| Item type |
文献 / Documents(1) |
| 公開日 |
2020-04-17 |
| アクセス権 |
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|
アクセス権 |
open access |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版社版DOI |
|
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1210/clinem/dgaa040 |
|
|
言語 |
ja |
|
|
関連名称 |
10.1210/clinem/dgaa040 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| タイトル |
|
|
タイトル |
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors |
|
言語 |
en |
| タイトル別表記 |
|
|
その他のタイトル |
AIP Mutation-positive Pituitary Tumors |
|
言語 |
en |
| 著者 |
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
岩田, 武男
吉本, 勝彦
|
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
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. |
|
言語 |
en |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
pituitary neuroendocrine tumor |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
pituitary adenoma |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
familial isolated pituitary adenoma |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
somatotropinoma |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
gigantism |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
aryl hydrocarbon receptor-interacting protein |
| 書誌情報 |
en : The Journal of Clinical Endocrinology & Metabolism
巻 105,
号 6,
p. dgaa040,
発行日 2020-01-30
|
| 収録物ID |
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|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
0021972X |
| 収録物ID |
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|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
19457197 |
| 収録物ID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00695484 |
| 収録物ID |
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|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA1203774X |
| 出版者 |
|
|
出版者 |
The Endocrine Society |
|
言語 |
en |
| 出版者 |
|
|
出版者 |
Oxford University Press |
|
言語 |
en |
| 備考 |
|
|
言語 |
ja |
|
値 |
Collaborators : Members of the FIPA consortium are listed at http://www.fipapatients.org/fipaconsortium/. |
| 権利情報 |
|
|
言語 |
en |
|
権利情報 |
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
| EID |
|
|
識別子 |
363551 |
|
識別子タイプ |
URI |
| 言語 |
|
|
言語 |
eng |
jcem_105_6_dgaa040.pdf (405 KB)
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