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Multiple Endocrine Neoplasia Type 1 Syndrome


Authors: B. Bendlová 1 ;  Š. Dvořáková 1;  P. Vlček 2;  J. Čáp 3
Authors place of work: Endokrinologický ústav, Oddělení klinické endokrinologi e, Praha 1;  Klinika nukle ární medicíny a endokrinologi e, 2. LF UK a FN Motol, Praha 2;  II. interní klinika, LF UK a FN Hradec Králové 3
Published in the journal: Klin Onkol 2009; 22(Supplementum): 25-27


Zdroje

1. Agarwal SK, Kester MB, Debelenko LV et al. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet 1997; 6(7): 1169– 1175.

2. Agarwal SK, Lee Burns A, Sukhodolets KE et al. Molecular patology of the MEN1 gene. Ann N Y Acad Sci 2004; 1014: 189– 198.

3. Asghari an B, Turner ML, Gibril F et al. Cutaneous tumors in patients with multiple endocrine neoplasm type 1 (MEN1) and gastrinomas: prospective study of frequency and development of criteria with high sensitivity and specificity for MEN1. J Clin Endocrinol Metab 2004; 89(11): 5328– 5336.

4. Bartsch DK, Langer P, Wild A et al. Pancre aticoduodenal endocrine tumors in multiple endocrine neoplasi a type 1: surgery or surveillance? Surgery 2000; 128(6): 958– 966.

5. Bassett JH, Forbes SA, Pannett AA et al. Characterizati on of mutations in patiens with multiple endocrine neoplasia type 1. Am J Hum Genet 1998; 62(2): 232– 244.

6. Bergman L, Teh B, Cardinal J. Identificati on of MEN1 gene mutations in families with MEN1 and related disorders. Br J Cancer 2000; 83(8): 1009– 1014.

7. 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– 5671.

8. Carling T. Multiple endocrine neoplasi a syndrome: genetic basis for clinical management. Curr Opin Oncol 2005; 17(1): 7– 12.

9. Carling T, Udelsman R. Parathyroid surgery in familial hyperparathyroid disorders. J Intern Med 2005; 257(1): 27– 37.

10. Carrasco CA, Gonzalez AA, Carvajal CA et al. Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism. J Clin Endocrinol Metab 2004; 89(8): 4124– 4129.

11. Doherty GM, Olson JA, Frisella MM et al. Lethality of multiple endocrine neoplasi a type I. World J Surg 1998; 22(6): 581– 586.

12. Elaraj DM, Skarulis MC, Libutti SK et al. Results of initial operati on for hyperparathyroidism in patients with multiple endocrine neoplasi a type 1. Surgery 2003; 134(6): 858– 864.

13. Ellard S, Hattersley At, Brewer CM et al. Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clin Endocrinol (Oxf ) 2005; 62: 169– 175.

14. Geerdink EA, Van der Luijt RB, Lips CL. Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening? Eur J Endocrinol 2003; 149(6): 577– 582.

15. Guo SS, Sawicki MP. Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type- 1. Mol Endocrinol 2001; 15(10): 1653– 1664.

16. Klein RD, Salih S, Bessoni J et al. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genet Med 2005; 7(2): 131– 138.

17. Kouvaraki MA, Lee JE, Shapiro SE et al. Genotype- phenotype analysis in multiple endocrine neoplasia type 1. Arch Surg 2002; 137(6): 641– 647.

18. Lairmore TC, Piersall LD, DeBenedetti MK et al. Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1). Ann Surg 2004; 239(5): 637– 645.

19. Langer P, Kann PH, Fendrich V et al. Prospective evaluation of imaging procedures for the detection of pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. World J Surg 2004; 28(12): 1317– 1322.

20. Lemmens I, Merregart J, Van de Ven WJ et al. Construction of a 1,2- Mb sequence‑ready contig of chromosome 11q13 encompassing the multiple andocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Genomics 1997; 44(1): 94– 100.

21. Lips CJ. Clinical management of the multiple endocrine neoplasia syndromes: results of a computerized opinion poll at the Six International Workshop on Multiple Endocrine Neoplasia and von Hippel- Lindau disease. J Intern Med 1998; 243: 589– 594.

22. Marx SJ. Multiple endocrine neoplasia type 1. In: Scriver CR, Be a udet AL, Sly WS et al (eds). The metabolic and Molecular basis of inherited disease. 8 ed. New York: Mc-Graw- Hill 2001: 943– 966.

23. Pannett AA , Thakker RV. Somatic mutations in MEN type 1 tumors, consistent with the Knudson “two‑hit” hypothesis. J Clin Endocrinol Metab 2001; 86(9): 4371– 4374.

24. Pi echa G, Chudek J, Wiecek A. Multiple endocrine neoplasia type 1. Eur J Intern Med 2008; 19: 99– 103.

25. Sato M, Matsubara S, Murao K et al. Multiple endocrine neoplasia type 1: usefulness of genetic tests in atypical cases. Intern Med 2001; 40(6): 461– 462.

26. Tonelli F, Fratini G, Falchetti A et al. Surgery for gastroenteropancreatic tumors in multiple endocrine neoplasia type 1: review and personal experience. J Intern Med 2005; 257(1): 38– 49.

27. Zhuang Z, Ezzat SZ, Vortmeyer AO et al. Mutations in MEN1 tumor suppressor gene in pituitary tumors. Cancer Res 1997; 57(24): 5446– 5451.

28. Multiple Endocrine Neoplasia Type 1. Gene Reviews – NCBI Bookshelf. Dostupné z: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=men1.

Štítky
Paediatric clinical oncology Surgery Clinical oncology

Článok vyšiel v časopise

Clinical Oncology

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2009 Číslo Supplementum
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