Evidence map›Paper›PMID 38851643›Full record

ArticleEndocrine2024

Germline AIP variants in sporadic young acromegaly and pituitary gigantism: clinical and genetic insights from a Han Chinese cohort.

Boni Xiang, Xintong Zhang, Wenjuan Liu, Bei Mao, Yao Zhao, Yongfei Wang, Wei Gong, Hongying Ye, Yiming Li, Zhaoyun Zhang and 2 more

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Article in Endocrine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Boni Xiang *Department of Endocrinology and Metabolism, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China.
Xintong Zhang *Department of Endocrinology and Metabolism, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China.
Wenjuan LiuDepartment of Endocrinology and Metabolism, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China.
Bei MaoDepartment of Endocrinology and Metabolism, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China.
Yao ZhaoDepartment of Neurosurgery, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China.
Yongfei WangDepartment of Neurosurgery, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China.
Wei GongDepartment of Endocrinology and Metabolism, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China.
Hongying YeDepartment of Endocrinology and Metabolism, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China.
Yiming LiDepartment of Endocrinology and Metabolism, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China.
Zhaoyun ZhangDepartment of Endocrinology and Metabolism, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China.
Yifei YuDepartment of Endocrinology and Metabolism, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China. yuyifeihs@126.com.
Min HeDepartment of Endocrinology and Metabolism, Huashan Hospital, Fudan University, No. 12 Wulumuqi Middle Road, Shanghai, China. hemin2@huashan.org.cn.

Funding

National Key Research and Development Program of China 2019YFA0801900the Clinical Research Plan of Shanghai Hospital Development Center No. SHDC12018X04
6 · The paper itself

Abstract

purposeVariants in the Aryl hydrocarbon receptor-interacting protein (AIP) gene have been identified in sporadic acromegaly and pituitary gigantism, especially in young patients, with a predisposition to aggressive clinical phenotype and poor treatment efficacy. The clinical characteristics of patients with sporadic acromegaly and pituitary gigantism as well as AIP variants in Han Chinese have been rarely reported. We aimed to identify AIP gene variants and analyze the clinical characteristics of patients with sporadic acromegaly and pituitary gigantism in Han Chinese.

methodsThe study included 181 sporadic acromegaly (N = 163) and pituitary gigantism (N = 18) patients with an onset age of no more than 45 years old, who were diagnosed, treated, and followed up in Huashan Hospital. All 6 exons and their flanking regions of the AIP gene were analyzed with Sanger sequencing or NGS. The clinical characteristics were compared between groups with and without AIP variants.

resultsGermline AIP variants were found in 15/181 (8.29%) cases. In patients with an onset age ≤30 years old, AIP variants were identified in 12/133 (9.02%). Overall, 13 variants were detected. The pathogenic (P) variants p.R304X and p.R81X were identified in four cases, with two instances of each variant. Six exon variants (p.C254R, p.K103fs, p.Q228fs, p.Y38X, p.Q213*, and p.1115 fs) have not been reported before, which were likely pathogenic (LP). Patients with P/LP variants had younger onset ages, a higher prevalence of pituitary gigantism, larger tumor volumes, and a higher percentage of Ki-67-positive cells in tumors. In addition, the group with P/LP variants showed a less significant reduction of GH levels in an acute octreotide suppression test (OST) [17.7% (0, 65.0%) vs. 80.5% (63.9%, 90.2%), P = 0.001], and a trend of less GH decrease after the 3-month treatment with long-acting somatostatin analogs (SSAs).

conclusionGermline AIP variants existed in sporadic Chinese Han acromegaly and pituitary gigantism patients and were more likely to be detected in young patients. AIP variants were associated with more aggressive tumor phenotypes and less response to SSA treatment.

Indexed as

AcromegalyGigantismIntracellular Signaling Peptides and ProteinsAdolescentAdultChildChild, PreschoolChinaCohort StudiesEast Asian PeopleFemaleGerm-Line MutationHumansMaleMiddle AgedYoung Adultaryl hydrocarbon receptor-interacting proteinIntracellular Signaling Peptides and ProteinsAcromegalyAryl hydrocarbon receptor-interacting proteinPituitary gigantismSomatostatin analogs

Identifiers

PMID38851643

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.