РЕДКИЕ ВАРИАНТЫ СИНДРОМА МНОЖЕСТВЕННЫХ ЭНДОКРИННЫХ НЕОПЛАЗИЙ
Аннотация
Наряду с общепризнанными синдромами множественных эндокринных неоплазий (МЭН)-1, МЭН-2А и МЭН-2Б, на основе выявленных различных вариантов сочетаний эндокринных и неэндокринных опухолейразных локализаций, выявления генетической специфичности ряда известных ранее заболеваний позволило установить новые варианты и МЭН-подобные (МEN-like) формы наследственных заболеваний, генетическая природакоторых была идентифицирована только в последние два десятилетия. Приводятся новые варианты наследственных синдромов, ассоциированных с первичным гиперпаратиреозом и аденомами гипофиза, их клинические про-явления. Подчеркивается значение молекулярно-генетических исследований для улучшения их диагностики и лечения.
Литература
1. Зайратьянц О.В., Гуревич Л.Е. Синдромы множествен¬ных эндокринных неоплазий // Патологическая анатомия: Национальное руководство. - М.: ГЭОТАР-Медиа, 2011. - С.874-876.
2. Котова И.В., Калинин А.П. Первичный гиперпарати- реоз и синдром множественных эндокринных неоплазий // Проблемы эндокринологии. - 2003. - №3. - С.37-39.
3. Кэплин М., Кволс Л. Нейроэндокринные опухоли: Руководство для врачей - М.: Практическая медицина, 2011. - 224 с.
4. Лукьянов С.А., Сергийко С.В. Болезнь Гиппеля-Линдау тип 2С (VHL-синдром) в двух поколениях одной семьи // Современные аспекты хирургической эндокринологии. - Самара, 2015. - С.484-488.
5. Мамедова Е.О., Пржиялковская Е.Г., Пигарова Е.А. и др. Аденомы гипофиза в рамках наследственных синдромов // Проблемы эндокринологии. - 2014. - №4. - С.51-59.
6. Мамедова Е.О., Мокрышева Н.Г., Пржиялковская Е.Г и др. Варианты и фенокопии синдрома множественных эндо¬кринных неоплазий 1-го типа // Терапевтический архив. - 2014. - №10. - С.87-91.
7. Орлова Е.М., Карева М.А. Карни-комплекс - синдром множественных эндокринных неоплазий // Проблемы эндо-кринологии. - 2012. - №3. - С.22-30.
8. Орлова Е.М., Карева М.А., Захарова Е.Ю. и др. Три слу¬чая Карни-комплекса у детей: клинические и молекулярно-генетические особенности Карни-комплекса у детей (первое описание в России) // Проблемы эндокринологии. - 2012. - №5. - С.50-56.
9. Пинский С.Б., Белобородов В.А., Дворниченко В.В. Множественные эндокринные неоплазии. - Новосибирск: НАУКА, 2012. - 164 с.
10. Привалов Ю.А., Куликов Л.К., Таевская А.К. и др. Карни-комплекс, ассоциированный с эндогенным гиперкор- тицизмом // Современные аспекты хирургической эндокри-нологии. - Самара, 2015. - С.488-493.
11. Шнайдер Н.А., Максимова Ю.В., Максимов В.Н. и др. Туберозный склероз (болезнь Бурневилля-Прингла): Учебное пособие. - Красноярск, 2010. - 112 с.
12. Шнайдер Н.А., Шаповалова Е.А. Нейрофиброматоз 1-го типа (болезнь Реклингаузена) // Вопросы практической педиатрии. - 2011. - Т. 6. №1. - С.83-88.
13. Юкина М.Ю., Тюльпаков А.Н., Трошина Е.А., Бельцевич Д.Г. Болезнь фон Гиппеля-Линдау (VHL-синдром) // Проблемы эндокринологии. - 2012. - №2. - С.34-40.
14. Agarwal S., Ozawa A., Mateo C., et al. Multiple Endocrine Neoplasias // In. Modlin I., Oberg K. A Century of Advances in Neuroendocrine Tumor Biology and Treatment. - Published by Felsenstein. - 2007. - P.276-287.
15. Barakat M., Meeran K. Neuroendocrine tumors // Endocrine Related Cancer. - 2004. - Vol.11. - P1-18.
16. Blazo M., Lewis R., Chintagumpala M., et al. Outcomes of systematic screening for optic pathaway tumors in children with neurofibromatosis type 1 // Am. J. Med. Genet. - 2004. - Vol.127. - P224-229.
17. Boyce A., Chong W., Shawker T., et al. Characterization and management of testicular pathology in Mc Cune-Albright syndrome // J Clin Endocrinol Metab. - 2012. - Vol. 97. - P1782- 1790.
18. Brems H., Beert E., de Ravel T., et al. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1 // Lancet Oncol. - 2009. - Vol. 10. - P508-515.
19. Carney J., Gordon H., Carpenter P., et al. The complex of myxomas, spotty pigmentation, and endocrine overactivity // Medicina (Baltimore). - 1985. - Vol. 64. №4. - P270-283.
20. Carpten J., Robbins C., Villablanca A., et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome // Nat. Genet. - 2002. - Vol. 32. - P676-680.
21. Daly A., Jaffrain-Rea M., Ciccarelli A., et al. Clinical characterization of familial isolated pituitary adenomas // J. Clin. Endocrinol. Metabol. - 2006. - Vol. 91. - P3316-3323.
22. De Bella K., Szudek J., Friedman J. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children // Pediatrics. - 2000. - Vol. 105. - P.608-614.
23. Elefterion F., Kolanczyk M., Schindeler A., et al. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic option // Am. J. Med. Genet. - 2000. - Vol. 149. - P2327-2338.
24. Evans D., Komminoth P., Scheithauer B., Peltonen J. Neurofibromatosis type 1 // De Lellis R., et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.243-248.
25. Falchetti A., Brandi M. Multiple endocrine neoplasia type 1 variants and phenocopies: more than a nosological issue? // J. Clin. Endocrinol. Metab. - 2009. - Vol. 94. №5. - P1518-1520.
26. Ferner R., Huson S., Thomas N., et al. Guidelimes for the diagnosis and management of individuals with neurofibromatosis 1 // J. Med. Genet. - 2007. - Vol. 44. - P81-88.
27. Kim J. Von Hippel-Linday syndrome // Advances in experimental medicine and biology. - 2010. - Vol. 685. - P228- 249.
28. Kirschner L., Carney J., Pack S., et al. Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with the Corney complex // Not Genet. - 2000. - Vol. 26. - P89-92.
29. Learoyd D., Gosnell J., Elston M., et al. Experience of prophylactic thytoidectoy in multiple endocrine neoplasia type 2A codon 804 mutation // Clin. Endocrinol. - 2005. - Vol. 63. №6. - Р636-641.
30. Lee M., Pellegata N. Multiple Endocrine Neoplasia Type 4 // Front Horm Res. - 2013. - Vol. 41. - P63-78. - doi:10.1159/000345670.
31. Legius E., Brems H. Neurofibromatosis type 1 // In. C. Fletcher et al. WHO Classification of Tumours of Soft Tissue and Bone. - IARC, Lyon, 2013. - P386-387.
32. Lietman S., Levine M., Siegal G. Mc Cune-Albright syndrome // In. Fletcher C. et al. WHO Classification of Tumours of soft Tissue and Bone. - IARC, Lyon, 2013. - P382-383.
33. Lopes M., Wiestler O., Stemmer-Rachamimow A., Sharma M. Tuberous sclerosis complex and subependymal giant cell astrocytoma // Louis D., et al. WHO Classification of Tumours of the Central Nervous System. - IARC, Lyon, 2007. - P218-221.
34. Rasmussen S., Yang O., Friedman J. Mortality in neurofibromatosis 1: an analysis using U.S. death sertificates // Am. J. Hum. Genet. - 2001. - Vol. 68. - P1110-1118.
35. Riminucci M., Collins M., Fedarko N., et al. FGF-23 in fibrosus displasia of bone and its relationship to renal phosphate wasting // J. Clin. Invest. - 2003. - Vol. 112. - P.683-692.
36. Roach E., Sparagana S. Diagnosis of tuberous sclerosis complex // J. Child. Neurol. - 2004. - Vol.19. - P.643-649.
37. Simonds W., Roblins C., Agarwal S., et al. Familial isolated hyperparathyroidism is rarely caused by germ line mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome // J. Clun. Endocrinol. Metab. - 2004. - Vol. 89. - P.96- 102.
38. Sipple J. The association of pheocromocitoma with carcinoma of the thyroid gland // Am. J. Med. - 1961. - Vol. 31. - P.163-166.
39. Stratakis C., Carney J. Carney complex // In. De Lellis R. et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC, Press, Lyon. - 2004. - P.249-252.
