Adrenal tumours in patients with pathogenic APC mutations: a retrospective study.

IF 2 4区 医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2024-09-03 DOI:10.1186/s13053-024-00289-1
Lyman Lin, Victoria Beshay, Finlay Macrae
{"title":"Adrenal tumours in patients with pathogenic APC mutations: a retrospective study.","authors":"Lyman Lin, Victoria Beshay, Finlay Macrae","doi":"10.1186/s13053-024-00289-1","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Adrenal tumours are associated with familial adenomatous polyposis (FAP). In the literature, most studies use the clinical definition of FAP (more than 100 adenomatous polyps found in endoscopic studies). However, not all patients that meet clinical criteria for FAP carry pathogenic mutations in the adenomatous polyposis coli (APC) gene, as there is genetic heterogeneity responsible for FAP with the polyposis sometimes explained by genetic and environmental factors other than pathogenic APC mutations. Reciprocally, not all the patients with pathogenic APC variants will fulfil the classic criteria of FAP.</p><p><strong>Objective: </strong>This study aims to investigate the characteristics of adrenal tumours in patients with pathogenic or likely pathogenic APC variants and explore the hormonal function of these patients.</p><p><strong>Method: </strong>This is a retrospective cohort study. Patients with pathogenic or likely pathogenic APC variants were recruited and their radiological assessments were reviewed. Patient demographic data, APC variants, adrenal mass characteristics and hormonal testing results were collected.</p><p><strong>Result: </strong>The prevalence of adrenal mass was 26.7% (24/90) among patients with pathogenic or likely pathogenic APC variants. Using the classic definition, the prevalence was 32.4% (22/68). Four patients had adrenal hormone testing, two of which had Conn's syndrome and two had nonspecific subclinical results.</p><p><strong>Conclusion: </strong>In our cohort, the prevalence of adrenal tumours among patients with pathogenic and likely pathogenic APC mutations is at least twice to three times higher than the general population prevalence reported from international population-based studies. The hormonal functions of patients with pathogenic APC variants and adrenal tumours can be investigated with routine testing in further research.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"22 1","pages":"17"},"PeriodicalIF":2.0000,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11370095/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hereditary Cancer in Clinical Practice","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1186/s13053-024-00289-1","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ONCOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Background: Adrenal tumours are associated with familial adenomatous polyposis (FAP). In the literature, most studies use the clinical definition of FAP (more than 100 adenomatous polyps found in endoscopic studies). However, not all patients that meet clinical criteria for FAP carry pathogenic mutations in the adenomatous polyposis coli (APC) gene, as there is genetic heterogeneity responsible for FAP with the polyposis sometimes explained by genetic and environmental factors other than pathogenic APC mutations. Reciprocally, not all the patients with pathogenic APC variants will fulfil the classic criteria of FAP.

Objective: This study aims to investigate the characteristics of adrenal tumours in patients with pathogenic or likely pathogenic APC variants and explore the hormonal function of these patients.

Method: This is a retrospective cohort study. Patients with pathogenic or likely pathogenic APC variants were recruited and their radiological assessments were reviewed. Patient demographic data, APC variants, adrenal mass characteristics and hormonal testing results were collected.

Result: The prevalence of adrenal mass was 26.7% (24/90) among patients with pathogenic or likely pathogenic APC variants. Using the classic definition, the prevalence was 32.4% (22/68). Four patients had adrenal hormone testing, two of which had Conn's syndrome and two had nonspecific subclinical results.

Conclusion: In our cohort, the prevalence of adrenal tumours among patients with pathogenic and likely pathogenic APC mutations is at least twice to three times higher than the general population prevalence reported from international population-based studies. The hormonal functions of patients with pathogenic APC variants and adrenal tumours can be investigated with routine testing in further research.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
致病性 APC 基因突变患者的肾上腺肿瘤:一项回顾性研究。
背景:肾上腺肿瘤与家族性腺瘤性息肉病(FAP)有关:肾上腺肿瘤与家族性腺瘤性息肉病(FAP)有关。在文献中,大多数研究都采用了 FAP 的临床定义(在内窥镜检查中发现超过 100 个腺瘤性息肉)。然而,并非所有符合 FAP 临床标准的患者都携带大肠腺瘤性息肉病(APC)基因的致病突变,因为 FAP 存在遗传异质性,息肉病有时可由 APC 致病突变以外的遗传和环境因素解释。反过来说,并非所有具有致病性 APC 变异的患者都符合 FAP 的典型标准:本研究旨在调查具有致病性或可能具有致病性 APC 变异的患者肾上腺肿瘤的特征,并探讨这些患者的激素功能:这是一项回顾性队列研究。方法:这是一项回顾性队列研究,研究人员招募了具有致病性或可能具有致病性 APC 变异的患者,并对他们的放射学评估进行了回顾。收集了患者的人口统计学数据、APC变体、肾上腺肿块特征和激素检测结果:结果:在具有致病性或可能致病的 APC 变体的患者中,肾上腺肿块的患病率为 26.7%(24/90)。根据经典定义,发病率为 32.4%(22/68)。四名患者进行了肾上腺激素检测,其中两人患有康恩综合征,两人有非特异性亚临床结果:结论:在我们的队列中,致病性和可能致病性APC突变患者的肾上腺肿瘤发病率比国际人群研究报告的普通人群发病率至少高出两到三倍。在进一步的研究中,可以通过常规检测来调查致病性APC变异和肾上腺肿瘤患者的激素功能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
期刊最新文献
BRCA2 germline mutation carrier with five malignancies: a case report. A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives. Breast cancer and ATM mutations: treatment implications. Meeting abstracts from the Annual Conference "Clinical Genetics of Cancer 2023". Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1