TY - JOUR
T1 - Significant benefits of AIP testing and clinical screening in familial isolated and young-onset pituitary tumors
AU - FIPA Consortium
AU - Marques, Pedro
AU - Caimari, Francisca
AU - Hernández-Ramírez, Laura C.
AU - Collier, Avid
AU - Iacovazzo, Donato
AU - Ronaldson, Amy
AU - Magid, Kesson
AU - Lim, Chung Thong
AU - Stals, Karen
AU - Ellard, Sian
AU - Grossman, Ashley B.
AU - Korbonits, Márta
AU - Choong, Catherine
PY - 2020/6/1
Y1 - 2020/6/1
N2 - Context: Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) geneare responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadicpituitary neuroendocrine tumors (PitNETs).Objective: To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patientswith clinically presenting patients and to compare the clinical characteristics of AIPmut andAIPneg PitNET patients.Design: 12-year prospective, observational study.Participants & Setting: We studied probands and family members of FIPA kindreds and sporadicpatients with disease onset =18 years or macroadenomas with onset =30 years (n = 1477). Thiswas a collaborative study conducted at referral centers for pituitary diseases.Interventions & Outcome: AIP testing and clinical screening for pituitary disease. Comparison ofcharacteristics 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 suprasellarextension or cavernous sinus invasion and required fewer treatments with fewer operationsand no radiotherapy compared with clinically presenting cases; there were fewer cases withactive 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 clinicallypresenting cases, demonstrating the benefits of genetic and clinical screening. AIP-relatedpituitary disease has a wide spectrum ranging from aggressively growing lesions to stable orindolent disease course.
AB - Context: Germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) geneare responsible for a subset of familial isolated pituitary adenoma (FIPA) cases and sporadicpituitary neuroendocrine tumors (PitNETs).Objective: To compare prospectively diagnosed AIP mutation-positive (AIPmut) PitNET patientswith clinically presenting patients and to compare the clinical characteristics of AIPmut andAIPneg PitNET patients.Design: 12-year prospective, observational study.Participants & Setting: We studied probands and family members of FIPA kindreds and sporadicpatients with disease onset =18 years or macroadenomas with onset =30 years (n = 1477). Thiswas a collaborative study conducted at referral centers for pituitary diseases.Interventions & Outcome: AIP testing and clinical screening for pituitary disease. Comparison ofcharacteristics 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 suprasellarextension or cavernous sinus invasion and required fewer treatments with fewer operationsand no radiotherapy compared with clinically presenting cases; there were fewer cases withactive 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 clinicallypresenting cases, demonstrating the benefits of genetic and clinical screening. AIP-relatedpituitary disease has a wide spectrum ranging from aggressively growing lesions to stable orindolent disease course.
KW - Aryl hydrocarbon receptor-interacting protein
KW - Familial isolated pituitary Adenoma
KW - Gigantism
KW - Pituitary adenoma
KW - Pituitary neuroendocrine tumor
KW - Somatotropinoma
UR - http://www.scopus.com/inward/record.url?scp=85084418226&partnerID=8YFLogxK
U2 - 10.1210/clinem/dgaa040
DO - 10.1210/clinem/dgaa040
M3 - Article
C2 - 31996917
AN - SCOPUS:85084418226
SN - 0021-972X
VL - 105
SP - e2247–e2260
JO - Journal of Clinical Endocrinology and Metabolism
JF - Journal of Clinical Endocrinology and Metabolism
IS - 6
ER -