40. Stratakis C., Kirschner L., Carney J. Clinical and molecular features of the Carney complex, diagnostic criteria and recommendations for patient evaluation // Clin Endocrinol Metab. - 2001. - Vol. 86. №9. - P.4041-4046.
41. Stratakis C., Carney J. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the duad of parangliomas and gastric stromal sarcomas (Carney- Stratakis syndrome): molecular genetics and clinical implicatios // Inter. Med. - 2009. - Vol. 1. - P.43-52.
42. Stratakis C., Carney J. Corney complex // De Lellis R. et al. WHO Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.249-252.
43. Teh B., Sweet K., Morrison C. Hyperparathyroidism- jaw tumor syndrome // De Lellis R., et al. WHO Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.228-229.
44. Thakker R. Genetics of non-gastro-entero-pancreatic neuroendocrine tumors // Modlin I., Oberg K. A Century of Advances in Neuroendocrine Tumor Advances and Treatment. - Publisched by Felsenstein, 2007. - P.192-199.
45. Walker L., Thompson D., Easton D. A prospective study of neurofibromatosis type 1 cancer incidence in the UK // Br. J. Cancer. - 2006. - Vol. 95. - P.233-238.
46. Weinstein L., Aldred M. Mc Cune-Albright syndrome (MAS) // De Lellis R., et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.253-256.
47. Wermer P. Genetic aspects of adenomatosis of endocrine glands // Fm. J. Med. - 1954. - Vol. 16. - P.363-371.
48. Williams V., Lucas J., Babcock M., et al. Neurofibromatosis Type 1 Revisited // Pediatrics. - 2009. - Vol. 123. - P.124-133.
49. Wong W., Agro Coleman H., et al. Genotype-phenotipe correlation in von Hippel-Lindau disease with retinal angiomatosis // Arch. Ophthamology. - 2007. - Vol. 125. №2. - P.239-245.
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15. Barakat M., Meeran K. Neuroendocrine tumors // Endocrine Related Cancer. - 2004. - Vol.11. - P.1-18.
16. Blazo M., Lewis R., Chintagumpala M., et al. Outcomes of systematic screening for optic pathaway tumors in children with neurofibromatosis type 1 // Am. J. Med. Genet. - 2004. - Vol.127. - P.224-229.
17. Boyce A., Chong W., Shawker T., et al. Characterization and management of testicular pathology in Mc Cune-Albright syndrome // J Clin Endocrinol Metab. - 2012. - Vol. 97. - P.1782- 1790.
18. Brems H., Beert E., de Ravel T., et al. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1 // Lancet Oncol. - 2009. - Vol. 10. - P.508-515.
19. Carney J., Gordon H., Carpenter P., et al. The complex of myxomas, spotty pigmentation, and endocrine overactivity // Medicina (Baltimore). - 1985. - Vol. 64. №4. - P.270-283.
20. Carpten J., Robbins C., Villablanca A., et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome // Nat. Genet. - 2002. - Vol. 32. - P.676-680.
21. Daly A., Jaffrain-Rea M., Ciccarelli A., et al. Clinical characterization of familial isolated pituitary adenomas // J. Clin. Endocrinol. Metabol. - 2006. - Vol. 91. - P.3316-3323.
22. De Bella K., Szudek J., Friedman J. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children // Pediatrics. - 2000. - Vol. 105. - P.608-614.
23. Elefterion F., Kolanczyk M., Schindeler A., et al. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic option // Am. J. Med. Genet. - 2000. - Vol. 149. - P.2327-2338.
24. Evans D., Komminoth P., Scheithauer B., Peltonen J. Neurofibromatosis type 1 // De Lellis R., et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.243-248.
25. Falchetti A., Brandi M. Multiple endocrine neoplasia type 1 variants and phenocopies: more than a nosological issue? // J. Clin. Endocrinol. Metab. - 2009. - Vol. 94. №5. - P.1518-1520.
26. Ferner R., Huson S., Thomas N., et al. Guidelimes for the diagnosis and management of individuals with neurofibromatosis 1 // J. Med. Genet. - 2007. - Vol. 44. - P.81-88.
27. Kim J. Von Hippel-Linday syndrome // Advances in experimental medicine and biology. - 2010. - Vol. 685. - P.228- 249.
28. Kirschner L., Carney J., Pack S., et al. Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with the Corney complex // Not Genet. - 2000. - Vol. 26. - P.89-92.
