Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors.

Reviews in Endocrine & Metabolic Disorders
Anelia Horvath, C A Stratakis

Abstract

Pituitary tumors are among the most common neoplasms in man; they account for approximately 15% of all primary intracranial lesions (Jagannathan et al., Neurosurg Focus, 19:E4, 2005). Although almost never malignant and rarely clinically expressed, pituitary tumors may cause significant morbidity in affected patients. First, given the critical location of the gland, large tumors may lead to mass effects, and, second, proliferation of hormone-secreting pituitary cells leads to endocrine syndromes. Acromegaly results from oversecretion of growth hormone (GH) by the proliferating somatotrophs. Despite the significant efforts made over the last decade, still little is known about the genetic causes of common pituitary tumors and even less is applied from this knowledge therapeutically. In this review, we present an update on the genetic syndromes associated with pituitary adenomas and discuss the related genetic defects. We next review findings on sporadic, non-genetic, pituitary tumors with an emphasis on pathways and animal models of pituitary disease. In conclusion, we attempt to present an overall, integrative approach to the human molecular genetics of both familiar and sporadic pituitary tumors.

References

Dec 12, 1991·The New England Journal of Medicine·L S WeinsteinA M Spiegel
Jul 1, 1990·The Journal of Clinical Investigation·J M AlexanderA Klibanski
Aug 10, 1990·Science·J LyonsH R Bourne
Jun 1, 1990·Clinical Endocrinology·M I McCarthyJ P Monson
Jun 1, 1989·The Journal of Clinical Endocrinology and Metabolism·L CuttlerL A Frohman
Jul 27, 1989·The New England Journal of Medicine·R V ThakkerJ L O'Riordan
Aug 1, 1989·Acta Endocrinologica·R G PestellJ D Best
Dec 1, 1994·Clinical Endocrinology·E A WilliamsonP E Harris
Nov 1, 1993·The Journal of Clinical Endocrinology and Metabolism·V AlvaroD Joubert
Apr 1, 1994·The Journal of Clinical Endocrinology and Metabolism·J ZhuP M Black
Apr 1, 1997·The Journal of Endocrinology·U SchiemannA Pfeiffer
May 1, 1997·Trends in Genetics : TIG·M A Brown, E Solomon
Mar 21, 1998·Proceedings of the National Academy of Sciences of the United States of America·S C GuruS C Chandrasekharappa
Oct 20, 1999·European Journal of Endocrinology·C T Esapa, P E Harris
Aug 30, 2000·The Journal of Biological Chemistry·D R Bell, A Poland
Oct 12, 2000·Biochemical and Biophysical Research Communications·S Khodaei-O'BrienP Gaudray
Nov 18, 2000·Pituitary·A VerloesA Beckers
Mar 20, 2001·The Journal of Clinical Investigation·B E HaywardD T Bonthron
Mar 29, 2001·Proceedings of the National Academy of Sciences of the United States of America·H KajiG N Hendy
Aug 14, 2001·Biochemical and Biophysical Research Communications·I H LemmensK Kas
Aug 15, 2001·The Journal of Clinical Endocrinology and Metabolism·L PersaniA Spada
Dec 6, 2001·Endocrine-related Cancer·B M Arafah, M P Nasrallah
Dec 12, 2001·Endocrine Pathology·T TsukadaT Kameya
Feb 6, 2002·Skeletal Radiology·Shaifali KaushikWilliam J Frable
Feb 12, 2002·The Journal of Clinical Endocrinology and Metabolism·Bruno VergèsAlain Calender
Mar 13, 2002·The Journal of Clinical Endocrinology and Metabolism·Xun ZhangAnne Klibanski

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Citations

Oct 24, 2008·Pituitary·Maria Gueorguiev, Ashley B Grossman
Apr 25, 2009·Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Métabolisme·L Drori-HerishanuC A Stratakis
Jun 10, 2011·The New England Journal of Medicine·Agnès LinglartCaroline Silve
Sep 21, 2012·European Journal of Endocrinology·Deison Soares de LimaMargaret Castro
May 25, 2013·Endocrine-related Cancer·R FormosaJ Vassallo
Apr 21, 2012·Endocrinología y nutrición : órgano de la Sociedad Española de Endocrinología y Nutrición·Marcos M Lima-MartínezRoald Gómez-Pérez
Nov 29, 2011·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Zhang SuojunLei Ting
Oct 22, 2010·Annales d'endocrinologie·S VandevaA Beckers
Dec 1, 2009·Best Practice & Research. Clinical Endocrinology & Metabolism·Dorota Dworakowska, Ashley B Grossman
Nov 4, 2009·Endocrinología y nutrición : órgano de la Sociedad Española de Endocrinología y Nutrición·Carmen Fajardo-MontañanaAlbert Beckers
Apr 2, 2016·Endocrine·Claudia Ramírez-RenteríaMoisés Mercado
Aug 14, 2010·Orvosi hetilap·Judit DénesMiklós Góth
Sep 10, 2013·Molecular and Cellular Endocrinology·Paraskevi Salpea, Constantine A Stratakis
Aug 15, 2014·Indian Journal of Pathology & Microbiology·Dhaneshwar N LanjewarJ Aidan Carney
Jan 27, 2009·Arquivos brasileiros de endocrinologia e metabologia·Vania S NunesCélia R Nogueira
Jul 1, 2009·Nature Reviews. Endocrinology·Marianne S ElstonBruce G Robinson
Apr 18, 2008·Expert Review of Neurotherapeutics·Margaret F Keil, Constantine A Stratakis
Apr 25, 2012·Neuropathology and Applied Neurobiology·I MarinoniN S Pellegata
Jan 2, 2013·Archives of Pathology & Laboratory Medicine·Nicole D Riddle, Marilyn M Bui
May 27, 2011·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Andrea Saggini, Maria Luisa Brandi
Jul 3, 2008·Current Opinion in Endocrinology, Diabetes, and Obesity·Martin O SavageHelen L Storr
Nov 26, 2010·Journal of Neuro-oncology·Helen MadsenB K Kleinschmidt-Demasters
Mar 23, 2017·World Journal of Surgery·Jerena ManoharanDetlef K Bartsch
Jan 1, 2012·BoneKEy Reports·C SilveE Clauser
Jul 3, 2008·Current Opinion in Endocrinology, Diabetes, and Obesity

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