Multiple endocrine neoplasia type 2 syndromes (MEN 2): Results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes

European Journal of Endocrinology

Volumn 163, Issue 2, 2010, Pages 301-308

  Romei, Cristina ^a   Mariotti, Stefano ^b   Fugazzola, Laura ^c   Taccaliti, Augusto ^d   Pacini, Furio ^e   Opocher, Giuseppe ^f   Mian, Caterina ^f   Castellano, Maurizio ^g   Uberti, Ettore Degli ^h   Ceccherini, Isabella ⁱ   Cremonini, Nadia ^j   Seregni, Ettore ^k   Orlandi, Fabio ^l   Ferolla, Piero ^m   Puxeddu, Efisio ^m   Giorgino, Francesco ⁿ   Colao, Annamaria ^o   Loli, Paola ^p   Bondi, Fabio ^q   Cosci, Barbara ^a   Bottici, Valeria ^a   Cappai, Antonello ^b   Pinna, Giovanni ^b   Persani, Luca ^c   Uberta, Verga ^c   Boscaro, Marco ^d   Castagna, Maria Grazia ^e   Cappelli, Carlo ^g   Zatelli, Maria Chiara ^h   Faggiano, Antongiulio ^o   Francia, Giuseppe ^r   Brandi, Maria Luisa ^s   Falchetti, Alberto ^s   Pinchera, Aldo ^a   Elisei, Rossella ^a   more..

^a UNIVERSITY OF PISA   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

^d UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^e UNIVERSITY OF SIENA   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

^g UNIVERSITY OF BRESCIA   (Italy)

^h UNIVERSITY OF FERRARA   (Italy)

ⁱ G GASLINI INSTITUTE   (Italy)

^j MAGGIORE HOSPITAL   (Italy)

^k NATIONAL CANCER INSTITUTE   (Italy)

^l UNIVERSITY OF TURIN   (Italy)

^m UNIVERSITY OF PERUGIA   (Italy)

ⁿ UNIVERSITY OF BARI   (Italy)

^o UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^p AO Niguarda Ca' Granda   (Italy)

^q Hospital of Ravenna   (Italy)

^r Verona Hospital   (Italy)

^s UNIVERSITY OF FLORENCE   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; PROTEIN RET;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLINICAL ARTICLE; CODON; FAMILIAL CANCER; FAMILY; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; HUMAN; MULTIPLE ENDOCRINE NEOPLASIA; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2 SYNDROME; PEDIGREE; PREVALENCE; PRIORITY JOURNAL; SCHOOL CHILD; THYROID MEDULLARY CARCINOMA;

CHI-SQUARE DISTRIBUTION; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC TESTING; GENOTYPE; GERM-LINE MUTATION; HUMANS; ITALY; MALE; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B; PEDIGREE; PHENOTYPE; PROTO-ONCOGENE PROTEINS C-RET;

EID: 77955364851     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-10-0333     Document Type: Article

References (43)

