Rare variants of syndrome of multiple endocrine neoplasia
Abstract
Along with the generally recognized syndromes MEN-1, MEN-2A and MEN-2B, on the basis of the various options of identified combinations of endocrine and non-endocrine tumors of different localizations, identifying the genetic specificity of a number of previously known diseases allowed to establish new options and MEN-like forms of hereditary diseases, the genetic nature of which has been identified only in the last two decades. The new versions of hereditary syndromes, associated with primary hyperparathyroidism and pituitary adenomas, their clinical manifestation are presented. The importance of molecular genetics research to improve diagnosis and treatment is shown.
References
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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.
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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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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.
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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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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.
Published
2018-04-13
How to Cite
ПИНСКИЙ, Семен Борисович et al.
Rare variants of syndrome of multiple endocrine neoplasia.
Sibirskij Medicinskij Zurnal (Irkutsk) = Siberian Medical Journal (Irkutsk) 16+, [S.l.], v. 141, n. 2, p. 11-18, apr. 2018.
ISSN 1815-7572. Available at: <http://smj.ismu.baikal.ru/index.php/osn/article/view/172>. Date accessed: 01 jan. 2026.
Issue
Section
Scientific reviews
