Multiple endocrine neoplasias in children and adolescents
Abstract
The article presents a modern analysis of the family forms of the syndrome of multiple endocrine neoplasia in children and adolescents in foreign and domestic literature. Genetic mutations and characteristic phenotypic manifestations, diagnostic methods, approaches to prevention and treatment are described.
About the Authors
V. V. Smirnov
ГБОУ ВПО РНИМУ им. Н. И. Пирогова МЗ РФ
Russian Federation
Russian Federation
S. A. Miroshnichenko
ГБОУ ВПО РНИМУ им. Н. И. Пирогова МЗ РФ
Russian Federation
Russian Federation
References
1. Дедов И. И., Петеркова В. А., Ширяева Т. Ю. и др. Справочник педиатра-эндокринолога. М.: Литтерра, 2014. 528 с.
2. White M. L., Doherty G. M. Multiple endocrine neoplasia // Surgical Oncology Clinics of North America. 2008; 17: 439–459.
3. Skarulis M. C. Clinical expression of MEN1 at NIH // Ann Intern Med. 1998; 129: 484–494.
4. Gibril F., Schumann M., Pace A., Jensen R. T. Multiple endocrine neoplasia type 1 and Zollinger-Ellison syndrome: a prospective study of 107 cases and comparison with 1009 cases from the literature // Medicine (Baltimore). 2004; 83 (1): 43–83.
5. Brandi M. L., Gagel R. F., Angeli A., Bilezikian J. P., Beck-Peccoz P., Bordi C., ConteDevolx, Falchetti B. A., Gheri R. G., Libroia A., Lips C. J., Lombardi G., Mannelli M., Pacini F., Ponder B. A., Raue F., Skogseid B., Tamburrano G., Thakker R. V., Thompson N. W., Tomassetti P., Tonelli F., Wells S. A. Jr., Marx S. J. Guidelines for diagnosis and therapy of MEN type 1 and type 2 // J Clin. Endocrinol Metab. 2001; 86: 5658–5671.
6. Mindermann T., Wilson C. B. 1995 Pediatric pituitary adenomas // Neurosurgery. 36: 259–269.
7. Эндокринология: Национальное руководство / Под. ред. И. И. Дедова, Г. А. Мельниченко. 2-е изд., перераб. и доп. М.: ГЭОТАР-Медиа, 2016. 1112 с.
8. Allgayer H., Render H., Fulda S. Hereditary Tumors: From genes to clinical consequences. Wiley-VCH, 2009. 530 p.
9. ARUP Online Scientific Resourse. www. arup. utah. edu.
10. Moline J., Eng C. Multiple endocrine neoplasia type 2: an overview // Genet Med. 2011, Sep; 13 (9): 755–764.
11. Cohen M. S., Moley J. F. Surgical treatment of medullary thyroid carcinoma // J Intern Med. 2003, Jun; 253 (6): 616–626.
12. Skinner M. A., DeBenedetti M. K., Moley J. F. et al. Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2 A and 2 B // J Pediatr Surg. 1996, Jan; 31 (1): 177–81; discussion 181–182.
13. Wray C. J., Rich T. A., Waguespack S. G., Lee J. E., Perrier N. D., Evans D. B. Failure to recognize multiple endocrine neoplasia 2B: more common than we think? // Ann Surg Oncol. 2008; 15: 293–301.
14. Kloos R. T., Eng C., Evans D. B. et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association // Thyroid. 2009; 19: 565– 612.
15. Melvin K. E. W., Miller H. H., Tashjian A. M. Early diagnosis of medullary carcinoma of the thyroid gland by means of calcitonin assay // N Engl J Med. 1971; 285: 115–120.
16. Telander R. L., Zimmerman D., van Heerden J. A., Sizemore G. W. Results of early thyroidectomy for medullary thyroid carcinoma in children with multiple endocrine neoplasia type 2 // J Pediatr Surg. 1986; 12: 1190–1194.