1. Kwok JB, Gardner E, Warner JP, Ponder BA & Mulligan LM. Structural analysis of the human RET proto-oncogene using exon trapping. Oncogene 1993 8 2575-2582. (Pubitemid 23252389)
2. Machens A, Lorenz K & Dralle H. Constitutive RET tyrosine kinase activation in hereditary medullary thyroid cancer: clinical opportunities. Journal of Internal Medicine 2009 266 114-125.
3. Santoro M, Rosati R, Grieco M, Berlingieri MT, D'Amato GL, de Franciscis V & Fusco A. The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. Oncogene 1990 5 1595-1598.
4. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P & Wells SA Jr. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Human Molecular Genetics 1993 2 851-856. (Pubitemid 23216611)
5. Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, Ponder MA, Telenius H, Tunnacliffe A & Ponder BAJ. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993 363 458-460. (Pubitemid 23179393)
6. Eng C, Smith DP, Mulligan LM, Nagai MA, Healey CS, Ponder MA, Gardner E, Scheumann GF, Jackson CE, Tunnacliffe A & Ponder BAJ. Point mutation within the tyrosine kinase domain of the RET protooncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Human Molecular Genetics 1994 3 237-241.
7. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr & Marx SJ. Guidelines for diagnosis and therapy of MEN type 1 and type 2. Journal of Clinical Endocrinology and Metabolism 2001 86 5658-5671.
8. Williams ED & Pollock DJ. Multiple mucosal neuromata with endocrine tumours: a syndrome allied to von Recklinghausen's disease. Journal of Pathology and Bacteriology 1966 91 71-80.
9. Carney JA, Go VL, Sizemore GW & Hayles AB. Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2B. New England Journal of Medicine 1976 295 1287-1291.
10. Nunziata V, Giannattasio R, Di Giovanni G, D'Armiento MR & Mancini M. Hereditary localized pruritus in affected members of a kindred with multiple endocrine neoplasia type 2A (Sipple's syndrome). Clinical Endocrinology 1989 30 57-63. (Pubitemid 19052697)
11. Gagel RF, Levy ML, Donovan DT, Alford BR, Wheeler T & Tschen JA. Multiple endocrine neoplasia type 2A associated with cutaneous lichen amyloidosis. Annals of Internal Medicine 1989 111 802-806. (Pubitemid 19283916)
12. Decker RA & Peacock ML. Occurrence of MEN 2A in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene. Journal of Pediatric Surgery 1998 33 207-214.
13. Pakarinen MP, Rintala RJ, Koivusalo A, Heikkinen M, Lindahl H & Pukkala E. Increased incidence of medullary thyroid carcinoma in patients treated for Hirschsprung's disease. Journal of Pediatric Surgery 2005 40 1532-1534.
14. Keiser HR, Beaven MA, Doppman J, Wells S Jr & Buja LM. Sipple's syndrome: medullary thyroid carcinoma, pheochromocytoma, and parathyroid disease. Studies in a large family. NIH conference. Annals of Internal Medicine 1973 78 561-579.
15. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjold M, Komminoth P, Hendy GN, Gharib H, Thibodeau S, Lacroix A, Frilling A, Ponder BAJ & Mulligan LM. The relationship between specific RET protooncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. Journal of the American Medical Association 1996 276 1575-1579.
16. Niccoli-Sire P, Murat A, Rohmer V, Franc S, Chabrier G, Baldet L, Maes B, Savagner F, Giraud S, Bezieau S, Kottler ML, Morange S & Conte-Devolx B. Familial medullary thyroid carcinoma with noncysteine ret mutations: phenotype-genotype relationship in a large series of patients. Journal of Clinical Endocrinology and Metabolism 2001 86 3746-3753.
17. Jimenez C, Dang GT, Schultz PN, El-Naggar A, Shapiro S, Barnes EA, Evans DB, Vassilopoulou-Sellin R, Gagel RF, Cote GJ & Hoff AO. A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. Journal of Clinical Endocrinology and Metabolism 2004 89 3521-3526.
18. Elisei R, Romei C, Cosci B, Agate L, Bottici V, Molinaro E, Sculli M, Miccoli P, Basolo F, Grasso L, Pacini F & Pinchera A. RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. Journal of Clinical Endocrinology and Metabolism 2007 92 4725-4729.
19. Erdogan MF, Gursoy A, Ozgen G, Cakir M, Bayram F, Ersoy R, Algun E, Cetinarslan B, Comlekci A, Kadioglu P, Balci MK, Yetkin I, Kabalak T & Erdogan G. RET proto-oncogene mutations in apparently sporadic Turkish medullary thyroid carcinoma patients: Turkmen study. Journal of Endocrinological Investigation 2005 28 806-809. (Pubitemid 43162835)
20. Eng C, Mulligan LM, Smith DP, Healey CS, Frilling A, Raue F, Neumann HP, Ponder MA & Ponder BA. Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clinical Endocrinology 1995 43 123-127.
21. Pinna G, Orgiana G, Riola A, Ghiani M, Lai ML, Carcassi C & Mariotti S. RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype. Thyroid 2007 17 101-104.
22. Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, Raue F, Ritter MM & Hoppner W. A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. Journal of Clinical Endocrinology and Metabolism 1998 83 770-774.
23. Machens A & Dralle H. Familial prevalence and age of RET germline mutations: implications for screening. Clinical Endocrinology 2008 69 81-87. (Pubitemid 351847265)
