Aryl hydrocarbon receptor interacting protein (AIP) gene mutation analysis in children and adolescents with sporadic pituitary adenomas

Clinical Endocrinology
Marianthi GeorgitsiLauri A Aaltonen

Abstract

Pituitary adenomas occur rarely in childhood and adolescence. Pituitary adenoma predisposition (PAP) has been recently associated with germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. The aim of the study was to examine the proportion of germline AIP mutations in apparently sporadic paediatric pituitary adenomas. Genomic DNA was analysed for mutations in the AIP gene, by PCR amplification and direct sequencing. A population-based cohort consisting of 36 apparently sporadic paediatric pituitary adenoma patients, referred to two medical centres in Italy, was included in the study. Patients were either less than 18 years at diagnosis, or showed clinical evidence of adenoma development before the age of 18 years. A heterozygous in-frame deletion Y248del (c.742_744delTAC) was identified in one GH-secreting adenoma patient. Loss of heterozygosity (LOH) analysis of tumour DNA revealed the loss of the wild-type allele. First degree relatives carrying the mutation were clinically unaffected. While mutations were absent in non-GH-secreting adenoma patients, germline AIP mutations can be found in children and adolescents with GH-secreting tumours, even in the absence of family history. The present study ...Continue Reading

References

Oct 1, 1991·Neurosurgery·S F HaddadA H Menezes
Oct 1, 1994·The Journal of Clinical Endocrinology and Metabolism·L A KaneD Zimmerman
Feb 1, 1995·Neurosurgery·T Mindermann, C B Wilson
Feb 1, 1994·Neurosurgery·E H DyerP Derome
Feb 1, 1994·Journal of Neurosurgery·M D PartingtonB W Scheithauer
Apr 25, 1997·The Journal of Biological Chemistry·L A Carver, C A Bradfield
Feb 26, 2000·The Journal of Clinical Endocrinology and Metabolism·A GiustinaS Melmed
Jul 13, 2000·Endocrine Journal·T TamuraH Okazaki
Mar 27, 2001·Journal of Endocrinological Investigation·E De MenisN Conte
Sep 11, 2001·The Journal of Clinical Endocrinology and Metabolism·C A StratakisJ A Carney
Dec 12, 2001·The Journal of Clinical Endocrinology and Metabolism·M L BrandiS J Marx
Mar 19, 2003·Clinical Endocrinology·S CannavòF Trimarchi
Jun 18, 2003·The Journal of Biological Chemistry·Graeme B BolgerMiles D Houslay
Oct 15, 2003·The Journal of Cell Biology·Masato YanoMasataka Mori
May 27, 2006·Science·Outi VierimaaLauri A Aaltonen
Jun 30, 2006·The Journal of Biological Chemistry·Byoung Heon Kang, Dario C Altieri
Aug 29, 2006·EMBO Reports·Marie-Stéphanie Clerget FroidevauxBarbara A Demeneix
Sep 8, 2006·Journal of Endocrinological Investigation·E CacciariA Cicognani
Oct 5, 2006·The Journal of Clinical Endocrinology and Metabolism·Run YuShlomo Melmed
Jan 25, 2007·The Journal of Clinical Endocrinology and Metabolism·Adrian F DalyAlbert Beckers
Feb 15, 2007·The Journal of Clinical Endocrinology and Metabolism·Anne BarlierAlbert Beckers
Mar 8, 2007·The Journal of Clinical Endocrinology and Metabolism·Rodrigo A ToledoPatricia L M Dahia
Mar 16, 2007·Proceedings of the National Academy of Sciences of the United States of America·Marianthi GeorgitsiLauri A Aaltonen
Sep 26, 2007·European Journal of Endocrinology·Albert Beckers, Adrian F Daly
Oct 6, 2007·Endocrine Pathology·Rebecca DiGiovanniSylvia L Asa

