Accès ouvert déclaré
2020
article
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
Pedro Marques, Francisca Caimari, Laura C. Hernández‐Ramírez, David Collier, Donato Iacovazzo, Amy Ronaldson, Kesson Magid, Chung Thong Lim, Karen Stals, Sian Ellard, Ashley Grossman, Márta Korbonits, Prakash Abraham, Elena Daniela Aflorei, Amar Agha, James Ahlquist, Scott Akker, Krystallenia Alexandraki, Sándor Alföldi, João Anselmo, Wiebke Arlt, Brew Atkinson, Anna Aulinas-Masó, Simon Aylwin, Atik Baborie, Philippe Backeljauw, Corin Badiu, Stephanie E Baldeweg, Steve Ball, Gul Bano, Ariel Barkan, John Barton, Julian Barwell, P. C. Bates, Carmen Bernal-González, Michael Besser, John S. Bevan, Alex Bickerton, Joanne Blair, Marek Bolanowski, Pierre Bouloux, Lisa Bradley, Karin Bradley, Caroline Brain, Antonia Brooke, Roger Brown, Michael Buchfelder, Christine Burren, Mehtap Çakır, Natalie Canham, Joël Capraro, Paul Carroll, Philippa Carter, David Carty, Dominic Cavlan, Harvinder Chahal, Tim Cheetham, F. Chentli, Catherine S. Choong, Mirjam Christ‐Crain, Teng‐Teng Chung, Peter Clayton, Richard N. Clayton, Mark L. Cohen, Hamish Courtney, David J. Cove, Elizabeth Crowne, Daniel J. Cuthbertson, Jacob Dal, Nadezhda Dalantaeva, Svetozar Damjanović, Christina Daousi, Ken Darzy, Mehul Dattani, Michaela Davies, Justin Davies, J.R. Davis, Margaret de Castro, Laura De Marinis, Cheri Deal, Judit Dénes, Paul Dimitri, Neil Dorward, Graham Dow, William Drake, Maralyn Druce, Juliana Drummond, Pinaki Dutta, Larisa Dzeranova, Britt Edén Engström, Rosalind A. Eeles, Maria Elfving, Kate Ellis, Marianne S. Elston, Louise Emmerson, Shereen Ezzat, Naomi Fersht, Simona Fica, Stefan Fischli, Maria Fleseriu, Elizabeth Forsythe, William D. Foulkes, Pamela U. Freda, Theodore C. Friedman, Mônica R. Gadelha, Mary Gainsborough, Stephen Gallacher, Patricia Gallego, Hoong‐Wei Gan, Carmen Emanuela Georgescu, Evelien Gevers, Catherine Gilkes, Nigel Glynn, James E. Goldman, Anthony P. Goldstone, Miklós Góth, Andrew Green, Lynn Greenhalgh, Joan Grieve, Luiz Griz, Mirtha Guitelman, Alper Gürlek, Mark Gurnell, Peter S. Hamblin, Václav Hána, P. Harding, Eleanor Hay, David A. Hilton, Winnie Ho, Greg Hong, Katalin Horváth, Simon Howell, Trevor A. Howlett, Charlotte Höybye, Steven Hunter, Chandi Idampitiya, Péter Igaz, Ali Imran, Warrick J. Inder, Takeo Iwata, Louise Izatt, Sujatha Jagadeesh, C.F. Johnston, Biju Jose, Gregory Kaltsas, Felicity Kaplan, Niki Karavitaki, Darko Kaštelan, Michelle L. Katz, Tara Kearney, Melanie Kershaw, Bernard Khoo, Cathy Kiraly‐Borri, Robertas Knispelis, Gábor L. Kovaćs, Anand Kumar, Ajith Kumar, Imre Zoltán Kun, Angelos Kyriaku, Ioana Maria Lambrescu, Anne Katrin Lampe, Edward R. Laws, Agnieszka Łebek-Szatańska, Ronald M. Lechan, Graham Leese, Andrew Levy, Miles Levy, Krzysztof Lewandowski, Eleanor Lin, Janet Lo, Catherine Lyons, Niki Maartens, Mohamad Maghnie, Taffy Makaya, Hani J. Marcus, Marek Niedziela, Niamh Martin, Akira Matsuno, Barbara McGowan, Siobhán McQuaid, Milica Medic‐Stojanoska, Nigel Mendoza, Moisés Mercado-Atri, Sachith Mettananda, Emese Mezősi, Dragana Miljić, Karen K. Miller, Silvia Modenesi, Mark E. Molitch, John P. Monson, Damian Morris, Patrick J. Morrison, Barbara Mosterman, Alia Munir, Robert Murray, Mädälina Muşat, Nina Rosa de Castro Musolino, Lisa B. Nachtigall, Dinesh Nagi, Ramesh Nair, Richard L. Nelson, John Newell‐Price, Khash Nikookam, Arla Ogilivie, Steve Orme, Martin O. Weickert, Aparna Pal, Ionela Pașcanu, Attila Patócs, Catherine Patterson, Simon H. S. Pearce, Francesca Pecori Giraldi, Lynette S. Penney, Luis Gustavo Perez‐Rivas, Marija Pfeifer, Fraser Pirie, Nicola Poplawski, Vera Popović, Michael