Document Type : Case Series
Authors
1 Department of General Surgery, Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran
2 Department of Clinical Pathology, Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran
Abstract
Medullary thyroid carcinoma (MTC) is the third most prevalent thyroid cancer and the most invasive form. This malignancy could be presented either in a sporadically or a familial pattern. Although the majority of cases with this disease are presented sporadically, familial screening is of great necessity in every MTC case since of all heritable cancers, MTCs are the most common malignancies. Therefore, after the familial screening of MTC patients using clinical symptoms along with paraclinical tools, the present study identified 19 familial medullary thyroid carcinoma (FMTC) cases in one family. Since most FMTCs are associated with multiple endocrine neoplasia’s (MEN's) syndrome, it has attracted a great deal of scientific attention. This syndrome was ruled out herein through both genetic and clinical testing in these individuals. Thus, due to the scarcity of the familial form of this disease, the significant number of MTC in a family, and the absence of MEN syndrome in these people, we decided to report 19 patients with MTC in the same family without MEN’s syndrome from southwest of Iran; this report emphasizes the necessity of familial screening even in the absence of the MEN's syndrome.
Keywords
How to cite this article:
Jafari Nodooshan J, Taghipour Zahir S, Neshan M, Soltani HR. Familial medullary thyroid carcinoma without MEN syndrome: a case series study. Middle East J Cancer. 2023;14(2):316-22. doi: 10.30476/mejc.2022.91778.1635.
- Yan KL, Li S, Tseng CH, Kim J, Nguyen DT, Dawood NB, et al. Rising incidence and incidence-based mortality of thyroid cancer in California, 2000-2017. J Clin Endocrinol Metab. 2020;105(6):dgaa121. doi:10.1210/clinem/dgaa121.
- Kim J, Gosnell JE, Roman SA. Geographic influences in the global rise of thyroid cancer. Nat Rev Endocrinol. 2020;16(1):17-29. doi: 10.1038/s41574-019-0263-x.
- Ambrosi F, Righi A, Ricci C, Erickson LA, Lloyd RV, Asioli S. Hobnail variant of papillary thyroid carcinoma: a literature review. Endocr Pathol. 2017;28(4):293-301. doi: 10.1007/s12022-017-9502-7.
- Klaus A, Fathi O, Tatjana TW, Bruno N, Oskar K. Expression of hypoxia-associated protein HIF-1α in follicular thyroid cancer is associated with distant metastasis. Pathol Oncol Res. 2018;24(2):289-96. doi:10.1007/s12253-017-0232-4.
- Grani G, Lamartina L, Durante C, Filetti S, Cooper DS. Follicular thyroid cancer and H，rthle cell carcinoma: challenges in diagnosis, treatment, and clinical management. Lancet Diabetes Endocrinol. 2018;6(6):500-14. doi: 10.1016/S2213-8587(17)30325-X.
- Kushchayev SV, Kushchayeva YS, Tella SH, Glushko T, Pacak K, Teytelboym OM. Medullary thyroid carcinoma: an update on imaging. J Thyroid Res. 2019;2019. doi: 10.1155/2019/1893047.
- Thomas C, Asa S, Ezzat S, Sawka A, Goldstein D. Diagnosis and pathologic characteristics of medullary thyroid carcinoma-review of current guidelines. Curr Oncol. 2019;26(5):338-44. doi: 10.3747/co.26.5539.
- Iacovazzo D, Morrison P, Foulkes W, Ross D, Lugli F, Gabrovska P, et al. RET mutation negative familial medullary thyroid carcinoma: four families and literature review. Society for endocrinology BES 2014. Harrogate, UK: Bio Scientifica; 2014. doi:10.1530/endoabs.34.P425.
- Moo-Young TA, Traugott AL, Moley JF. Sporadic and familial medullary thyroid carcinoma: state of the art. Surgical Clinics. 2009;89(5):1193-204 doi:10.1016/j.suc.2009.06.021.
- Khurana R, Agarwal A, Bajpai VK, Verma N, Sharma AK, Gupta RP, et al. Unraveling the amyloid associated with human medullary thyroid carcinoma. Endocrinology. 2004;145(12):5465-70. doi: 10.1210/en.2004-0780.
- Learoyd DL, Gosnell J, Elston MS, Saurine TJ, Richardson AL, Delbridge LW, et al. Experience of prophylactic thyroidectomy in multiple endocrine neoplasia type 2A kindreds with RET codon 804 mutations. Clin Endocrinol (Oxf). 2005;63(6):636-41. doi: 10.1111/j.1365-2265.2005.02394.x.
- LiVolsi VA. C cell hyperplasia/neoplasia. J Clin Endocrinol Metab. 1997;82(1):39-41. doi: 10.1210/jcem.82.1.3707.
- Mustafa M, Mahadevan D, Daniel R, Bharadwaj A, Aravindan S, Kiran YS. A case report of familial medullary carcinoma thyroid-Seldom seen by surgeons. Indian Journal of Surgery. 2019:1-3. doi: 10.1007/s12262-019-01998-x
- Graves CE, Gosnell JE. Medullary thyroid carcinoma in children. Semin Pediatr Surg. 2020;29(3):150921. doi: 10.1016/j.sempedsurg.2020.150921.
- Moore SW, Appfelstaedt J, Zaahl MG. Familial medullary carcinoma prevention, risk evaluation, and RET in children of families with MEN2. J Pediatr Surg. 2007;42(2):326-32. doi: 10.1016/j.jpedsurg.2006.10.005.
- Hamdy O, Awny S, Metwally I. Medullary thyroid cancer: epidemiological pattern and factors contributing to recurrence and metastasis. Ann R Coll Surg Engl. 2020;102(7):499-503. doi: 10.1308/rcsann.2020.0056.
- Hughes MS, Feliberti E, Perry RR, Vinik A. Multiple endocrine neoplasia type 2A (including familial medullary carcinoma) and type 2B. In: Feingold KR, Anawalt B, Boyce A, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2107.
- Wells Jr SA, Pacini F, Robinson BG, Santoro M. Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. J Clin Endocrinol Metab. 2013;98(8):3149-64. doi:10.1210/jc.2013-1204.
- Costante G, Meringolo D, Durante C, Bianchi D, Nocera M, Tumino S, et al. Predictive value of serum calcitonin levels for preoperative diagnosis of medullary thyroid carcinoma in a cohort of 5817 consecutive patients with thyroid nodules. J Clin Endocrinol Metab. 2007;92(2):450-5. doi: 10.1210/jc.2006-1590.
- Turk Y, Makay O, Ozdemir M, Ertunc G, Demir B, Icoz G, et al. Routine calcitonin measurement in nodular thyroid disease management: is it worthwhile? Ann Surg Treat Res. 2017;92(4):173-8. doi:10.4174/astr.2017.92.4.173.
- Elisei R. Routine serum calcitonin measurement in the evaluation of thyroid nodules. Best Pract Res Clin Endocrinol Metab. 2008;22(6):941-53. doi: 10.1016/j.beem.2008.09.008.
- Silvestre C, Matias JS, Proenca H, Bugalho MJ. Calcitonin screening in nodular thyroid disease: is there a definitive answer? Eur Thyroid J. 2019;8(2):79-82. doi: 10.1159/000494834.
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