29. Learoyd D., Gosnell J., Elston M., et al. Experience of prophylactic thytoidectoy in multiple endocrine neoplasia type 2A codon 804 mutation // Clin. Endocrinol. - 2005. - Vol. 63. №6. - Р.636-641.
30. Lee M., Pellegata N. Multiple Endocrine Neoplasia Type 4 // Front Horm Res. - 2013. - Vol. 41. - P.63-78. - doi:10.1159/000345670.
31. Legius E., Brems H. Neurofibromatosis type 1 // In. C. Fletcher et al. WHO Classification of Tumours of Soft Tissue and Bone. - IARC, Lyon, 2013. - P.386-387.
32. Lietman S., Levine M., Siegal G. Mc Cune-Albright syndrome // In. Fletcher C. et al. WHO Classification of Tumours of soft Tissue and Bone. - IARC, Lyon, 2013. - P.382-383.
33. Lopes M., Wiestler O., Stemmer-Rachamimow A., Sharma M. Tuberous sclerosis complex and subependymal giant cell astrocytoma // Louis D., et al. WHO Classification of Tumours of the Central Nervous System. - IARC, Lyon, 2007. - P.218-221.
34. Rasmussen S., Yang O., Friedman J. Mortality in neurofibromatosis 1: an analysis using U.S. death sertificates // Am. J. Hum. Genet. - 2001. - Vol. 68. - P.1110-1118.
35. Riminucci M., Collins M., Fedarko N., et al. FGF-23 in fibrosus displasia of bone and its relationship to renal phosphate wasting // J. Clin. Invest. - 2003. - Vol. 112. - P.683-692.
36. Roach E., Sparagana S. Diagnosis of tuberous sclerosis complex // J. Child. Neurol. - 2004. - Vol.19. - P.643-649.
37. Simonds W., Roblins C., Agarwal S., et al. Familial isolated hyperparathyroidism is rarely caused by germ line mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome // J. Clun. Endocrinol. Metab. - 2004. - Vol. 89. - P.96-102.
38. Sipple J. The association of pheocromocitoma with carcinoma of the thyroid gland // Am. J. Med. - 1961. - Vol. 31. - P.163-166.
39. Stratakis C., Carney J. Carney complex // In. De Lellis R. et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC, Press, Lyon. - 2004. - P.249-252.
40. Stratakis C., Kirschner L., Carney J. Clinical and molecular features of the Carney complex, diagnostic criteria and recommendations for patient evaluation // Clin Endocrinol Metab. - 2001. - Vol. 86. №9. - P.4041-4046.
41. Stratakis C., Carney J. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the duad of parangliomas and gastric stromal sarcomas (Carney- Stratakis syndrome): molecular genetics and clinical implicatios // Inter. Med. - 2009. - Vol. 1. - P.43-52.
42. Stratakis C., Carney J. Corney complex // De Lellis R. et al. WHO Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.249-252.
43. Teh B., Sweet K., Morrison C. Hyperparathyroidism- jaw tumor syndrome // De Lellis R., et al. WHO Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.228-229.
44. Thakker R. Genetics of non-gastro-entero-pancreatic neuroendocrine tumors // Modlin I., Oberg K. A Century of Advances in Neuroendocrine Tumor Advances and Treatment. - Publisched by Felsenstein, 2007. - P.192-199.
45. Walker L., Thompson D., Easton D. A prospective study of neurofibromatosis type 1 cancer incidence in the UK // Br. J. Cancer. - 2006. - Vol. 95. - P.233-238.
46. Weinstein L., Aldred M. Mc Cune-Albright syndrome (MAS) // De Lellis R., et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.253-256.
47. Wermer P. Genetic aspects of adenomatosis of endocrine glands // Fm. J. Med. - 1954. - Vol. 16. - P.363-371.
48. Williams V., Lucas J., Babcock M., et al. Neurofibromatosis Type 1 Revisited // Pediatrics. - 2009. - Vol. 123. - P.124-133.
49. Wong W., Agro Coleman H., et al. Genctype-phenotipe correlation in von Hippel-Lindau disease with retinal angiomatosis // Arch. Ophthamology. - 2007. - Vol. 125. №2. - P.239-245.
2. Котова И.В., Калинин А.П. Первичный гиперпарати- реоз и синдром множественных эндокринных неоплазий // Проблемы эндокринологии. - 2003. - №3. - С.37-39.
3. Кэплин М., Кволс Л. Нейроэндокринные опухоли: Руководство для врачей - М.: Практическая медицина, 2011. - 224 с.
