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Pituitary adenoma predisposition(PAP)

MedGen UID:
354959
•Concept ID:
C1863340
•
Finding
Synonym: PAP
 
OMIM®: 102200; 605555

Professional guidelines

PubMed

Overview of genetic testing in patients with pituitary adenomas.
Beckers A, Rostomyan L, Daly AF
Ann Endocrinol (Paris) 2012 Apr;73(2):62-4. Epub 2012 Apr 13 doi: 10.1016/j.ando.2012.03.028. PMID: 22503805

Recent clinical studies

Etiology

Phenotypic and genotypic features of a large kindred with a germline AIP variant.
Dal J, Nielsen EH, Klose M, Feldt-Rasmussen U, Andersen M, Vang S, Korbonits M, Jørgensen JOL
Clin Endocrinol (Oxf) 2020 Aug;93(2):146-153. Epub 2020 May 18 doi: 10.1111/cen.14207. PMID: 32324286
Cushing's disease: current medical therapies and molecular insights guiding future therapies.
Lau D, Rutledge C, Aghi MK
Neurosurg Focus 2015 Feb;38(2):E11. doi: 10.3171/2014.10.FOCUS14700. PMID: 25639313
Overview of genetic testing in patients with pituitary adenomas.
Beckers A, Rostomyan L, Daly AF
Ann Endocrinol (Paris) 2012 Apr;73(2):62-4. Epub 2012 Apr 13 doi: 10.1016/j.ando.2012.03.028. PMID: 22503805
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.
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
J Clin Endocrinol Metab 2010 Nov;95(11):E373-83. Epub 2010 Aug 4 doi: 10.1210/jc.2009-2556. PMID: 20685857
Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gündogdu S, De Menis E, Mäkinen MJ, Launonen V, Karhu A, Aaltonen LA
Science 2006 May 26;312(5777):1228-30. doi: 10.1126/science.1126100. PMID: 16728643

Diagnosis

Cushing's disease: current medical therapies and molecular insights guiding future therapies.
Lau D, Rutledge C, Aghi MK
Neurosurg Focus 2015 Feb;38(2):E11. doi: 10.3171/2014.10.FOCUS14700. PMID: 25639313
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.
Beckers A, Aaltonen LA, Daly AF, Karhu A
Endocr Rev 2013 Apr;34(2):239-77. Epub 2013 Jan 31 doi: 10.1210/er.2012-1013. PMID: 23371967Free PMC Article
Overview of genetic testing in patients with pituitary adenomas.
Beckers A, Rostomyan L, Daly AF
Ann Endocrinol (Paris) 2012 Apr;73(2):62-4. Epub 2012 Apr 13 doi: 10.1016/j.ando.2012.03.028. PMID: 22503805
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.
Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Mäkinen MJ, Vierimaa O, Paschke R, Saeger W, van der Luijt RB, Sane T, Robledo M, De Menis E, Weil RJ, Wasik A, Zielinski G, Lucewicz O, Lubinski J, Launonen V, Vahteristo P, Aaltonen LA
Proc Natl Acad Sci U S A 2007 Mar 6;104(10):4101-5. Epub 2007 Feb 28 doi: 10.1073/pnas.0700004104. PMID: 17360484Free PMC Article
Pituitary adenoma predisposition caused by germline mutations in the AIP gene.
Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TM, Salmela PI, Paschke R, Gündogdu S, De Menis E, Mäkinen MJ, Launonen V, Karhu A, Aaltonen LA
Science 2006 May 26;312(5777):1228-30. doi: 10.1126/science.1126100. PMID: 16728643

Therapy

Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child.
Dutta P, Reddy KS, Rai A, Madugundu AK, Solanki HS, Bhansali A, Radotra BD, Kumar N, Collier D, Iacovazzo D, Gupta P, Raja R, Gowda H, Pandey A, Devgun JS, Korbonits M
J Clin Endocrinol Metab 2019 Aug 1;104(8):3539-3544. doi: 10.1210/jc.2019-00432. PMID: 31125088Free PMC Article
Cushing's disease: current medical therapies and molecular insights guiding future therapies.
Lau D, Rutledge C, Aghi MK
Neurosurg Focus 2015 Feb;38(2):E11. doi: 10.3171/2014.10.FOCUS14700. PMID: 25639313
Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.
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
J Clin Endocrinol Metab 2010 Nov;95(11):E373-83. Epub 2010 Aug 4 doi: 10.1210/jc.2009-2556. PMID: 20685857

