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Endocrine Pathology

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01.12.2013

Familial Isolated Pituitary Adenoma Caused by a Aip Gene Mutation not Described Before in a Family Context

verfasst von: J. A. García-Arnés, I. González-Molero, J. Oriola, N. Mazuecos, R. Luque, J. Castaño, M. A. Arraez

Erschienen in: Endocrine Pathology | Ausgabe 4/2013

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Abstract

The cause of familial isolated pituitary adenomas (FIPA) remains unknown in a high percentage of cases, but the AIP gene plays an important role in the etiology. The aim of the study is to describe a family with FIPA syndrome and the results of genomic studies. A 16-year-old man had a giant prolactinoma resistant to medical treatment with delayed growth and pubertal development. His mother had been previously diagnosed with a nonfunctioning pituitary macroadenoma. Transsphenoidal endoscopic resection was performed and a genetic study revealed a heterozygous mutation in exon 6: 974G > A (p.Arg325Gln). Because the AIP gene is a tumor suppressor gene, we searched for loss of heterozygosity within the AIP gene by amplifying exon 6 from tumor tissue of the patient. In the electropherogram, only the A allele was amplified (hemizygous state), indicating loss of the normal allele. We report a Spanish family with FIPA in whom a mutation in the AIP gene previously unreported in a familiar context was identified.

Beckers A. Higher prevalence of clinically relevant pituitary adenomas confirmed. Clin Endocrinol [Oxf] 72:290–1, 2010CrossRef

Vasilev V, Daly AF, Petrossians P, Zacharieva S, Beckers A. Familial pituitary tumor syndromes. Endocr Pract 17:41–6, 2011PubMedCrossRef

Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gundogdu S, De Menis E, Makinen MJ, Launonen V, Karhu A & Aaltonen LA. Pituitary adenoma predisposition caused by germ line mutations in the AIP gene. Science 312:1228–1230, 2006PubMedCrossRef

Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, Murat A, Emy P, Gimenez-Roqueplo AP, Tamburrano G, Raverot G, Barlier A, De Herder W, Penfornis A, Ciccarelli E, Estour B, Lecomte P, Gatta B, Chabre O, Sabate MI, Bertagna X, Garcia Basavilbaso N, Stalldecker G, Colao A, Ferolla P, Wemeau JL, Caron P, Sadoul JL, Oneto A, Archambeaud F, Calender A, Sinilnikova O, Montanana CF, Cavagnini F, Hana V, Solano A, Delettieres D, Luccio-Camelo DC, Basso A, Rohmer V, Brue T, Bours V, Teh BT & Beckers A .Aryl hydrocarbon receptor–interacting protein gene mutations infamilial isolated pituitary adenomas: analysis in 73 families. J. Clin. Endocrinol. Metab. 92: 1891–1896, 2007

Jennings, J., Georgitsi, M., Holdaway, I., Daly, A., Tichomirowa, M., Beckers, A., Aaltonen, L., Karhu, A., Cameron, F. Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germ line R271W mutation in the AIP gene. Eur. J. Endocrinol. 161: 799–804., 2009PubMedCrossRef

Georgitsi M, Helio¨vaara E, Paschke R, Kumar AV, Tischkowitz M, Vierimaa O, Salmela P, Sane T, De Menis E, Cannavo’ S, Gu¨ndogdu S, Lucassen A, Izatt L, Aylwin S, Bano G, Hodgson S, Koch CA, Karhu A & Aaltonen LA. Large genomic deletions in AIP in pituitary adenoma predisposition. J. Clin. Endocrinol. Metab. 93:4146–4151., 2008PubMedCrossRef

Igreja S, Chahal HS, Akker SA, Gueorguiev M, Popovic V, Damjanovic S, Wass JA, Quinton R, Grossman AB & Korbonits M . Characterization of aryl hydrocarbon receptor interacting protein [AIP] mutations in familial isolated pituitary adenoma families. Hum. Mutat. 31: 950–960, 2010PubMedCrossRef

Chahal H.S, Chapple J.P, Frohman L.A, Grossman A.B., Korbonits M .Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas. Trends Endocrinol. Metab. 21:419–2, 2010

Daly, A.F., Jaffrain-Rea, M.L., Ciccarelli, A., Valdes-Socin, H., Rohmer, V., Tamburrano,G., Borson-Chazot, C., Estour, B., Ciccarelli, E., Brue, T., Ferolla, P., Emy, P., Colao,A., De Menis, E., Lecomte, P., Penfornis, F., Delemer, B., Bertherat, J., Wemeau, J.L.,de Herder, W.W., Archambeaud, F., Stevenaert, A., Calender, A., Murat, A., Cavagnini, F., Beckers, A., 2006 Clinical characterization of familial isolated pituitary adenomas. J. Clin. Endocrinol. Metab. 91: 3316–3323,2006

10.

