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Isolated Familial Somatotropinoma(FIS; IFS)

MedGen UID:
483583
•Concept ID:
C3489630
•
Neoplastic Process
Synonyms: Somatotrophinoma, Familial; Somatotropinoma, Familial Isolated
 
OMIM®: 102200

Professional guidelines

PubMed

Acromegaly: pathogenesis, diagnosis, and management.
Fleseriu M, Langlois F, Lim DST, Varlamov EV, Melmed S
Lancet Diabetes Endocrinol 2022 Nov;10(11):804-826. Epub 2022 Oct 6 doi: 10.1016/S2213-8587(22)00244-3. PMID: 36209758
Diagnosis and Treatment of Acromegaly: An Update.
Ershadinia N, Tritos NA
Mayo Clin Proc 2022 Feb;97(2):333-346. doi: 10.1016/j.mayocp.2021.11.007. PMID: 35120696
Diagnosis and Treatment of Pituitary Adenomas: A Review.
Molitch ME
JAMA 2017 Feb 7;317(5):516-524. doi: 10.1001/jama.2016.19699. PMID: 28170483

Recent clinical studies

Etiology

Clinical characterization of familial isolated pituitary adenomas.
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, Wémeau JL, De Herder W, Archambeaud F, Stevenaert A, Calender A, Murat A, Cavagnini F, Beckers A
J Clin Endocrinol Metab 2006 Sep;91(9):3316-23. Epub 2006 Jun 20 doi: 10.1210/jc.2005-2671. PMID: 16787992

Diagnosis

Pathogenesis of familial acromegaly.
Gadelha MR, Frohman LA
Front Horm Res 2010;38:121-126. Epub 2010 Jul 5 doi: 10.1159/000318501. PMID: 20616502
Genome-wide scan identifies novel modifier loci of acromegalic phenotypes for isolated familial somatotropinoma.
Khoo SK, Pendek R, Nickolov R, Luccio-Camelo DC, Newton TL, Massie A, Petillo D, Menon J, Cameron D, Teh BT, Chan SP
Endocr Relat Cancer 2009 Sep;16(3):1057-63. Epub 2009 May 14 doi: 10.1677/ERC-08-0287. PMID: 19443539
The clinical, pathological, and genetic features of familial isolated pituitary adenomas.
Beckers A, Daly AF
Eur J Endocrinol 2007 Oct;157(4):371-82. doi: 10.1530/EJE-07-0348. PMID: 17893250
An overview of the epidemiology and genetics of acromegaly.
Daly AF, Petrossians P, Beckers A
J Endocrinol Invest 2005;28(11 Suppl International):67-9. PMID: 16625848
A meiotic recombination in a new isolated familial somatotropinoma kindred.
Luccio-Camelo DC, Une KN, Ferreira RE, Khoo SK, Nickolov R, Bronstein MD, Vaisman M, Teh BT, Frohman LA, Mendonça BB, Gadelha MR
Eur J Endocrinol 2004 May;150(5):643-8. doi: 10.1530/eje.0.1500643. PMID: 15132719

Prognosis

Familial acromegaly - case study of two sisters with acromegaly.
Malicka J, Świrska J, Nowakowski A
Endokrynol Pol 2011;62(6):554-7. PMID: 22144223

Clinical prediction guides

Isolated familial somatotropinoma: 11q13-loh and gene/protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis.
Toledo RA, Mendonca BB, Fragoso MC, Soares IC, Almeida MQ, Moraes MB, Lourenço DM Jr, Alves VA, Bronstein MD, Toledo SP
Clinics (Sao Paulo) 2010 Apr;65(4):407-15. doi: 10.1590/S1807-59322010000400010. PMID: 20454499Free PMC Article
Genome-wide scan identifies novel modifier loci of acromegalic phenotypes for isolated familial somatotropinoma.
Khoo SK, Pendek R, Nickolov R, Luccio-Camelo DC, Newton TL, Massie A, Petillo D, Menon J, Cameron D, Teh BT, Chan SP
Endocr Relat Cancer 2009 Sep;16(3):1057-63. Epub 2009 May 14 doi: 10.1677/ERC-08-0287. PMID: 19443539

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