Prognosis

Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.
Beckers A, Aaltonen LA, Daly AF, Karhu A
Endocr Rev 2013 Apr;34(2):239-77. Epub 2013 Jan 31 doi: 10.1210/er.2012-1013. PMID: 23371967Free PMC Article
The molecular pathogenesis of corticotroph tumours.
Dworakowska D, Grossman AB
Eur J Clin Invest 2012 Jun;42(6):665-76. Epub 2011 Nov 19 doi: 10.1111/j.1365-2362.2011.02621.x. PMID: 22098190
No evidence of RET germline mutations in familial pituitary adenoma.
Heliövaara E, Tuupanen S, Ahlsten M, Hodgson S, de Menis E, Kuismin O, Izatt L, McKinlay Gardner RJ, Gundogdu S, Lucassen A, Arola J, Tuomisto A, Mäkinen M, Karhu A, Aaltonen LA
J Mol Endocrinol 2011 Feb;46(1):1-8. Epub 2010 Dec 21 doi: 10.1677/JME-10-0052. PMID: 20956458
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.
Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Mäkinen MJ, Vierimaa O, Paschke R, Saeger W, van der Luijt RB, Sane T, Robledo M, De Menis E, Weil RJ, Wasik A, Zielinski G, Lucewicz O, Lubinski J, Launonen V, Vahteristo P, Aaltonen LA
Proc Natl Acad Sci U S A 2007 Mar 6;104(10):4101-5. Epub 2007 Feb 28 doi: 10.1073/pnas.0700004104. PMID: 17360484Free PMC Article
Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma.
Toledo RA, Lourenço DM Jr, Liberman B, Cunha-Neto MB, Cavalcanti MG, Moyses CB, Toledo SP, Dahia PL
J Clin Endocrinol Metab 2007 May;92(5):1934-7. Epub 2007 Mar 6 doi: 10.1210/jc.2006-2394. PMID: 17341560

Clinical prediction guides

Phenotypic and genotypic features of a large kindred with a germline AIP variant.
Dal J, Nielsen EH, Klose M, Feldt-Rasmussen U, Andersen M, Vang S, Korbonits M, Jørgensen JOL
Clin Endocrinol (Oxf) 2020 Aug;93(2):146-153. Epub 2020 May 18 doi: 10.1111/cen.14207. PMID: 32324286
Cushing's disease: current medical therapies and molecular insights guiding future therapies.
Lau D, Rutledge C, Aghi MK
Neurosurg Focus 2015 Feb;38(2):E11. doi: 10.3171/2014.10.FOCUS14700. PMID: 25639313
Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene.
Beckers A, Aaltonen LA, Daly AF, Karhu A
Endocr Rev 2013 Apr;34(2):239-77. Epub 2013 Jan 31 doi: 10.1210/er.2012-1013. PMID: 23371967Free PMC Article
The molecular pathogenesis of corticotroph tumours.
Dworakowska D, Grossman AB
Eur J Clin Invest 2012 Jun;42(6):665-76. Epub 2011 Nov 19 doi: 10.1111/j.1365-2362.2011.02621.x. PMID: 22098190
Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.
Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Mäkinen MJ, Vierimaa O, Paschke R, Saeger W, van der Luijt RB, Sane T, Robledo M, De Menis E, Weil RJ, Wasik A, Zielinski G, Lucewicz O, Lubinski J, Launonen V, Vahteristo P, Aaltonen LA
Proc Natl Acad Sci U S A 2007 Mar 6;104(10):4101-5. Epub 2007 Feb 28 doi: 10.1073/pnas.0700004104. PMID: 17360484Free PMC Article

Recent systematic reviews

Cushing's disease: current medical therapies and molecular insights guiding future therapies.
Lau D, Rutledge C, Aghi MK
Neurosurg Focus 2015 Feb;38(2):E11. doi: 10.3171/2014.10.FOCUS14700. PMID: 25639313

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