17. Fox E., Widemann B. C., Chuk M. K. et al. Vandetanib in Children and Adolescents with Multiple Endocrine Neoplasia Type 2 B Associated Medullary Thyroid Carcinoma // Clin Cancer Res. 2013; 19: 4239–4248.
18. Casey M., Vaughan C. J., He J., Hatcher C. J., Winter J. M., Weremowicz S. et al. Mutations in the protein kinase A R1 alpha regulatory subunit cause familial cardiac myxomas and Carney complex // J Clin Invest. 2000, Sep; 106 (5): R31–38.
19. Briassoulis G., Kuburovic V., Xekouki P., Patronas N., Keil M. F., Lyssikatos C. et al. Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented // J Stroke Cerebrovasc Dis Off J Natl Stroke Assoc. 2012, Nov; 21 (8): 914. e1–8.
20. Turhan S., Tulunay C., Altin T., Dincer I. Second recurrence of familial cardiac myxomas in atypical locations // Can. J. Cardiol. 2008; 24: 715–716.
21. Орлова Е. М., Карева М. А. Карни-комплекс — синдром множественных эндокринных неоплазий // Проблемы эндокринологии. 2012, т. 58, № 3, с. 22–30.
22. Bertherat J. Carney complex (CNC) // Orphanet J Rare Dis. 2006; 1: 21.
23. Wang Z. J., Churchman M., Avizienyte E. et al. Germline mutationsof the LKB1 (STK11) gene in Peutz–Jeghers patients // J Med Genet. 1999; 36: 365–368.
24. Giardiello F. M., Brensinger J. D., Tersmette A. C. et al. Very high risk of cancer in familial Peutz–Jeghers syndrome // Gastroenterology. 2000; 119: 1447–1453.
25. Weiss S. et al. Enzinger and Weiss’s Soft Tissue Tumors. Philadelphia, PA. Elsevier Saunders; 2014.
26. Boyd K. P., Korf B. R., Theos A. Neurofibromatosis type 1 // J Am Acad Dermatol. 2009; 61 (1): 1–14, quiz 15–16.
27. Rosai J. et al. Rosai and Ackerman’s Surgical Pathology. 10 th ed. Philadelphia, PA: Elsevier Saunders; 2011.
28. Hirbe A. C., Gutmann D. H. Neurofibromatosis type 1: a multidisciplinary approach to care // Lancet Neurol. 2014; 13 (8): 834–843.
29. Huynh T. T., Pacak K., Brouwers F. M., Abu-Asab M. S., Worrell R. A., Walther M. M. et al. Different expression of catecholamine transporters in phaeochromocytomas from patients with von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 // Eur J Endocrinol. 2005; 153: 551–563.
30. Chung S. Y., Jeun S. S., Park J. H. Disseminated Hemangioblastoma of the Central Nervous System without Von Hippel-Lindau Disease // Brain tumor research and treatment. 2014, Vol. 2, p. 96–101.
31. Von Hippel E. Vorstellung eine patienten mit einer sehr ungewohnlieben Netzhant // Ber Ophthalmol Ges. 1985, Vol. 24, p. 269.
32. Happle R. The McCune-Albright syndrome: a lethal gene surviving by mosaicism // Clin Genet. 1986; 29 (4): 321–324.
33. Parvanescu A. et al. Lessons from McCune-Albright syndrome-associated intraductal papillary mucinous neoplasms: GNASactivating mutations in pancreatic carcinogenesis // JAMA Surg. 2014; 149 (8): 858–862.
34. Brown R. J., Kelly M. H., Collins M. T. Cushing syndrome in the McCune-Albright syndrome // J Clin Endocrinol Metab. 2010; 95 (4): 1508–5115.
Review
For citations:
Smirnov V.V., Miroshnichenko S.A. Multiple endocrine neoplasias in children and adolescents. Lechaschi Vrach. 2018;(3):25. (In Russ.)
Views:
250
JATS XML
Email this article 
