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Clinical and genetic investigation of the association between Primary Aldosteronism and Papillary Thyroid Cancer

Grant number: 21/09879-1
Support Opportunities:Scholarships in Brazil - Doctorate (Direct)
Effective date (Start): October 01, 2021
Effective date (End): June 30, 2025
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Madson Queiroz Almeida
Grantee:Ana Alice Wolf Maciel
Host Institution: Hospital das Clínicas da Faculdade de Medicina da USP (HCFMUSP). Secretaria da Saúde (São Paulo - Estado). São Paulo , SP, Brazil
Associated research grant:19/15873-6 - Investigation of new genetic, clinical and pathological aspects of endocrine arterial hypertension, AP.TEM


Primary Aldosteronism (PA) is the most frequent cause of Endocrine Hypertension (HT), with an estimated prevalence of 20% among individuals with resistant HT. 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 HT and Papillary Thyroid Cancer (PTC), similarly to the prevalence of PA among individuals with resistant HT. 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 HT 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, we will employ the following techniques: next-generation sequencing, bioinformatic analysis, real-time PCR and immunohistochemistry. In this project, we expect to establish the prevalence of PA among patients with HT and PTC, and to identify new genetic players involved in the association between PA in PTC. (AU)

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Scientific publications
(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)
MACHEI, A. A. W.; FREITAS, T. C.; FAGUNDES, G. F. C.; PETENUCI, J.; VILELA, L. A. P.; BRITO, L. P.; GOLDBAUM, T. S.; ZERBINI, M. C. N.; LEDESMA, F. L.; YANNO, F. Y.; et al. Intra-individual Variability of Serum Aldosterone and Implications for Primary Aldosteronism Screening (Nov, dgac679, 2022). JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, v. N/A, p. 1-pg., . (19/15873-6, 21/09879-1)

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