Journal article
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
Pedro Marques, Francisca Caimari, Laura C Hernandez-Ramirez, David Collier, Donato Iacovazzo, Amy Ronaldson, Kesson Magid, Chung Thong Lim, Karen Stals, Sian Ellard, Ashley B Grossman, Marta Korbonits
Journal of Clinical Endocrinology and Metabolism | ENDOCRINE SOC | Published : 2020
Abstract
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 stud..
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Funding Acknowledgements
P.M. was supported by the Joan Adams and the Barts and The London Charity Clinical Research Training Fellowship. L.C.H.R. was supported by the Intramural Research Programs of Eunice Kennedy Shriver National Institute of Child Health & Human Development. M.K. had funding from the Medical Research Council (UK), Rosetrees Trust and Pfizer to support the studies on familial isolated pituitary adenomas.