Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

Medientyp: E-Artikel
Titel: Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors
Beteiligte: Marques, Pedro; Caimari, Francisca; Hernández-Ramírez, Laura C; Collier, David; Iacovazzo, Donato; Ronaldson, Amy; Magid, Kesson; Lim, Chung Thong; Stals, Karen; Ellard, Sian; Grossman, Ashley B; Korbonits, Márta; Abraham, Prakash; Aflorei, Elena; Agha, Amar; Ahlquist, James; Akker, Scott A; Alexandraki, Krystallenia; Alföldi, Sándor; Anselmo, João; Arlt, Wiebke; Atkinson, Brew; Aulinas-Masó, Anna; Aylwin, Simon J; [...]
Erschienen: The Endocrine Society, 2020
Erschienen in: The Journal of Clinical Endocrinology & Metabolism
Sprache: Englisch
DOI: 10.1210/clinem/dgaa040
ISSN: 0021-972X; 1945-7197
Schlagwörter: Biochemistry (medical) ; Clinical Biochemistry ; Endocrinology ; Biochemistry ; Endocrinology, Diabetes and Metabolism
Entstehung:
Anmerkungen:
Beschreibung: <jats:title>Abstract</jats:title> <jats:sec> <jats:title>Context</jats:title> <jats:p>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).</jats:p> </jats:sec> <jats:sec> <jats:title>Objective</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec> <jats:title>Design</jats:title> <jats:p>12-year prospective, observational study.</jats:p> </jats:sec> <jats:sec> <jats:title>Participants & Setting</jats:title> <jats:p>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.</jats:p> </jats:sec> <jats:sec> <jats:title>Interventions & Outcome</jats:title> <jats:p>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).</jats:p> </jats:sec> <jats:sec> <jats:title>Results</jats:title> <jats:p>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).</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats:p>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.</jats:p> </jats:sec>
Zugangsstatus: Freier Zugang

Nur in Feld suchen:

Zuletzt gesuchte Begriffe: