Hereditary pheochromocytoma-associated syndromes. Part 1


如何引用文章

全文:

详细

Pheochromocytoma (PCC)/paraganglioma is a catecholamine-secreting tumor of the paraganglion. The hereditary variants of PCC have been previously considered to occur in 10% of cases. The latest researches have clearly demonstrated that the hereditary cause of chromaffin tumors is revealed in a much larger number of patients. There have been the most investigated NF, RET, VHL, SDHD, SDHC, and SDHB gene mutations. New EGLN1/PHD2, KIF1В, SDH5/SDHAF2, IDH1, TMEM127, SDHA, MAX, and HIF2А gene mutations have been recently discovered. This review describes new ideas of the genetic bases of PCC. The authors discuss criteria for patient referral for genetic examination on the basis of the phenotypic manifestations of mutations, such as a malignant course, bilateral adrenal lesion, and age at disease manifestations. Recommendations are determined for carriers to screen for the components of hereditary pathology.

参考

  1. Young WF. Paragangliomas: clinical overview. Ann N Y Acad Sci. 2006;1073:21-29.
  2. DeLellis RA, Lloyd RV, Heitz PU, Eng C. World Health Organization (2004) WHO Classification of Tumours, Pathology and genetics of tumours of endocrine organs. Lyon: IARC Press; 2004.
  3. Neumann H. Pheochromocytoma. In Harrison’s Principles of Internal Medicine. New York; 2008.
  4. Pacak K, Lenders JWM, Eisenhofer G. Introduction. In: Pheochromocytoma diagnosis, localization and treatment. Malden, MA. Blackwell; 2007:1-2.
  5. Klingler HC, Klingler PJ, Martin JK Jr, Smallridge RC, Smith SL, Hinder RA. Pheochromocytoma. Urology. 2001;57:1025-1032.
  6. Pacak K. Preoperative management of the pheochromocytoma patient. J Clin Endocrinol Metab. 2007;92:4069-4079.
  7. Amar L, Servais A, Gimenez-Roqueplo AP. Year of diagnosis, features at presentation, and risk of recurrence in patients with pheochromocytoma or secreting paraganglioma. J Clin Endocrinol Metab. 2005;90:2110-2116.
  8. Bausch B, Borozdin W, Neumann HP. Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma. N Engl J Med. 2006;354(25):2729-2731.
  9. Юкина М.Ю., Трошина Е.А., Бельцевич Д.Г. Феохромоцитома/параганглиома: клинико-генетические аспекты. Проблемы эндокринологии. 2013;3:19-26.
  10. Martin TP, Irving RM, Maher ER. The genetics of paragangliomas: A review. Clin Otolaryngol. 2007;32:7-11.
  11. Benn DE, Gimenez-Roqueplo AP, Reilly JR. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. JClin Endocrinol Metab. 2006;91:827-836.
  12. Schiavi F, Boedeker CC, Bausch B. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA. 2005;294:2057-2063.
  13. Lenders JWM. Guidelines on Pheochromocytoma and Paraganglioma. J Clin Endocrinol Metab. 2014;99(6):1915-1942.
  14. Bornstein SR, Gimenez-Roqueplo AP. Genetic testing in pheochromocytoma: Increasing importance for clinical decision making. Ann N Y Acad Sci. 2006;1073:94-103.
  15. Ponder BAJ. Multiple endocrine neoplasia type 2. In: Scriver CR Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York; 2001:931-942.
  16. Kloos RT. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009;19(6):565-612.
  17. Offit K, Sagi M, Hurley K. Preimplantation genetic diagnosis for cancer syndromes: a new challenge for preventive medicine. JAMA. 2006;296:2727-2730.

补充文件

附件文件
动作
1. JATS XML
下载

版权所有 © Consilium Medicum, 2015

Creative Commons License
此作品已接受知识共享署名-非商业性使用-相同方式共享 4.0国际许可协议的许可。
 

Address of the Editorial Office:

  • Alabyan Street, 13/1, Moscow, 127055, Russian Federation

Correspondence address:

  • Alabyan Street, 13/1, Moscow, 127055, Russian Federation

Managing Editor:

  • Tel.: +7 (926) 905-41-26
  • E-mail: e.gorbacheva@ter-arkhiv.ru

 

 © 2018-2021 "Consilium Medicum" Publishing house


##common.cookie##