4. Лукьянов С.А., Сергийко С.В. Болезнь Гиппеля-Линдау тип 2С (VHL-синдром) в двух поколениях одной семьи // Современные аспекты хирургической эндокринологии. - Самара, 2015. - С.484-488.
5. Мамедова Е.О., Пржиялковская Е.Г., Пигарова Е.А. и др. Аденомы гипофиза в рамках наследственных синдромов // Проблемы эндокринологии. - 2014. - №4. - С.51-59.
6. Мамедова Е.О., Мокрышева Н.Г., Пржиялковская Е.Г и др. Варианты и фенокопии синдрома множественных эндо¬кринных неоплазий 1-го типа // Терапевтический архив. - 2014. - №10. - С.87-91.
7. Орлова Е.М., Карева М.А. Карни-комплекс - синдром множественных эндокринных неоплазий // Проблемы эндо-кринологии. - 2012. - №3. - С.22-30.
8. Орлова Е.М., Карева М.А., Захарова Е.Ю. и др. Три слу¬чая Карни-комплекса у детей: клинические и молекулярно-генетические особенности Карни-комплекса у детей (первое описание в России) // Проблемы эндокринологии. - 2012. - №5. - С.50-56.
9. Пинский С.Б., Белобородов В.А., Дворниченко В.В. Множественные эндокринные неоплазии. - Новосибирск: НАУКА, 2012. - 164 с.
10. Привалов Ю.А., Куликов Л.К., Таевская А.К. и др. Карни-комплекс, ассоциированный с эндогенным гиперкор- тицизмом // Современные аспекты хирургической эндокри-нологии. - Самара, 2015. - С.488-493.
11. Шнайдер Н.А., Максимова Ю.В., Максимов В.Н. и др. Туберозный склероз (болезнь Бурневилля-Прингла): Учебное пособие. - Красноярск, 2010. - 112 с.
12. Шнайдер Н.А., Шаповалова Е.А. Нейрофиброматоз 1-го типа (болезнь Реклингаузена) // Вопросы практической педиатрии. - 2011. - Т. 6. №1. - С.83-88.
13. Юкина М.Ю., Тюльпаков А.Н., Трошина Е.А., Бельцевич Д.Г. Болезнь фон Гиппеля-Линдау (VHL-синдром) // Проблемы эндокринологии. - 2012. - №2. - С.34-40.
14. Agarwal S., Ozawa A., Mateo C., et al. Multiple Endocrine Neoplasias // In. Modlin I., Oberg K. A Century of Advances in Neuroendocrine Tumor Biology and Treatment. - Published by Felsenstein. - 2007. - P.276-287.
15. Barakat M., Meeran K. Neuroendocrine tumors // Endocrine Related Cancer. - 2004. - Vol.11. - P1-18.
16. Blazo M., Lewis R., Chintagumpala M., et al. Outcomes of systematic screening for optic pathaway tumors in children with neurofibromatosis type 1 // Am. J. Med. Genet. - 2004. - Vol.127. - P224-229.
17. Boyce A., Chong W., Shawker T., et al. Characterization and management of testicular pathology in Mc Cune-Albright syndrome // J Clin Endocrinol Metab. - 2012. - Vol. 97. - P1782- 1790.
18. Brems H., Beert E., de Ravel T., et al. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1 // Lancet Oncol. - 2009. - Vol. 10. - P508-515.
19. Carney J., Gordon H., Carpenter P., et al. The complex of myxomas, spotty pigmentation, and endocrine overactivity // Medicina (Baltimore). - 1985. - Vol. 64. №4. - P270-283.
20. Carpten J., Robbins C., Villablanca A., et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome // Nat. Genet. - 2002. - Vol. 32. - P676-680.
21. Daly A., Jaffrain-Rea M., Ciccarelli A., et al. Clinical characterization of familial isolated pituitary adenomas // J. Clin. Endocrinol. Metabol. - 2006. - Vol. 91. - P3316-3323.
22. De Bella K., Szudek J., Friedman J. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children // Pediatrics. - 2000. - Vol. 105. - P.608-614.
23. Elefterion F., Kolanczyk M., Schindeler A., et al. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic option // Am. J. Med. Genet. - 2000. - Vol. 149. - P2327-2338.
24. Evans D., Komminoth P., Scheithauer B., Peltonen J. Neurofibromatosis type 1 // De Lellis R., et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.243-248.
