Genetic analysis in young patients with sporadic pituitary macroadenomas: Besides AIP don't forget MEN1 genetic analysis

European Journal of Endocrinology

Volumn 168, Issue 4, 2013, Pages 533-541

  Cuny, Thomas ^a,s   Pertuit, Morgane ^b   Sahnoun Fathallah, Mona ^c   Daly, Adrian ^d   Occhi, Gianluca ^e   Odou, Marie Françoise ^f   Tabarin, Antoine ^g   Nunes, Marie Laure ^g   Delemer, Brigitte ^h   Rohmer, Vincent ⁱ   Desailloud, Rachel ^j   Kerlan, Véronique ^k   Chabre, Olivier ^l   Sadoul, Jean Louis ^m   Cogne, Muriel ⁿ   Caron, Philippe ^o   Cortet Rudelli, Christine ^f   Lienhardt, Anne ^p   Raingeard, Isabelle ^q   Guedj, Anne Marie ^r   Brue, Thierry ^c   Beckers, Albert ^d   Weryha, Georges ^a   Enjalbert, Alain ^b,s   Barlier, Anne ^b,s   more..

^a CHU NANCY BRABOIS   (France)

^b University Hospital of Marseille   (France)

^c University Hospital of Marseille   (France)

^d UNIVERSITY OF LIÈGE   (Belgium)

^e UNIVERSITY OF PADOVA   (Italy)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g BORDEAUX UNIVERSITY HOSPITAL   (France)

^h REIMS UNIVERSITY HOSPITAL   (France)

ⁱ ANGERS UNIVERSITY HOSPITAL   (France)

^j AMIENS UNIVERSITY HOSPITAL   (France)

^k BREST UNIVERSITY HOSPITAL   (France)

^l GRENOBLE UNIVERSITY HOSPITAL   (France)

^m CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

ⁿ University Hospital of Reunion Island   (France)

^o SERVICE DE PNEUMOLOGIE   (France)

^p LIMOGES UNIVERSITY HOSPITAL   (France)

^q LAPEYRONIE HOSPITAL   (France)

^r NÎMES UNIVERSITY HOSPITAL   (France)

^s AIX MARSEILLE UNIVERSITY   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARYL HYDROCARBON RECEPTOR INTERACTING PROTEIN; UNCLASSIFIED DRUG;

ACTH SECRETING ADENOMA; ADULT; AIP GENE; ARTICLE; COHORT ANALYSIS; FEMALE; FRANCE; GENE; GENE DELETION; GENE SEQUENCE; GENETIC ANALYSIS; GIGANTISM; GROWTH HORMONE SECRETING ADENOMA; HUMAN; HYPERCALCEMIA; HYPOPHYSIS ADENOMA; MAJOR CLINICAL STUDY; MALE; MEN1 GENE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PREVALENCE; PRIORITY JOURNAL; PROLACTINOMA; PROSPECTIVE STUDY; THYROTROPIN SECRETING ADENOMA; UNIVERSITY HOSPITAL;

ADENOMA; ADOLESCENT; ADULT; CHILD; COHORT STUDIES; FEMALE; GENETIC LINKAGE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; PITUITARY NEOPLASMS; PROTO-ONCOGENE PROTEINS; YOUNG ADULT;

EID: 84875160153     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-12-0763     Document Type: Article

References (37)