24. Machens A, Niccoli-Sire P, Hoegel J, Frank-Raue K, van Vroonhoven TJ, Roeher HD, Wahl RA, Lamesch P, Raue F, Conte-Devolx B & Dralle H. Early malignant progression of hereditary medullary thyroid cancer. New England Journal of Medicine 2003 349 1517-1525.
25. Frank-Raue K, Hoppner W, Frilling A, Kotzerke J, Dralle H, Haase R, Mann K, Seif F, Kirchner R, Rendl J, Deckart HF, Ritter MM, Hampel R, Klempa J, Scholz GH & Raue F. Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group. Journal of Clinical Endocrinology and Metabolism 1996 81 1780-1783.
26. Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD, Schlumberger M & Wells SA Jr. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 2009 19 565-612.
27. Contu D, Morelli L, Zavattari P, Lampis R, Angius E, Frongia P, Murru D, Maioli M, Francalacci P, Todd JA & Cucca F. Sex-related bias and exclusion mapping of the nonrecombinant portion of chromosome Y in human type 1 diabetes in the isolated founder population of Sardinia. Diabetes 2002 51 3573-3576.
28. Francalacci P, Morelli L, Underhill PA, Lillie AS, Passarino G, Useli A, Madeddu R, Paoli G, Tofanelli S, Calo CM, Ghiani ME, Varesi L, Memmi M, Vona G, Lin AA, Oefner P & Cavalli-Sforza LL. Peopling of three Mediterranean islands (Corsica, Sardinia, and Sicily) inferred by Y-chromosome biallelic variability. American Journal of Physical Anthropology 2003 121 270-279.
29. Marrosu MG, Lai M, Cocco E, Loi V, Spinicci G, Pischedda MP, Massole S, Marrosu G & Contu P. Genetic factors and the founder effect explain familial MS in Sardinia. Neurology 2002 58 283-288. (Pubitemid 34084221)
30. Nguyen L, Niccoli-Sire P, Caron P, Bastie D, Maes B, Chabrier G, Chabre O, Rohmer V, Lecomte P, Henry JF & Conte-Devolx B. Pheochromocytoma in multiple endocrine neoplasia type 2: a prospective study. European Journal of Endocrinology 200114437-44.
31. Machens A & Dralle H. Multiple endocrine neoplasia type 2 and the RET protooncogene: from bedside to bench to bedside. Molecular and Cellular Endocrinology 2006 247 34-40.
32. Bugalho MJ, Domingues R, Santos JR, Catarino AL & Sobrinho L. Mutation analysis of the RET proto-oncogene and early thyroidectomy: results of a Portuguese cancer centre. Surgery 2007 141 90-95.
33. Kouvaraki MA, Shapiro SE, Perrier ND, Cote GJ, Gagel RF, Hoff AO, Sherman SI, Lee JE & Evans DB. RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid 2005 15 531-544.
34. Recasens M, Oriola J, Fernandez-Real JM, Roig J, Rodriguez- Hermosa JI, Font JA, Galofre P, Lopez-Bermejo A & Ricart W. Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene. Clinical Endocrinology 2007 67 29-33.
35. Carlomagno F, Guida T, Anaganti S, Vecchio G, Fusco A, Ryan AJ, Billaud M & Santoro M. Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors. Oncogene 2004 23 6056-6063.
36. Sherman SI. Advances in chemotherapy of differentiated epithelial and medullary thyroid cancers. Journal of Clinical Endocrinology and Metabolism 2009 94 1493-1499.
37. Giacchè MPA, Tosini R, Mori L, Orsini A, Cherubini L, Cappelli C, Gandossi E, Pirola I, De martino E, Agabiti Rosei E & Castellano M, Evidence of a founder effect in thirteen families with medullary thyroid cancer carrying RET Ser891Ala mutation Journal of Endocrinological Investigation 2009 32 Supplement, 71.
38. Elisei R, Cosci B, Romei C, Agate L, Piampiani P, Miccoli P, Berti P, Basolo F, Ugolini C, Ciampi R, Nikiforov Y & Pinchera A. Identification of a novel point mutation in the RET gene (Ala883Thr), which is associated with medullary thyroid carcinoma phenotype only in homozygous condition. Journal of Clinical Endocrinology and Metabolism 2004 89 5823-5827.
39. Fazioli F, Piccinini G, Appolloni G, Bacchiocchi R, Palmonella G, Recchioni R, Pierpaoli E, Silvetti F, Scarpelli M, Bruglia M, Melillo RM, Santoro M, Boscaro M & Taccaliti A. A new germline point mutation in RET exon 8 (cys515ser) in a family with medullary thyroid carcinoma. Thyroid 2008 18 775-782.
40. Orgiana G, Pinna G, Camedda A, De Falco V, Santoro M, Melillo RM, Elisei R, Romei C, Lai S, Carcassi C & Mariotti S. A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure. Journal of Clinical Endocrinology and Metabolism 2004 89 4810-4816. (Pubitemid 39391411)
41. Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, Harsch I, Schott M, Gabbert HE, Valimaki M, Preuss SF, Hasse-Lazar K, Waligorski D, Robledo M, Januszewicz A, Eng C & Neumann HP. Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. Journal of Clinical Endocrinology and Metabolism 2009 95 308-313.
42. Fernandez RM, Sanchez-Mejias A, Navarro E, Lopez-Alonso M, Antinolo G & Borrego S. The RET functional variant c 587T> C is not associated with susceptibility to sporadic medullary thyroid cancer. Thyroid 2009 19 1017-1018.
43. Wiench M, Wygoda Z, Gubala E, Wloch J, Lisowska K, Krassowski J, Scieglinska D, Fiszer-Kierzkowska A, Lange D, Kula D, Zeman M, Roskosz J, Kukulska A, Krawczyk Z & Jarzab B. Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients. Journal of Clinical Oncology 2001 19 1374-1380.