Spots Global Cancer Trial Database for Clinical and Genetic Investigation of the Association Between Primary Aldosteronism and Thyroid Cancer

Study Description

Brief Summary: Aldosterone excess can cause oxidative stress leading to DNA damage in vitro and in vivo. Single case reports demonstrated a coincidence of primary aldosteronism (PA) with different malignancies. A higher prevalence of thyroid nodules and non-toxic multinodular goiter was described in patients with PA compared to those with essential hypertension (EH). A single study showed an association between PA and papillary thyroid cancer (PTC), but without a paired control group. Objective: To assess PA prevalence in a transversal cohort of patients with PTC and EH compared to a paired control group with HT.

Detailed Description: Primary aldosteronism (PA) is the most frequent cause of endocrine hypertension, with an estimated prevalence of 20% among individuals with resistant hypertension. PA is associated with an increased risk of malignancy, probably due to aldosterone effects in promoting cell proliferation. Recently, a high prevalence of PA was demonstrated in patients with essential hypertension (EH) and papillary thyroid cancer (PTC), similarly to the prevalence of PA among individuals with resistant EH. In addition, abnormalities in thyroid ultrasound (non-toxic multinodular goiter) are more common in PA patients when compared to controls. Despite of this initial evidence, the link between PA and PTC remains to be elucidated. Then, the aim of this study is to investigate the clinical and genetic aspects of the association between PA and PTC. The specific aims are: 1) To evaluate the prevalence of PA in a transversal cohort of patients with EH and PCT; 2) To investigate thyroid ultrasonography abnormalities in PA patients; 3) To perform exome sequencing (blood DNA) in patients with PA and PTC paired with tumor tissue; and 4) To conduct functional studies of the novel genetic variants identified by exome sequencing. To achieve this goal, the investigators will employ the following techniques: next-generation sequencing, bioinformatic analysis, real-time PCR and immunohistochemistry. In this project, the investigators expect to establish the prevalence of PA among patients with EH and PTC, and to identify new genetic targets involved in the association between PA in PTC.

Keywords

Eligibility

Minimum Age: 18 Years

Eligible Ages: ADULT, OLDER_ADULT

Sex: ALL

Healthy Volunteers: No

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