25. Falchetti A., Brandi M. Multiple endocrine neoplasia type 1 variants and phenocopies: more than a nosological issue? // J. Clin. Endocrinol. Metab. - 2009. - Vol. 94. №5. - P1518-1520.
26. Ferner R., Huson S., Thomas N., et al. Guidelimes for the diagnosis and management of individuals with neurofibromatosis 1 // J. Med. Genet. - 2007. - Vol. 44. - P81-88.
27. Kim J. Von Hippel-Linday syndrome // Advances in experimental medicine and biology. - 2010. - Vol. 685. - P228- 249.
28. Kirschner L., Carney J., Pack S., et al. Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with the Corney complex // Not Genet. - 2000. - Vol. 26. - P89-92.
29. Learoyd D., Gosnell J., Elston M., et al. Experience of prophylactic thytoidectoy in multiple endocrine neoplasia type 2A codon 804 mutation // Clin. Endocrinol. - 2005. - Vol. 63. №6. - Р636-641.
30. Lee M., Pellegata N. Multiple Endocrine Neoplasia Type 4 // Front Horm Res. - 2013. - Vol. 41. - P63-78. - doi:10.1159/000345670.
31. Legius E., Brems H. Neurofibromatosis type 1 // In. C. Fletcher et al. WHO Classification of Tumours of Soft Tissue and Bone. - IARC, Lyon, 2013. - P386-387.
32. Lietman S., Levine M., Siegal G. Mc Cune-Albright syndrome // In. Fletcher C. et al. WHO Classification of Tumours of soft Tissue and Bone. - IARC, Lyon, 2013. - P382-383.
33. Lopes M., Wiestler O., Stemmer-Rachamimow A., Sharma M. Tuberous sclerosis complex and subependymal giant cell astrocytoma // Louis D., et al. WHO Classification of Tumours of the Central Nervous System. - IARC, Lyon, 2007. - P218-221.
34. Rasmussen S., Yang O., Friedman J. Mortality in neurofibromatosis 1: an analysis using U.S. death sertificates // Am. J. Hum. Genet. - 2001. - Vol. 68. - P1110-1118.
35. Riminucci M., Collins M., Fedarko N., et al. FGF-23 in fibrosus displasia of bone and its relationship to renal phosphate wasting // J. Clin. Invest. - 2003. - Vol. 112. - P.683-692.
36. Roach E., Sparagana S. Diagnosis of tuberous sclerosis complex // J. Child. Neurol. - 2004. - Vol.19. - P.643-649.
37. Simonds W., Roblins C., Agarwal S., et al. Familial isolated hyperparathyroidism is rarely caused by germ line mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome // J. Clun. Endocrinol. Metab. - 2004. - Vol. 89. - P.96- 102.
38. Sipple J. The association of pheocromocitoma with carcinoma of the thyroid gland // Am. J. Med. - 1961. - Vol. 31. - P.163-166.
39. Stratakis C., Carney J. Carney complex // In. De Lellis R. et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC, Press, Lyon. - 2004. - P.249-252.
40. Stratakis C., Kirschner L., Carney J. Clinical and molecular features of the Carney complex, diagnostic criteria and recommendations for patient evaluation // Clin Endocrinol Metab. - 2001. - Vol. 86. №9. - P.4041-4046.
41. Stratakis C., Carney J. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the duad of parangliomas and gastric stromal sarcomas (Carney- Stratakis syndrome): molecular genetics and clinical implicatios // Inter. Med. - 2009. - Vol. 1. - P.43-52.
42. Stratakis C., Carney J. Corney complex // De Lellis R. et al. WHO Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.249-252.
43. Teh B., Sweet K., Morrison C. Hyperparathyroidism- jaw tumor syndrome // De Lellis R., et al. WHO Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.228-229.
44. Thakker R. Genetics of non-gastro-entero-pancreatic neuroendocrine tumors // Modlin I., Oberg K. A Century of Advances in Neuroendocrine Tumor Advances and Treatment. - Publisched by Felsenstein, 2007. - P.192-199.
45. Walker L., Thompson D., Easton D. A prospective study of neurofibromatosis type 1 cancer incidence in the UK // Br. J. Cancer. - 2006. - Vol. 95. - P.233-238.
46. Weinstein L., Aldred M. Mc Cune-Albright syndrome (MAS) // De Lellis R., et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.253-256.
47. Wermer P. Genetic aspects of adenomatosis of endocrine glands // Fm. J. Med. - 1954. - Vol. 16. - P.363-371.
48. Williams V., Lucas J., Babcock M., et al. Neurofibromatosis Type 1 Revisited // Pediatrics. - 2009. - Vol. 123. - P.124-133.
