredictable prognostic factors in the outcome of medullary thyroid cancer. Endocr Relat Cancer 2007; 14: 1099-1105.
46.
Contarino A, Dolci A, Maggioni M, Porta FM, Lopez G, Verga U, et al. Is encapsulated medullary thyroid carcinoma associated with a better prognosis? A case series and a review of the literature. Front Endocrinol (Lausanne) 2022; 13: 866572.
47.
Cupisti K, Wolf A, Raffel A, Schott M, Miersch D, Yang Q, et al. Long-term clinical and biochemical follow-up in medullary thyroid carcinoma: a single institution’s experience over 20 years. Ann Surg 2007; 246: 815-821.
48.
Guyétant S, Josselin N, Savagner F, Rohmer V, Michalak S, Saint-André JP. C-cell hyperplasia and medullary thyroid carcinoma: clinicopathological and genetic correlations in 66 consecutive patients. Mod Pathol 2003; 16: 756-763.
49.
Kaserer K, Scheuba C, Neuhold N, Weinhäusel A, Haas OA, Vierhapper H, et al. Sporadic versus familial medullary thyroid microcarcinoma: a histopathologic study of 50 consecutive patients. Am J Surg Pathol 2001; 25: 1245-1251.
50.
Salvatore D, Santoro M, Schlumberger M. The importance of the RET gene in thyroid cancer and therapeutic implications. Nat Rev Endocrinol 2021; 17: 296-306.
51.
De Groot JWB, Links TP, Plukker JTM, Lips CJM, Hofstra RMW. RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. Endocr Rev 2006; 27: 535-560.
52.
Stransky N, Cerami E, Schalm S, Kim JL, Lengauer C. The landscape of kinase fusions in cancer. Nat Commun 2014; 5: 4846.
53.
Kato S, Subbiah V, Marchlik E, Elkin SK, Carter JL, Kurzrock R. RET aberrations in diverse cancers: next-generation sequencing of 4,871 patients. Clin Cancer Res 2017; 23: 1988-1997.
54.
Hutchison CA. DNA sequencing: bench to bedside and beyond. Nucleic Acids Res 2007; 35: 6227-6237.
55.
Erdogdu IH., Orenay-Boyacioglu S, Boyacioglu O, Kahraman-Cetin N, Guler H, Turan M, et al. Microsatellite instability and somatic gene variant profile in solid organ tumors. Arch Med Sci 2024; 20: 1672-1679
56.
Adamska M, Kowal-Wiœniewska E, Czerwiñska-Rybak J, Kiwerska K, Barañska M, Gronowska W, et al. Defining the mutatio- nal profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing. Contemp Oncol 2023; 27: 269-279.
57.
Qu N, Shi X, Zhao JJ, Guan H, Zhang TT, Wen SS, et al. Genomic and transcriptomic characterization of sporadic medullary thyroid carcinoma. Thyroid 2020; 30: 1025-1036.
58.
Altaykan A, Ersoy-Evans S, Emre S, Orhan D, Güçer S, Erkin G. Multiple endocrine neoplasia type 2b associated with lichen nitidus. Eur J Dermatol 2007; 17: 292-294.
59.
Rodríguez-Antona C, Pallares J, Montero-Conde C, Inglada-Pérez L, Castelblanco E, Landa I, et al. Overexpression and activation of EGFR and VEGFR2 in medullary thyroid carcinomas is related to metastasis. Endocr Relat Cancer 2010; 17: 7-16.
60.
Verrienti A, Tallini G, Colato C, Boichard A, Checquolo S, Pecce V, et al. RET mutation and increased angiogenesis in medullary thyroid carcinomas. Endocr Relat Cancer 2016; 23: 665-676.
61.
Kann BH, Hosny A, Aerts HJWL. Artificial intelligence for clinical oncology. Cancer Cell 2021; 39: 916-927.
62.
Maliszewska A, Leandro-Garcia LJ, Castelblanco E, Macià A, de Cubas A, Goméz-López G, et al. Differential gene expression of medullary thyroid carcinoma reveals specific markers associated with genetic conditions. Am J Pathol 2013; 182: 350-362.
63.
Karunamurthy A, Panebianco F, J Hsiao S, Vorhauer J, Nikiforova MN, Chiosea S, et al. Prevalence and phenotypic correlations of EIF1AX mutations in thyroid nodules. Endocr Relat Cancer 2016; 23: 295-301.
64.
Simões-Pereira J, Moura MM, Marques IJ, Rito M, Cabrera RA, Leite V, et al. The role of EIF1AX in thyroid cancer tumourigenesis and progression. J Endocrinol Invest 2019; 42: 313-318.
65.
Karslioglu French E, Nikitski AV, Yip L, Nikiforova MN, Nikiforov YE, Carty SE. Clinicopathological features and outcomes of thyroid nodules with EIF1AX mutations. Endocr Relat Cancer 2022; 29: 467-473.
66.
Hinnebusch AG. Molecular mechanism of scanning and start codon selection in eukaryotes. Microbiol Mol Biol Rev 2011; 75: 434-467.
67.
Wang Q, Holst J. L-type amino acid transport and cancer: targeting the mTORC1 pathway to inhibit neoplasia. Am J Cancer Res 2015; 5: 1281-1294.