Literature DB >> 19522821

Multiple endocrine neoplasias: advances and challenges for the future.

M Alevizaki1, C A Stratakis.   

Abstract

Several important advances have been made over the last 2 years, since the last international workshop on multiple endocrine neoplasias (MENs) that was held in Marseilles, France (MEN2006). The series of articles that are included in this issue summarize the most important of these advances as they were presented in Delphi, Greece, during the 11th International Workshop on MENs, September 25-27, 2008 (MEN2008). This editorial summarizes some of these advances: the identification of the AIP, and the PDE11A and PDE8B genes by genome-wide association (GWA) studies as predisposing genes for pituitary and adrenal tumours, respectively, the discovery of p27 mutations in a new form of MEN similar to MEN type 1 (MEN 1) that is now known as MEN 4, the molecular investigations of Carney triad (CT), a disorder that associates paragangliomas (PGLs), gastrointestinal stromal tumour (GISTs), and pulmonary chondromas (PCH) with pheochromocytomas and adrenocortical adenomas and other lesions, and the molecular elucidation of the association of GISTs with paragangliomas (Carney-Stratakis syndrome) that is now known to be because of SDHB, SDHC, and SDHD mutations. Molecular investigations in Carney complex (another MEN also described by Dr. Carney, who during the meeting, along with Dr. Charles E. ('Gene') Jackson was honoured for his life-long and many contributions to the field) have also revealed the role of cyclic AMP signalling in tumorigenesis. As our knowledge of the molecular causes of MENs increases, the challenge is to translate these discoveries in better treatments for our patients. Indeed, new advances in the preventive diagnosis and molecular treatment of MEN 1 and MEN 2, respectively, continued unabated, and an update on this front was also presented at MEN2008 and is included in this issue.

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Year:  2009        PMID: 19522821      PMCID: PMC3138202          DOI: 10.1111/j.1365-2796.2009.02108.x

Source DB:  PubMed          Journal:  J Intern Med        ISSN: 0954-6820            Impact factor:   8.989


  25 in total

1.  Pituitary adenoma predisposition caused by germline mutations in the AIP gene.

Authors:  Outi Vierimaa; Marianthi Georgitsi; Rainer Lehtonen; Pia Vahteristo; Antti Kokko; Anniina Raitila; Karoliina Tuppurainen; Tapani M L Ebeling; Pasi I Salmela; Ralf Paschke; Sadi Gündogdu; Ernesto De Menis; Markus J Mäkinen; Virpi Launonen; Auli Karhu; Lauri A Aaltonen
Journal:  Science       Date:  2006-05-26       Impact factor: 47.728

2.  Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population.

Authors:  Anelia Horvath; Christoforos Giatzakis; Audrey Robinson-White; Sosipatros Boikos; Elizabeth Levine; Kurt Griffin; Erica Stein; Virginia Kamvissi; Payal Soni; Ioannis Bossis; Wouter de Herder; J Aidan Carney; Jérôme Bertherat; Peter K Gregersen; Elaine F Remmers; Constantine A Stratakis
Journal:  Cancer Res       Date:  2006-12-15       Impact factor: 12.701

Review 3.  Medullary thyroid carcinoma and biomarkers: past, present and future.

Authors:  W van Veelen; J W B de Groot; D S Acton; R M W Hofstra; J W M Höppener; T P Links; C J M Lips
Journal:  J Intern Med       Date:  2009-07       Impact factor: 8.989

4.  Multiple endocrine neoplasias in the era of translational medicine.

Authors:  C A Stratakis; S J Marx
Journal:  Horm Metab Res       Date:  2005-06       Impact factor: 2.936

5.  Germ-line mutations in nonsyndromic pheochromocytoma.

Authors:  Hartmut P H Neumann; Birke Bausch; Sarah R McWhinney; Bernhard U Bender; Oliver Gimm; Gerlind Franke; Joerg Schipper; Joachim Klisch; Carsten Altehoefer; Klaus Zerres; Andrzej Januszewicz; Charis Eng; Wendy M Smith; Robin Munk; Tanja Manz; Sven Glaesker; Thomas W Apel; Markus Treier; Martin Reineke; Martin K Walz; Cuong Hoang-Vu; Michael Brauckhoff; Andreas Klein-Franke; Peter Klose; Heinrich Schmidt; Margarete Maier-Woelfle; Mariola Peçzkowska; Cesary Szmigielski; Charis Eng
Journal:  N Engl J Med       Date:  2002-05-09       Impact factor: 91.245

6.  Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.

