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Наследственный медуллярный рак щитовидной железы
Нуралиева Н.Ф., Юкина М.Ю., Трошина Е.А., Данилова А.В. Наследственный медуллярный рак щитовидной железы. Consilium Medicum. 2020; 22 (4): 74–78. DOI: 10.26442/20751753.2020.4.200118
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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
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Аннотация
Медуллярный рак щитовидной железы (МРЩЖ) – это опухоль, происходящая из парафолликулярных С-клеток, продуцирующая кальцитонин. На наследственные формы приходится 20–30% случаев МРЩЖ. Из них 60–85% пациентов с синдромом множественной эндокринной неоплазии (МЭН) типа 2А, 5% с синдромом МЭН типа 2B и 10–35% с семейной формой МРЩЖ, клинически проявляющейся только МРЩЖ. МРЩЖ характеризуется относительно медленным ростом опухоли и быстрым началом метастазирования. Метастазами в первую очередь поражаются лимфатические узлы шеи и средостения, отдаленные метастазы обнаруживаются в легких, печени и костных структурах. Наиболее эффективной в предотвращении наследственного МРЩЖ является превентивная тиреоидэктомия. Своевременная диагностика в соответствии с общепринятыми рекомендациями по ведению узловых образований щитовидной железы и индивидуализация тактики лечения на основании генетического обследования позволяют значительно улучшить прогноз болезни. В статье на примере пациента с синдромом МЭН типа 2В освещены вопросы ведения такой категории больных.
Ключевые слова: синдром множественной эндокринной неоплазии типа 2В, ген RET, медуллярный рак щитовидной железы, феохромоцитома.
Ключевые слова: синдром множественной эндокринной неоплазии типа 2В, ген RET, медуллярный рак щитовидной железы, феохромоцитома.
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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.
Полный текст
Список литературы
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2. 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.
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[Medulliarnyi rak shchitovidnoi zhelezy. Klinicheskie rekomendatsii. 2020 (in Russian).]
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6. Alevizaki M. Management of hyperparathyroidism (PHP) in MEN2 syndromes in Europe. Thyroid Res 2013; 6 (Suppl. 1): S10.
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[Iukina M.Iu., Troshina E.A., Kuznetsov N.S. et al. Sindrom mnozhestvennoi endokrinnoi neoplazii 2V tipa. Lechenie i profilaktika. 2015; 2 (14): 79–83 (in Russian).]
8. 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
9. You YN, Lakhani V, Wells A Jr. New directions in the treatment of thyroid cancer. J Am Coll Surg 2007; 205 (4): 45–8.
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12. 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.
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16. 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.
17. 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.
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19. 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.
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22. Agarwal A, Gupta S, Mishra AK et al. Normotensive pheochromocytoma: institutional experience. World J Surg 2005; 29 (9): 1185–8.
2. 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.
[Liubchenko L.N., Amosenko F.A., Filippova M.G. et al. Medulliarnyi rak shchitovidnoi zhelezy v sostave sindroma MEN 2B. Klinicheskii sluchai. Opukholi golovy i shei. 2013; 4: 23–8 (in Russian).]
3. Медуллярный рак щитовидной железы. Клинические рекомендации. 2020.
[Medulliarnyi rak shchitovidnoi zhelezy. Klinicheskie rekomendatsii. 2020 (in Russian).]
4. 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.
5. 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
6. Alevizaki M. Management of hyperparathyroidism (PHP) in MEN2 syndromes in Europe. Thyroid Res 2013; 6 (Suppl. 1): S10.
7. 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.
[Iukina M.Iu., Troshina E.A., Kuznetsov N.S. et al. Sindrom mnozhestvennoi endokrinnoi neoplazii 2V tipa. Lechenie i profilaktika. 2015; 2 (14): 79–83 (in Russian).]
8. 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
9. You YN, Lakhani V, Wells A Jr. New directions in the treatment of thyroid cancer. J Am Coll Surg 2007; 205 (4): 45–8.
10. 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.
11. 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
12. 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.
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.
14. You YN, Lakhani V, Wells SA Jr. New directions in the treatment of thyroid cancer. J Am Coll Surg 2007; 205 (4): 45–8.
15. Kloos RT, Eng C, Evans DB et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 2009; 19 (6): 565–612.
16. 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.
17. 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.
18. 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.
19. 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.
20. Orphanet. https: //www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=247709
21. 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
22. Agarwal A, Gupta S, Mishra AK et al. Normotensive pheochromocytoma: institutional experience. World J Surg 2005; 29 (9): 1185–8.
________________________________________________
1. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia#statistics
2. Liubchenko L.N., Amosenko F.A., Filippova M.G. et al. Medulliarnyi rak shchitovidnoi zhelezy v sostave sindroma MEN 2B. Klinicheskii sluchai. Opukholi golovy i shei. 2013; 4: 23–8 (in Russian).
3. Medulliarnyi rak shchitovidnoi zhelezy. Klinicheskie rekomendatsii. 2020 (in Russian).
4. 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.
5. 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
6. Alevizaki M. Management of hyperparathyroidism (PHP) in MEN2 syndromes in Europe. Thyroid Res 2013; 6 (Suppl. 1): S10.
7. Iukina M.Iu., Troshina E.A., Kuznetsov N.S. et al. Sindrom mnozhestvennoi endokrinnoi neoplazii 2V tipa. Lechenie i profilaktika. 2015; 2 (14): 79–83 (in Russian).
8. 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
9. You YN, Lakhani V, Wells A Jr. New directions in the treatment of thyroid cancer. J Am Coll Surg 2007; 205 (4): 45–8.
10. 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.
11. 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
12. 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.
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.
14. You YN, Lakhani V, Wells SA Jr. New directions in the treatment of thyroid cancer. J Am Coll Surg 2007; 205 (4): 45–8.
15. Kloos RT, Eng C, Evans DB et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 2009; 19 (6): 565–612.
16. 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.
17. 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.
18. 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.
19. 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.
20. Orphanet. https: //www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=247709
21. 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
22. Agarwal A, Gupta S, Mishra AK et al. Normotensive pheochromocytoma: institutional experience. World J Surg 2005; 29 (9): 1185–8.
Авторы
Н.Ф. Нуралиева, М.Ю. Юкина*, Е.А. Трошина, А.В. Данилова
ФГБУ «Национальный медицинский исследовательский центр эндокринологии», Москва, Россия
*kuronova@yandex.ru
ФГБУ «Национальный медицинский исследовательский центр эндокринологии», Москва, Россия
*kuronova@yandex.ru
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Nurana F. Nuralieva, Marina Yu. Yukina*, Ekaterina A. Troshina, Anastasiia V. Danilova
Endocrinology Research Centre, Moscow, Russia
*kuronova@yandex.ru
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