Hereditary medullary thyroid cancer
- Authors: Nuralieva N.F.1, Yukina M.Y.1, Troshina E.A.1, Danilova A.V.1
-
Affiliations:
- Endocrinology Research Centre
- Issue: Vol 22, No 4 (2020)
- Pages: 74-78
- Section: Articles
- URL: https://journal-vniispk.ru/2075-1753/article/view/95280
- DOI: https://doi.org/10.26442/20751753.2020.4.200118
- ID: 95280
Cite item
Full Text
Abstract
Medullary thyroid cancer (MTC) is a tumor originating from parafollicular C-cells and producing calcitonin. Hereditary variants consist 20-30% of all cases of MTC. Of these, 60-85% of patients have MEN (multiple endocrine neoplasia) type 2A, 5% have MEN type 2B and 10-35% have familial forms of MTC, which clinically manifest only by MTC. MTC characterized by relatively slow tumor growth and rapid onset of metastasis. Metastases primarily affect the lymph nodes of the neck and mediastinum, distant metastases can be found in the lungs, liver and bone structures. Preventive thyroidectomy is the most effective method of preventing hereditary MTC. Timely diagnosis in accordance with generally accepted recommendations for the management of nodules of the thyroid gland and individualization of treatment tactics based on genetic examination can significantly improve the prognosis of the disease. The article focuses on the management of this category of patients particularly in a patient with MEN 2B syndrome. Key words: multiple endocrine neoplasia type 2B syndrome, RET gene, medullary thyroid cancer, pheochromocytoma. For citation: Nuralieva N.F., Yukina M.Yu., Troshina E.A., Danilova A.V. Hereditary medullary thyroid cancer. Consilium Medicum. 2020; 22 (4): 74-78. DOI: 10.26442/20751753.2020.4.200118
Full Text
##article.viewOnOriginalSite##About the authors
Nurana F. Nuralieva
Endocrinology Research Centreнауч. сотр. отд. терапевтической эндокринологии Moscow, Russia
Marina Yu. Yukina
Endocrinology Research Centre
Email: kuronova@yandex.ru
канд. мед. наук, вед. науч. сотр. отд. терапевтической эндокринологии Moscow, Russia
Ekaterina A. Troshina
Endocrinology Research Centreчл.-кор. РАН, д-р мед. наук, проф., зав. отд. терапевтической эндокринологии, зам. дир. по координации эндокринологической службы Moscow, Russia
Anastasiia V. Danilova
Endocrinology Research Centreклинический ординатор 2-го года обучения Moscow, Russia
References
- Genetics Home Reference. https://ghr.nlm.nih.goV/condition/multiple-endocrine-neoplasia#statistics
- Любченко Л.Н., Амосенко Ф.А., Филиппова М.Г. и др. Медуллярный рак щитовидной железы в составе синдрома МЭН 2Б. Клинический случай. Опухоли головы и шеи. 2013; 4: 23-8.
- Медуллярный рак щитовидной железы. Клинические рекомендации. 2020.
- Yasir M, Kasi A. Multiple Endocrine Neoplasias, Type 2 (MEN II, Pheochromocytoma and Amyloid Producing Medullary Thyroid Carcinoma, Sipple Syndrome). StatPearls. StatPearls Publishing; 2020 Jan.
- Rodriguez JM, Balsalobre M, Ponce JL et al. Pheochromocytoma in MEN 2A Syndrome. Study of 54 Patients. World J Surg 2008; 32: 2520-6. doi: 10.1007/s00268-008-9734-2
- Alevizaki M. Management of hyperparathyroidism (PHP) in MEN2 syndromes in Europe. Thyroid Res 2013; 6 (Suppl. 1): S10.
- Юкина М.Ю., Трошина Е.А., Кузнецов Н.С. и др. Синдром множественной эндокринной неоплазии 2В типа. Лечение и профилактика. 2015; 2 (14): 79-83.
- Makri A, Akshintala S, Derse-Anthony C et al. Pheochromocytoma in Children and Adolescents With Multiple Endocrine Neoplasia Type 2B. J Clin Endocrinol Metab 2019; 104 (1): 7-12. doi: 10.1210/jc.2018-00705
- You YN, Lakhani V, Wells A Jr. New directions in the treatment of thyroid cancer. J Am Coll Surg 2007; 205 (4): 45-8.
- Kebebew E, Kikuchi S, Duh Q, Clark OH. Long-term Results of Reoperation and Localizing Studies in Patients With Persistent or Recurrent Medullary Thyroid Cancer. Arch Surg 2000; 135: 895-901.
- Barbet J. Prognostic Impact of Serum Calcitonin and Carcinoembryonic Antigen Doubling-Times in Patients with Medullary Thyroid Carcinoma. Endocrinol Metab 2005; 90 (11): 6077-84. doi: 10.1210/jc.2005-0044
- Skinner MA, Moley JA, Dilley WG et al. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med 2005; 353 (11): 1105-13.
- Roman S, Lin R, Sosa JA. Prognosis of medullary thyroid carcinoma: demographic, clinical, and pathologic predictors of survival in 1252 cases. Cancer 2006; 107: 2134-42.
- You YN, Lakhani V, Wells SA Jr. New directions in the treatment of thyroid cancer. J Am Coll Surg 2007; 205 (4): 45-8.
- Kloos RT, Eng C, Evans DB et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 2009; 19 (6): 565-612.
- Brandi ML, Gagel RF, Angeli A et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001; 86 (12): 5658-71.
- Skinner MA, Moley JA, Dilley WG et al. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med 2005; 353 (11): 1105-13.
- Sosa JA, Tuggle CT, Wang TS et al. Clinical and economic outcomes of thyroid and parathyroid surgery in children. J Clin Endocrinol 2008; 93: 3058-65.
- Ellenhom JD, Shah JP, Brennan MF. Impact of therapeutic regional lymph node dissection for medullary carcinoma of the thyroid gland. Surgery 1993; 114: 1078-82.
- Orphanet. https: //www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=247709
- Castinetti F, Castinetti F, Moley J et al. A comprehensive review on MEN2B. Endocrine-Related Cancer 2018; 25: T29-T39. https: //doi.org/10.1530/ERC-17-0209
- Agarwal A, Gupta S, Mishra AK et al. Normotensive pheochromocytoma: institutional experience. World J Surg 2005; 29 (9): 1185-8.
Supplementary files