❮ Previous
Next ❯

Citations

Aug 24, 2012·Pituitary·Maria Chiara ZatelliSalvatore Cannavò
Jan 7, 2011·The New England Journal of Medicine·Harvinder S ChahalMárta Korbonits
Apr 2, 2011·The Journal of Endocrinology·Giampaolo Trivellin, Márta Korbonits
Jul 15, 2011·European Journal of Endocrinology·Maria A TichomirowaAlbert Beckers
Jan 12, 2013·Journal of Endocrinological Investigation·F MartucciM Korbonits
Sep 21, 2013·European Journal of Endocrinology·Feng CaiRen-Zhi Wang
Dec 10, 2013·Endocrine Pathology·Sylvia L Asa, Ozgur Mete
Nov 26, 2013·Endocrine Pathology·Sylvia L Asa, Shereen Ezzat
Jan 28, 2016·Endocrine·Francesco FerraùS Cannavò
Sep 14, 2010·Best Practice & Research. Clinical Endocrinology & Metabolism·Silvia VandevaAlbert Beckers
Jun 24, 2010·Trends in Endocrinology and Metabolism : TEM·Harvinder S ChahalMárta Korbonits
Feb 26, 2011·Clinical and Translational Science·Federica Guaraldi, Roberto Salvatori
May 23, 2012·Clinical Endocrinology·Márta KorbonitsAjith V Kumar
Apr 2, 2016·Endocrine·Claudia Ramírez-RenteríaMoisés Mercado
Sep 17, 2013·Molecular and Cellular Endocrinology·Yunli ZhouAnne Klibanski
Oct 29, 2014·Nature Reviews. Endocrinology·Anne-Lise LecoqPhilippe Chanson
Jul 1, 2009·Nature Reviews. Endocrinology·Marianne S ElstonBruce G Robinson
Jun 23, 2012·The Journal of Clinical Endocrinology and Metabolism·Rajesh V ThakkerUNKNOWN Endocrine Society
May 2, 2013·The Journal of Clinical Endocrinology and Metabolism·Elena PardiFilomena Cetani
Nov 10, 2009·Expert Review of Molecular Diagnostics·Cristiana Pistol TanaseRadu Albulescu
Jan 26, 2011·Expert Review of Endocrinology & Metabolism·Paraskevi XekoukiConstantine A Stratakis
Sep 1, 2010·Expert Review of Endocrinology & Metabolism·Joshua W CainMárta Korbonits
Jan 9, 2020·Reviews in Endocrine & Metabolic Disorders·Christina Tatsi, Constantine A Stratakis
Apr 16, 2009·The Journal of Clinical Endocrinology and Metabolism·Manuela VargioluElena Bonora
Mar 1, 2017·Expert Review of Endocrinology & Metabolism·D IacovazzoM Korbonits
Nov 1, 2009·Expert Review of Endocrinology & Metabolism·Marie-Lise Jaffrain-ReaAlbert Beckers
Dec 28, 2019·Journal of Clinical Medicine·Christina Tatsi, Constantine A Stratakis
Jan 11, 2020·Frontiers in Endocrinology·Medard F M van den BroekGerlof D Valk
Mar 1, 2011·Expert Review of Endocrinology & Metabolism·Marie-Lise Jaffrain-ReaAlbert Beckers
Apr 4, 2019·Frontiers in Endocrinology·Mariana Ferreira BizziAntonio Ribeiro-Oliveira
Jan 13, 2021·Endocrine Pathology·Sylvia L AsaShereen Ezzat
May 22, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Sylvia L AsaUNKNOWN Attendees of the 15th Meeting of the International Pituitary Pathology Club, Istanbul October 2019

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cancer Incidence & Mortality

Cancer has emerged as a global concern due to its increase in incidence and mortality. Efforts are underway to evaluate and develop action plans to reduce the global burden of cancer. Currently, lung cancer, breast cancer and prostate cancer are the leading causes of cancer mortality. Here is the latest research on cancer incidence and mortality.