Powell, P. T. Pullan, Richard Quinton, Serban Radian, Harpal Randeva, Narendra Reddy, Aled Rees, Valerie Renals, Antônio Ribeiro de Oliveira, Tristan Richardson, Celia Rodd, Richard Ross, Federico Roncaroli, Fiona Ryan, Roberto Salvatori, Christof Schöfl, Debbie Shears, Kevin Shotliff, Robert Skelly, Katie Snape, Beatriz Santana Soares, Noel Somasundaram, Anna Spada, James Sperber, Helen Spoudeas, Maria Stelmachowska‐Banaś, Susan D. Stewart, Helen L. Storr, Christian J. Strasburger, Maria Elisabeth Street, Isabelle Suter‐Widmer, Graeme Suthers, Francesca Swords, Luis V. Syro, Swantje Brede, Candy Sze, Juliet Taylor, Rajesh V. Thakker, Elaine Tham, Chris Thompson, Michael O. Thorner, Miklós Tóth, Peter Trainer, Stylianos Tsagarakis, Gina Twine, Marinella Tzanela, János Vadász, Bijay Vaidya, Vladimir Vaks, Mary Lee Vance, Rasa Verkauskienė, Hilde Van Esch, John Wass, Mona Waterhouse, Susan M. Webb, Astrid Weber, Florian Wernig, Håkan Widell, Shozo Yamada, Patrick Yap, Sema Yarman, Philip Yeoh, Katsuhiko Yoshimoto, Kevin C.J. Yuen, Nicola N. Zammitt
72Citations signalées, ce qui n’est pas une note de qualité
6Institutions déclarées
2Pays d’affiliation déclarés
Rattachement africain : gb, us.
Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
CONTEXT: Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadic pituitary neuroendocrine tumors (PitNETs). OBJECTIVE: To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patients with clinically presenting patients and to compare the clinical characteristics of AIPmut and AIPneg PitNET patients. DESIGN: 12-year prospective, observational study. PARTICIPANTS & SETTING: We studied probands and family members of FIPA kindreds and sporadic patients with disease onset ≤18 years or macroadenomas with onset ≤30 years (n = 1477). This was a collaborative study conducted at referral centers for pituitary diseases. INTERVENTIONS & OUTCOME: AIP testing and clinical screening for pituitary disease. Comparison of characteristics of prospectively diagnosed (n = 22) vs clinically presenting AIPmut PitNET patients (n = 145), and AIPmut (n = 167) vs AIPneg PitNET patients (n = 1310). RESULTS: Prospectively diagnosed AIPmut PitNET patients had smaller lesions with less suprasellar extension or cavernous sinus invasion and required fewer treatments with fewer operations and no radiotherapy compared with clinically presenting cases; there were fewer cases with active disease and hypopituitarism at last follow-up. When comparing AIPmut and AIPneg cases, AIPmut patients were more often males, younger, more often had GH excess, pituitary apoplexy, suprasellar extension, and more patients required multimodal therapy, including radiotherapy. AIPmut patients (n = 136) with GH excess were taller than AIPneg counterparts (n = 650). CONCLUSIONS: Prospectively diagnosed AIPmut patients show better outcomes than clinically presenting cases, demonstrating the benefits of genetic and clinical screening. AIP-related pituitary disease has a wide spectrum ranging from aggressively growing lesions to stable or indolent disease course.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé, mais le titre doit être comparé manuellement.
- Titre Crossref
- Significant Benefits of <i>AIP</i> Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
- Date Crossref
- 30/01/2020
- Éditeur
- The Endocrine Society
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Les institutions déclarées
Une affiliation ne permet pas de déduire la nationalité d’un auteur.
Les sujets associés
Pituitary Gland Disorders and TreatmentsGrowth Hormone and Insulin-like Growth FactorsNeuroendocrine Tumor Research Advances