Korbonits M, Storr H, Kumar AV. Familial pituitary adenomas - who should be tested for AIP mutations? Clin Endocrinol [Oxf] 77:351–6,2012

11.

Beckers A, Daly AF. The clinical, pathological, and genetic features of familial isolated pituitary adenomas. Eur J Endocrinol 157:371–82,2007PubMedCrossRef

12.

Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC, Jordan S, Rowe J, Stolbrink M, Christian HC, Wray J, Bishop-Bailey D, Berney DM, Wass JA, Popovic V, Ribeiro-Oliveira A Jr, Gadelha MR, Monson JP, Akker SA, Davis JR, Clayton RN, Yoshimoto K, Iwata T, Matsuno A, Eguchi K, Musat M, Flanagan D, Peters G, Bolger GB, Chapple JP, Frohman LA, Grossman AB & Korbonits M .The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas. J. Clin. Endocrinol. Metab 93: 2390–2401, 2008PubMedCrossRef

13.

Trivellin G, Korbonits M .AIP and its interacting partners. J Endocrinol 210:137–55, 2011PubMedCrossRef

14.

Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain-Rea ML, Barlier A, Naves LA, Ebeling T, Karhu A, Raappana A, Cazabat L, De Menis E, Montañana CF, Raverot G, Weil RJ, Sane T, Maiter D, Neggers S, Yaneva M, Tabarin A, Verrua E, Eloranta E, Murat A, Vierimaa O, Salmela PI, Emy P, Toledo RA, Sabaté MI, Villa C, Popelier M, Salvatori R, Jennings J, Longás AF, Labarta Aizpún JI, Georgitsi M, Paschke R, Ronchi C, Valimaki M, Saloranta C, De Herder W, Cozzi R, Guitelman M, Magri F, Lagonigro MS, Halaby G, Corman V, Hagelstein MT, Vanbellinghen JF, Barra GB, Gimenez-Roqueplo AP, Cameron FJ, Borson-Chazot F, Holdaway I, Toledo SP, Stalla GK, Spada A, Zacharieva S, Bertherat J, Brue T, Bours V, Chanson P, Aaltonen LA, Beckers A. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab 95:373–83., 2010CrossRef

15.

Cazabat L, Bouligand J, Salenave S, Bernier M, Gaillard S, Parker F, Young J, Guiochon-Mantel A, Chanson P Germ line AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. J Clin Endocrinol Metab, 97: E663-70, 2012PubMedCrossRef

16.

Colao A, Loche S, Cappa M, Di Sarno A, Landi ML, Sarnacchiaro F, Facciolli G, Lombardi G. Prolactinomas in children and adolescents. Clinical presentation and long-term follow-up. J Clin Endocrinol Metab 83:2777–80,1998CrossRef

17.

Ansaneli Naves L, Jaffrain-Rea M, Cunha Vêncio SA, Zaneti Jacomini C, Casulari LA, Daly AF, Beckers A Aggressive prolactinoma in a child related to germ line mutation in the ARYL hydrocarbon receptor interacting protein [AIP] gene .Arquivos brasileiros de endocrinologia e metabologia 54:761–7, 2010CrossRef

18.

Xekouki P, Azevedo M, Stratakis CA. Anterior pituitary adenomas: inherited syndromes, novel genes, and molecular pathways. Expert Rev Endocrinol Metab 5:697–709, 2010PubMedCrossRef

Titel: Familial Isolated Pituitary Adenoma Caused by a Aip Gene Mutation not Described Before in a Family Context
verfasst von: J. A. García-Arnés
I. González-Molero
J. Oriola
N. Mazuecos
R. Luque
J. Castaño
M. A. Arraez
Publikationsdatum: 01.12.2013
Verlag: Springer US
Erschienen in: Endocrine Pathology / Ausgabe 4/2013
Print ISSN: 1046-3976
Elektronische ISSN: 1559-0097
DOI: https://doi.org/10.1007/s12022-013-9268-5

Springer Medizin

Familial Isolated Pituitary Adenoma Caused by a Aip Gene Mutation not Described Before in a Family Context

Abstract

Neu im Fachgebiet Pathologie

Molekularpathologische Untersuchungen im Wandel der Zeit

Vergleichende Pathologie in der onkologischen Forschung

Gastrointestinale Stromatumoren

Personalisierte Medizin in der Onkologie

Springer Medizin

Abstract

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