Authors:  Natalia S Pellegata; Leticia Quintanilla-Martinez; Heide Siggelkow; Elenore Samson; Karin Bink; Heinz Höfler; Falko Fend; Jochen Graw; Michael J Atkinson
Journal:  Proc Natl Acad Sci U S A       Date:  2006-10-09       Impact factor: 11.205

7.  A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia.

Authors:  Anelia Horvath; Sosipatros Boikos; Christoforos Giatzakis; Audrey Robinson-White; Lionel Groussin; Kurt J Griffin; Erica Stein; Elizabeth Levine; Georgia Delimpasi; Hui Pin Hsiao; Meg Keil; Sarah Heyerdahl; Ludmila Matyakhina; Rossella Libè; Amato Fratticci; Lawrence S Kirschner; Kevin Cramer; Rolf C Gaillard; Xavier Bertagna; J Aidan Carney; Jérôme Bertherat; Ioannis Bossis; Constantine A Stratakis
Journal:  Nat Genet       Date:  2006-06-11       Impact factor: 38.330

Review 8.  Hereditary hormone excess: genes, molecular pathways, and syndromes.

Authors:  Stephen J Marx; William F Simonds
Journal:  Endocr Rev       Date:  2005-01-04       Impact factor: 19.871

Review 9.  Multiple endocrine neoplasia--introduction.

Authors:  S J Marx; C A Stratakis
Journal:  J Intern Med       Date:  2005-01       Impact factor: 8.989

Review 10.  Deregulation of genetic pathways in neuroendocrine tumors.

Authors:  A Calender; C Vercherat; P Gaudray; J A Chayvialle
Journal:  Ann Oncol       Date:  2001       Impact factor: 32.976

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  6 in total

Review 1.  MEN4 and CDKN1B mutations: the latest of the MEN syndromes.

Authors:  Rami Alrezk; Fady Hannah-Shmouni; Constantine A Stratakis
Journal:  Endocr Relat Cancer       Date:  2017-08-19       Impact factor: 5.678

Review 2.  A Role for Phosphodiesterase 11A (PDE11A) in the Formation of Social Memories and the Stabilization of Mood.

Authors:  Michy P Kelly
Journal:  Adv Neurobiol       Date:  2017

3.  Prologue to the volume: Endocrine tumors and their genetics, a perspective.

Authors:  Constantine A Stratakis
Journal:  Best Pract Res Clin Endocrinol Metab       Date:  2010-06       Impact factor: 4.690

Review 4.  The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications.

Authors:  C A Stratakis; J A Carney
Journal:  J Intern Med       Date:  2009-07       Impact factor: 8.989

Review 5.  Case Report: New CDKN1B Mutation in Multiple Endocrine Neoplasia Type 4 and Brief Literature Review on Clinical Management.

Authors:  Elisabetta Lavezzi; Alessandro Brunetti; Valeria Smiroldo; Gennaro Nappo; Vittorio Pedicini; Eleonora Vitali; Giampaolo Trivellin; Gherardo Mazziotti; Andrea Lania
Journal:  Front Endocrinol (Lausanne)       Date:  2022-03-09       Impact factor: 5.555

6.  MEN4, the MEN1 Mimicker: A Case Series of three Phenotypically Heterogenous Patients With Unique CDKN1B Mutations.

Authors:  Amanda Seabrook; Ayanthi Wijewardene; Sunita De Sousa; Tang Wong; Nisa Sheriff; Anthony J Gill; Rakesh Iyer; Michael Field; Catherine Luxford; Roderick Clifton-Bligh; Ann McCormack; Katherine Tucker
Journal:  J Clin Endocrinol Metab       Date:  2022-07-14       Impact factor: 6.134

  6 in total

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