Lin Lyman, Beshay Victoria, Macrae Finlay
Department of Colorectal Medicine and Genetics, Royal Melbourne Hospital, Parkville, VIC, Australia.
Department of Molecular Diagnostic Pathology, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.
Hered Cancer Clin Pract. 2024 Sep 3;22(1):17. doi: 10.1186/s13053-024-00289-1.
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.
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.
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.
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.
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.
肾上腺肿瘤与家族性腺瘤性息肉病（FAP）相关。在文献中，大多数研究使用FAP的临床定义（在内镜检查中发现100多个腺瘤性息肉）。然而，并非所有符合FAP临床标准的患者在腺瘤性息肉病 coli（APC）基因中都携带致病突变，因为FAP存在遗传异质性，息肉病有时由致病APC突变以外的遗传和环境因素解释。相反，并非所有携带致病APC变异的患者都会符合FAP的经典标准。
本研究旨在调查携带致病或可能致病APC变异的患者肾上腺肿瘤的特征，并探索这些患者的激素功能。
这是一项回顾性队列研究。招募携带致病或可能致病APC变异的患者，并对其影像学评估进行回顾。收集患者的人口统计学数据、APC变异、肾上腺肿块特征和激素检测结果。
携带致病或可能致病APC变异的患者中肾上腺肿块的患病率为26.7%（24/90）。使用经典定义，患病率为32.4%（22/68）。4名患者进行了肾上腺激素检测，其中2名患有原发性醛固酮增多症，2名结果为非特异性亚临床结果。
在我们的队列中，携带致病和可能致病APC突变的患者中肾上腺肿瘤的患病率至少比国际人群研究报告的一般人群患病率高两到三倍。在进一步的研究中，可以通过常规检测来研究携带致病APC变异和肾上腺肿瘤患者的激素功能。