1. Scheithauer BW, Laws ER Jr, Kovacs K, Horvath E, Randall RV & Carney JA. Pituitary adenomas of the multiple endocrine neoplasia type I syndrome. Seminars in Diagnostic Pathology 1987 4 205-211.
2. Daly AF, Jaffrain-Rea ML, Ciccarelli A, Valdes-Socin H, Rohmer V, Tamburrano G, Borson-Chazot C, Estour B, Ciccarelli E, Brue T et al. Clinical characterization of familial isolated pituitary adenomas. Journal of Clinical Endocrinology and Metabolism 2006 91 3316-3323. (doi:10.1210/jc.2005-2671)
3. Beckers A & Daly AF. The clinical, pathological, and genetic features of familial isolated pituitary adenomas. European Journal of Endocrinology 2007 157 371-382. (doi:10.1530/EJE-07-0348)
4. Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 2006 312 1228-1230. (doi:10.1126/science.1126100)
5. Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G et al. Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. Journal of Clinical Endocrinology and Metabolism 2007 92 1891-1896. (doi:10.1210/jc.2006-2513)
6. Barlier A, Vanbellinghen JF, Daly AF, Silvy M, Jaffrain-Rea ML, Trouillas J, Tamagno G, Cazabat L, Bours V, Brue T et al. Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. Journal of Clinical Endocrinology and Metabolism 2007 92 1952-1955. (doi:10.1210/jc.2006-2702)
7. Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A & Chanson P. Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. Journal of Clinical Endocrinology and Metabolism 2012 97 E663-E670. (doi:10.1210/jc.2011-2291)
8. Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Makinen MJ, Vierimaa O, Paschke R, Saeger W, van der Luijt RB, Sane T et al. Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. PNAS 2007 104 4101-4105. (doi:10.1073/pnas.0700004104)
9. Yu R, Bonert V, Saporta I, Raffel LJ & Melmed S. Aryl hydrocarbon receptor interacting protein variants in sporadic pituitary adenomas. Journal of Clinical Endocrinology and Metabolism 2006 91 5126-5129. (doi:10.1210/jc.2006- 1731)
10. Daly AF, Tichomirowa MA, Petrossians P, Heliovaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A et al. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. Journal of Clinical Endocrinology and Metabolism 2010 95 E373-E383. (doi:10.1210/jc. 2009-2556)
11. Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, Urban JD, Petrossians P, Elenkova A, Tabarin A et al. High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. European Journal of Endocrinology 2011 165 509-515. (doi:10.1530/EJE-11-0304)
12. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, 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)
13. Verges B, Boureille F, Goudet P, Murat A, Beckers A, Sassolas G, Cougard P, Chambe B, Montvernay C & Calender A. Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. Journal of Clinical Endocrinology and Metabolism 2002 87 457-465. (doi:10.1210/jc.87.2.457)
14. Syro LV, Scheithauer BW, Kovacs K, Toledo RA, Londono FJ, Ortiz LD, Rotondo F, Horvath E & Uribe H. Pituitary tumors in patients with MEN1 syndrome. Clinics 2012 67 (Suppl 1) 43-48. (doi:10.6061/clinics/2012(Sup01)09)
15. Frederic MY, Lalande M, Boileau C, Hamroun D, Claustres M, Beroud C & Collod-Beroud G. UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity - application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Human Mutation 2009 30 952-959. (doi:10.1002/humu.20970)
16. Occhi G, Jaffrain-Rea ML, Trivellin G, Albiger N, Ceccato F, De Menis E, Angelini M, Ferasin S, Beckers A, Mantero F et al. The R304X mutation of the aryl hydrocarbon receptor interacting protein gene in familial isolated pituitary adenomas: mutational hot-spot or founder effect? Journal of Endocrinological Investigation 2010 33 800-805.
17. Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC, Jordan S, Rowe J et al. The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. Journal of Clinical Endocrinology and Metabolism 2008 93 2390-2401. (doi:10.1210/jc.2007-2611)
18. Trivellin G & Korbonits M. AIP and its interacting partners. Journal of Endocrinology 2011 210 137-155. (doi:10.1530/JOE-11-0054)
19. Roijers JF, de Wit MJ, van der Luijt RB, Ploos van Amstel HK, Hoppener JW & Lips CJ. Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding. European Journal of Clinical Investigation 2000 30 487-492. (doi:10.1046/j.1365-2362.2000.00664.x)