49. Wong W., Agro Coleman H., et al. Genotype-phenotipe correlation in von Hippel-Lindau disease with retinal angiomatosis // Arch. Ophthamology. - 2007. - Vol. 125. №2. - P.239-245.
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11. Shnayder N.A., Maksimova Yu.V., Maksimov V.N., et al. Tuberous sclerosis (Bourneville-Pringle’s disease): Tutorial. - Krasnoyarsk, 2010. - 112 p. (in Russian)
12. Shnayder N.A., Shapovalova E.A. Neurofibromatosis type 1 (Recklinghausen’s disease) // Voprosyi prakticheskoy pediatrii. - 2011. - Vol. 6. №1. - P.83-88. (in Russian)
13. Yukina M.Yu., Tyulpakov A.N., Troshina E.A., Beltsevich D. G. The disease von Hippel-Lindau (VHL- syndrome) // Problemyi endokrinologii. - 2012. - №2. - P.34-40. (in Russian)
14. Agarwal S., Ozawa A., Mateo C., et al. Multiple Endocrine Neoplasias // In. Modlin I., Oberg K. A Century of Advances in Neuroendocrine Tumor Biology and Treatment. - Published by Felsenstein. - 2007. - P.276-287.
15. Barakat M., Meeran K. Neuroendocrine tumors // Endocrine Related Cancer. - 2004. - Vol.11. - P.1-18.
16. Blazo M., Lewis R., Chintagumpala M., et al. Outcomes of systematic screening for optic pathaway tumors in children with neurofibromatosis type 1 // Am. J. Med. Genet. - 2004. - Vol.127. - P.224-229.
17. Boyce A., Chong W., Shawker T., et al. Characterization and management of testicular pathology in Mc Cune-Albright syndrome // J Clin Endocrinol Metab. - 2012. - Vol. 97. - P.1782- 1790.
18. Brems H., Beert E., de Ravel T., et al. Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1 // Lancet Oncol. - 2009. - Vol. 10. - P.508-515.
19. Carney J., Gordon H., Carpenter P., et al. The complex of myxomas, spotty pigmentation, and endocrine overactivity // Medicina (Baltimore). - 1985. - Vol. 64. №4. - P.270-283.
20. Carpten J., Robbins C., Villablanca A., et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome // Nat. Genet. - 2002. - Vol. 32. - P.676-680.
21. Daly A., Jaffrain-Rea M., Ciccarelli A., et al. Clinical characterization of familial isolated pituitary adenomas // J. Clin. Endocrinol. Metabol. - 2006. - Vol. 91. - P.3316-3323.
22. De Bella K., Szudek J., Friedman J. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children // Pediatrics. - 2000. - Vol. 105. - P.608-614.
23. Elefterion F., Kolanczyk M., Schindeler A., et al. Skeletal abnormalities in neurofibromatosis type 1: approaches to therapeutic option // Am. J. Med. Genet. - 2000. - Vol. 149. - P.2327-2338.
24. Evans D., Komminoth P., Scheithauer B., Peltonen J. Neurofibromatosis type 1 // De Lellis R., et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.243-248.
25. Falchetti A., Brandi M. Multiple endocrine neoplasia type 1 variants and phenocopies: more than a nosological issue? // J. Clin. Endocrinol. Metab. - 2009. - Vol. 94. №5. - P.1518-1520.
26. Ferner R., Huson S., Thomas N., et al. Guidelimes for the diagnosis and management of individuals with neurofibromatosis 1 // J. Med. Genet. - 2007. - Vol. 44. - P.81-88.
27. Kim J. Von Hippel-Linday syndrome // Advances in experimental medicine and biology. - 2010. - Vol. 685. - P.228- 249.
28. Kirschner L., Carney J., Pack S., et al. Mutations of the gene encoding the protein kinase A type 1-alpha regulatory subunit in patients with the Corney complex // Not Genet. - 2000. - Vol. 26. - P.89-92.
29. Learoyd D., Gosnell J., Elston M., et al. Experience of prophylactic thytoidectoy in multiple endocrine neoplasia type 2A codon 804 mutation // Clin. Endocrinol. - 2005. - Vol. 63. №6. - Р.636-641.
30. Lee M., Pellegata N. Multiple Endocrine Neoplasia Type 4 // Front Horm Res. - 2013. - Vol. 41. - P.63-78. - doi:10.1159/000345670.
