publication . Doctoral thesis . 2008

Multiple Endocrine Neoplasia Type 1 (MEN1) and Pituitary Adenoma Predisposition (PAP) in Northern Finland

Vierimaa, O. (Outi);
Open Access English
  • Published: 17 Jun 2008
  • Publisher: University of Oulu
  • Country: Finland
Abstract Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome characterized by parathyroid, gastroenteropancreatic and pituitary neuroendocrine tumours. In Northern Finland, two founder mutations of the MEN1 gene (1466del12, 1657insC) accounting for the majority of the MEN1 cases, have common ancestors born in the 18th and 19th centuries, respectively. Three small clusters of familial pituitary adenoma have also been detected, two of which could be linked by genealogy to a common ancestral couple born in the 18th century. Clinical evaluation of 82 MEN1 mutation carriers showed that age was a risk factor for most of the MEN1-related manifestations....
free text keywords: genetic predisposition, multiple endocrine neoplasia type 1, pituitary adenoma, primary hyperparathyroidism
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76 references, page 1 of 6

e fun en irc re rc aw rce .ltre1eepobdpR .)1EN tydu .s198non7eltae .s1989nealtae .r1996pumltae .rss199egu8ltae .try9198altae .rx9198altae .r1999neeltae .0200naeltae iil.rc2001eltae .0201ppoltae .rs200eg2èltae t.-yvobhoé2004Bltea e.sc2n0eha07ltae i;t,,rsaonagonnFNmiitttfrypeuhoenaadOii(rrcneudoonaendoC iitrrcsuodnouaeCwmliirrccycbnoohhaaTmlittyspopduuheanoT litrxcenpeanaaepem aT (M S B V T B C M G D C K V L M Ga b c d e m Cetani F, Pardi E, Borsari S, Viacava P, Dipollina G, Cianferotti L, Ambrogini E, Gazzerro E, Colussi G, Berti P, Miccoli P, Pinchera A & Marcocci C (2004) Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. J Clin Endocrinol Metab 89: 5583-5591.

Cetani F, Pardi E, Ambrogini E, Lemmi M, Borsari S, Cianferotti L, Vignali E, Viacava P, Berti P, Mariotti S, Pinchera A & Marcocci C (2006) Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management. Clin Endocrinol (Oxf) 64: 146-152. [OpenAIRE]

Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL & Marx SJ (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276: 404-407. [OpenAIRE]

Chandrasekharappa SC & Teh BT (2003) Functional studies of the MEN1 gene. J Intern Med 253: 606-615. [OpenAIRE]

Chen F, Kishida T, Yao M, Hustad T, Glavac D, Dean M, Gnarra JR, Orcutt ML, Duh FM & Glenn G (1995) Germline mutations in the von Hippel-Lindau disease tumor suppressor gene: correlations with phenotype. Hum Mutat 5: 66-75.

Christopoulos C, Antoniou N, Thempeyioti A, Calender A & Economopoulos P (2005) Familial multiple endocrine neoplasia type I: the urologist is first on the scene. BJU Int 96: 884-887. [OpenAIRE]

Clerici T, Schmid C, Komminoth P, Lange J, Spinas GA & Brandle M (2001) 10 Swiss kindreds with multiple endocrine neoplasia type 1: assessment of screening methods. Swiss Med Wkly 131: 381-386.

Colao A, Ferone D, Marzullo P & Lombardi G (2004) Systemic complications of acromegaly: epidemiology, pathogenesis, and management. Endocr Rev 25: 102-152. [OpenAIRE]

Corbetta S, Pizzocaro A, Peracchi M, Beck-Peccoz P, Faglia G & Spada A (1997) Multiple endocrine neoplasia type 1 in patients with recognized pituitary tumours of different types. Clin Endocrinol (Oxf) 47: 507-512. [OpenAIRE]

Crossey PA, Richards FM, Foster K, Green JS, Prowse A, Latif F, Lerman MI, Zbar B, Affara NA & Ferguson-Smith MA (1994) Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet 3: 1303-1308.

Cryer PE, Kissane J, Eds. (1974) Fasting hypoglycemia, hypercalcemia and hyperprolactinemia. Multiple Endocrine Neoplasia, Type I ? (Clinicopathologic Conference). Am J Med 57:611-619.

Cupisti K, Höppner W, Dotzenrath C, Simon D, Berndt I, Röher HD & Goretzki PE (2000) Lack of MEN1 gene mutations in 27 sporadic insulinomas. Eur J Clin Invest 30: 325- 329.

Dackiw AP, Cote GJ, Fleming JB, Schultz PN, Stanford P, Vassilopoulou-Sellin R, Evans DB, Gagel RF & Lee JE (1999) Screening for MEN1 mutations in patients with atypical endocrine neoplasia. Surgery 126: 1097-103; discussion 1103-4.

Daly AF, Jaffrain-Rea ML, 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 JL, De Herder 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. [OpenAIRE]

Daneshdoost L, Gennarelli TA, Bashey HM, Savino PJ, Sergott RC, Bosley TM & Snyder PJ (1993) Identification of gonadotroph adenomas in men with clinically nonfunctioning adenomas by the luteinizing hormone beta subunit response to thyrotropin-releasing hormone. J Clin Endocrinol Metab 77: 1352-1355. [OpenAIRE]

76 references, page 1 of 6
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