20. Crepin M, Escande F, Pigny P, Buisine MP, Calender A, Porchet N, Odou MF & Groupe d'Etude des Neoplasies Endocriniennes Multiples L. Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis. Electrophoresis 2003 24 26-33. (doi:10.1002/elps.200390023)
21. Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF et al. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clinical Genetics 2010 78 457-463. (doi:10.1111/j.1399-0004.2010.01406.x)
22. Owens M, Ellard S & Vaidya B. Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1. Clinical Endocrinology 2008 68 350-354. (doi:10.1111/j.1365-2265.2007.03045.x)
23. Trouillas J, Labat-Moleur F, Sturm N, Kujas M, Heymann MF, Figarella-Branger D, Patey M, Mazucca M, Decullier E, Verges B et al. Pituitary tumors and hyperplasia in multiple endocrine neoplasia type 1 syndrome (MEN1): a case-control study in a series of 77 patients versus 2509 non-MEN1 patients. American Journal of Surgical Pathology 2008 32 534-543. (doi:10.1097/PAS. 0b013e31815ade45)
24. Thakker RV, Newey PJ,Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F & Brandi ML. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). Journal of Clinical Endocrinology and Metabolism 2012 97 2990-3011. (doi:10.1210/jc.2012-1230)
25. Cazabat L, Libe R, Perlemoine K, Rene-Corail F, Burnichon N,Gimenez-Roqueplo AP, Dupasquier-Fediaevsky L, Bertagna X, Clauser E, Chanson P et al. Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas. European Journal of Endocrinology 2007 157 1-8. (doi:10.1530/EJE-07-0181)
26. DiGiovanni R, Serra S, Ezzat S & Asa SL. AIP mutations are not identified in patients with sporadic pituitary adenomas. Endocrine Pathology 2007 18 76-78. (doi:10.1007/s12022-007-0010-z)
27. Cazabat L, Bouligand J & Chanson P. AIP mutation in pituitary adenomas. New England Journal of Medicine 2011 364 1973-1974 (author reply 1974-1975). (doi:10.1056/NEJMc1101859)
28. Georgitsi M, De Menis E, Cannavo S, Makinen MJ, Tuppurainen K, Pauletto P, Curto L, Weil RJ, Paschke R, Zielinski G et al. Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas. Clinical Endocrinology 2008 69 621-627. (doi:10.1111/j.1365-2265.2008.03266.x)
29. Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K et al. Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Human Mutation 2010 31 950-960. (doi:10.1002/humu. 21292)
30. Georgitsi M, Heliovaara E, Paschke R, Kumar AV, Tischkowitz M, Vierimaa O, Salmela P, Sane T, De Menis E, Cannavo S et al. Large genomic deletions in AIP in pituitary adenoma predisposition. Journal of Clinical Endocrinology and Metabolism 2008 93 4146-4151. (doi:10.1210/jc.2008-1003)
31. Bassett JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, Wooding C, Harding B, Besser GM, Edwards CR, Monson JP et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. American Journal of Human Genetics 1998 62 232-244. (doi:10.1086/301729)
32. Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Human Mutation 2008 29 1282-1291. (doi:10.1002/humu.20880)
33. Occhi G, Trivellin G, Ceccato F, De Lazzari P, Giorgi G, Dematte S, Grimaldi F, Castello R, Davi MV, Arnaldi G et al. Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia. European Journal of Endocrinology 2010 163 369-376. (doi:10.1530/EJE-10-0327)
34. Jaffrain-Rea ML, Daly AF, Angelini M, Petrossians P, Bours V & Beckers A. Genetic susceptibility in pituitary adenomas: from pathogenesis to clinical implications. Expert Reviewof Endocrinology & Metabolism 2011 6 195-214. (doi:10.1586/eem.10.87)
35. Korbonits M, Storr H & Kumar AV. Familial pituitary adenomas - who should be tested for AIP mutations? Clinical Endocrinology 2012 77 351-356. (doi:10.1111/j.1365-2265.2012.04445.x)
36. Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC, Doppman JL, Kim YS, Lubensky IA, Zhuang Z et al. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Human Molecular Genetics 1997 6 1169-1175. (doi:10.1093/hmg/6.7.1169)
37. Wautot V, Vercherat C, Lespinasse J, Chambe B, Lenoir GM, Zhang CX, Porchet N, Cordier M, Beroud C & Calender A. Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. Human Mutation 2002 20 35-47. (doi:10.1002/humu.10092)