31. Legius E., Brems H. Neurofibromatosis type 1 // In. C. Fletcher et al. WHO Classification of Tumours of Soft Tissue and Bone. - IARC, Lyon, 2013. - P.386-387.
32. Lietman S., Levine M., Siegal G. Mc Cune-Albright syndrome // In. Fletcher C. et al. WHO Classification of Tumours of soft Tissue and Bone. - IARC, Lyon, 2013. - P.382-383.
33. Lopes M., Wiestler O., Stemmer-Rachamimow A., Sharma M. Tuberous sclerosis complex and subependymal giant cell astrocytoma // Louis D., et al. WHO Classification of Tumours of the Central Nervous System. - IARC, Lyon, 2007. - P.218-221.
34. Rasmussen S., Yang O., Friedman J. Mortality in neurofibromatosis 1: an analysis using U.S. death sertificates // Am. J. Hum. Genet. - 2001. - Vol. 68. - P.1110-1118.
35. Riminucci M., Collins M., Fedarko N., et al. FGF-23 in fibrosus displasia of bone and its relationship to renal phosphate wasting // J. Clin. Invest. - 2003. - Vol. 112. - P.683-692.
36. Roach E., Sparagana S. Diagnosis of tuberous sclerosis complex // J. Child. Neurol. - 2004. - Vol.19. - P.643-649.
37. Simonds W., Roblins C., Agarwal S., et al. Familial isolated hyperparathyroidism is rarely caused by germ line mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome // J. Clun. Endocrinol. Metab. - 2004. - Vol. 89. - P.96-102.
38. Sipple J. The association of pheocromocitoma with carcinoma of the thyroid gland // Am. J. Med. - 1961. - Vol. 31. - P.163-166.
39. Stratakis C., Carney J. Carney complex // In. De Lellis R. et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC, Press, Lyon. - 2004. - P.249-252.
40. Stratakis C., Kirschner L., Carney J. Clinical and molecular features of the Carney complex, diagnostic criteria and recommendations for patient evaluation // Clin Endocrinol Metab. - 2001. - Vol. 86. №9. - P.4041-4046.
41. Stratakis C., Carney J. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the duad of parangliomas and gastric stromal sarcomas (Carney- Stratakis syndrome): molecular genetics and clinical implicatios // Inter. Med. - 2009. - Vol. 1. - P.43-52.
42. Stratakis C., Carney J. Corney complex // De Lellis R. et al. WHO Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.249-252.
43. Teh B., Sweet K., Morrison C. Hyperparathyroidism- jaw tumor syndrome // De Lellis R., et al. WHO Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.228-229.
44. Thakker R. Genetics of non-gastro-entero-pancreatic neuroendocrine tumors // Modlin I., Oberg K. A Century of Advances in Neuroendocrine Tumor Advances and Treatment. - Publisched by Felsenstein, 2007. - P.192-199.
45. Walker L., Thompson D., Easton D. A prospective study of neurofibromatosis type 1 cancer incidence in the UK // Br. J. Cancer. - 2006. - Vol. 95. - P.233-238.
46. Weinstein L., Aldred M. Mc Cune-Albright syndrome (MAS) // De Lellis R., et al. Pathology and Genetics Tumours of Endocrine Organs. - IARC Press, Lyon, 2004. - P.253-256.
47. Wermer P. Genetic aspects of adenomatosis of endocrine glands // Fm. J. Med. - 1954. - Vol. 16. - P.363-371.
48. Williams V., Lucas J., Babcock M., et al. Neurofibromatosis Type 1 Revisited // Pediatrics. - 2009. - Vol. 123. - P.124-133.
49. Wong W., Agro Coleman H., et al. Genctype-phenotipe correlation in von Hippel-Lindau disease with retinal angiomatosis // Arch. Ophthamology. - 2007. - Vol. 125. №2. - P.239-245.
Опубликована
2018-04-13
Как цитировать
ПИНСКИЙ, Семен Борисович et al.
РЕДКИЕ ВАРИАНТЫ СИНДРОМА МНОЖЕСТВЕННЫХ ЭНДОКРИННЫХ НЕОПЛАЗИЙ.
Сибирский медицинский журнал (Иркутск) 16+, [S.l.], v. 141, n. 2, p. 11-18, апр. 2018.
ISSN 1815-7572. Доступно на: <http://smj.ismu.baikal.ru/index.php/osn/article/view/172>. Дата доступа: 23 дек. 2024
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