High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients

European Journal of Endocrinology

Volumn 168, Issue 5, 2013, Pages 683-687

  Imai, Tsuneo ^a   Uchino, Shinya ^b   Okamoto, Takahiro ^c   Suzuki, Shinichi ^d   Kosugi, Shinji ^e   Kikumori, Toyone ^f   Sakurai, Akihiro ^g  

^a AICHI MEDICAL UNIVERSITY   (Japan)

^b Noguchi Thyroid Clinic and Hospital Foundation   (Japan)

^c TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^d FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^e KYOTO UNIVERSITY   (Japan)

^f NAGOYA UNIVERSITY   (Japan)

^g SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN RET;

ADRENALECTOMY; ADULT; AGED; ARTICLE; CODON; FEMALE; GENE MUTATION; HUMAN; JAPAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; MULTIPLE ENDOCRINE NEOPLASIA; NEUROFIBROMATOSIS; PENETRANCE; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; RET GENE; RETROSPECTIVE STUDY; THYROID MEDULLARY CARCINOMA;

ADRENAL GLAND NEOPLASMS; ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; CARCINOMA, MEDULLARY; FEMALE; GERM-LINE MUTATION; HUMANS; JAPAN; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; PENETRANCE; PHENOTYPE; PHEOCHROMOCYTOMA; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS;

EID: 84877140136     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-1106     Document Type: Article

References (19)

1. Carney JA, Sizemore GW & Hayles AB. Multiple endocrine neoplasia, type 2b. Pathobiology Annual 1978 8 105-153.
2. Casanova S, Rosenberg-Bourgin M, Farkas D., Calmettes C, Feingold N, Heshmati H.M., Cohen R., Conte-Devolx B, Guillausseau PJ, Houdent C et al. Phaeochromocytoma in multiple endocrine neoplasia type 2 A: survey of 100 cases. Clinical Endocrinology 1993 38 531-537. (doi:10.1111/j.1365-2265. 1993.tb00350.x)
3. Modigliani E, Vasen HM, Raue K, Dralle H., Frilling A, Gheri RG, Brandi ML, Limbert E, Niederle B., Forgas L et al. Pheochromocy-toma in multiple endocrine neoplasia type 2: European study. The Euromen Study Group. Journal of Internal Medicine 1995 238 363-367. (doi:10.1111/j.1365-2796.1995.tb01211.x)
4. Brandi ML, Gagel RF, Angeli A, Bilezikian J.P., Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A., Gheri RG, Libroia A et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. Journal of Clinical Endocrinology and Metabolism 2001 86 5658-5671. (doi:10.1210/jc.86.12.5658)
5. American Thyroid Association Guidelines Task F, Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 2009 19 565-612. (doi:10.1089/thy.2008.0403)
6. Milos IN, Frank-Raue K, Wohllk N., Maia AL, Pusiol E, Patocs A, Robledo M., Biarnes J, Barontini M, Links TP et al. Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGCOTGG) mutation. Endocrine-Related Cancer 2008 15 1035-1041. (doi:10.1677/ERC-08-0105)
7. Kinlaw WB, Scott SM, Maue R.A., Memoli VA, Harris RD, Daniels GH, Porter DM, Belloni D.R., Spooner ET, Ernesti MM et al. Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma. Clinical Endocrinology 2005 63 676-682. (doi:10.1111/j.1365-2265.2005.02400.x)
8. Toledo RA, Wagner SM, Coutinho F.L., Lourenco DM Jr, Azevedo JA, Longuini VC, Reis MT, Siqueira SA, Lucon AM, Tavares MR et al. High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protoonco-gene. Journal of Clinical Endocrinology and Metabolism 2010 95 1318-1327. (doi:10.1210/jc.2009-1355)
9. Machens A, Brauckhoff M, Holzhausen H.J., Thanh PN, Lehnert H & Dralle H. Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. Journal of Clinical Endocrinology and Metabolism 2005 90 3999-4003. (doi:10.1210/jc. 2005-0064)
10. Lairmore TC, Ball DW, Baylin SB & Wells S. Jr. Management of pheochromocytomas in patients with multiple endocrine neo-plasia type 2 syndromes. Annals of Surgery 1993 217 595-601. (doi:10.1097/00000658-199306000- 00001)
11. Rodriguez JM, Balsalobre M, Ponce J.L., Rios A., Torregrosa NM, Tebar J & Parrilla P. Pheochromocytoma in MEN 2A syndrome. Study of 54 patients. World Journal of Surgery 2008 32 2520-2526. (doi:10.1007/s00268-008-9734-2)
12. Sakurai A, Suzuki S, Kosugi S., Okamoto T, Uchino S, Miya A., Imai T, Kaji H, Komoto I, Miura D et al. Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database. Clinical Endocrinology 2012 76 533-539. (doi:10.1111/j.1365-2265.2011.04227.x)
13. Ito Y, Obara T, Okamoto T., Kanbe M, Tanaka R, Iihara M., Okamoto J, Yamazaki K & Jibiki K. Efficacy of single-voided urine metanephrine and normetanephrine assay for diagnosing pheo-chromocytoma. World Journal of Surgery 1998 22 684-688. (doi:10.1007/s002689900453)
14. Eng C, Clayton D, Schuffenecker I., Lenoir G, Cote G, Gagel R.F., van Amstel HK, Lips CJ, Nishisho I, Takai SI et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. Journal of the American Medical Association 1996 276 1575-1579. (doi:10.1001/jama.1996. 03540190047028)
15. Quayle FJ, Fialkowski EA, Benveniste R & Moley JF. Pheochromo-cytoma penetrance varies by RET mutation in MEN 2A. Surgery 2007 142 800-805. (doi:10.1016/j.surg.2007.09.013)
16. Frank-Raue K., Rybicki LA, Erlic Z, Schweizer H., Winter A, Milos I, Toledo S.P., Toledo RA, Tavares MR, Alevizaki M et al. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Human Mutation 2011 32 51-58. (doi:10.1002/humu.21385)
17. Yip L, Lee JE, Shapiro S.E., Waguespack SG, Sherman SI, Hoff AO, Gagel RF, Arens JF & Evans DB. Surgical management of hereditary pheochromocytoma. Journal of the American College of Surgeons 2004 198 525-534. (doi:10.1016/j.jamcollsurg.2003. 12.001)
18. Asari R, Scheuba C, Kaczirek K & Niederle B. Estimated risk of pheochromocytoma recurrence after adrenal-sparing surgery in patients with multiple endocrine neoplasia type 2A. Archives of Surgery 2006 141 1199-1205. (doi:10.1001/archsurg.141. 12.1199)
19. de Graaf J.S., Dullaart RP & Zwierstra RP. Complications after bilateral adrenalectomy for phaeochromocytoma in multiple endocrine neoplasia type 2 - a plea to conserve adrenal function. European Journal of Surgery 1999 165 843-846. (doi:10.1080/ 11024159950189320)