Abstract | CONTEXT: 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.
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Authors | Pedro Marques, Francisca Caimari, Laura C Hernández-Ramírez, David Collier, Donato Iacovazzo, Amy Ronaldson, Kesson Magid, Chung Thong Lim, Karen Stals, Sian Ellard, Ashley B Grossman, Márta Korbonits, FIPA Consortium |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 105
Issue 6
(06 01 2020)
ISSN: 1945-7197 [Electronic] United States |
PMID | 31996917
(Publication Type: Journal Article, Observational Study, Research Support, N.I.H., Intramural, Research Support, Non-U.S. Gov't)
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Copyright | © Endocrine Society 2020. |
Chemical References |
- Biomarkers
- Intracellular Signaling Peptides and Proteins
- aryl hydrocarbon receptor-interacting protein
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Topics |
- Adolescent
- Adult
- Age of Onset
- Biomarkers
(analysis)
- Female
- Follow-Up Studies
- Genetic Testing
(methods)
- Growth Hormone-Secreting Pituitary Adenoma
(diagnosis, genetics)
- Humans
- Intracellular Signaling Peptides and Proteins
(genetics)
- Male
- Mass Screening
(methods)
- Mutation
- Pituitary Neoplasms
(diagnosis, genetics)
- Prognosis
- Prospective Studies
- Young Adult
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