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Whole exome sequencing for the investigation of novel genetic causes of metastatic Pheochromocytomas and Paragangliomas

Grant number: 21/11240-9
Support Opportunities:Scholarships in Brazil - Post-Doctorate
Effective date (Start): November 01, 2021
Effective date (End): October 31, 2023
Field of knowledge:Health Sciences - Medicine - Medical Clinics
Principal Investigator:Madson Queiroz Almeida
Grantee:Felipe Freitas de Castro
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


Pheochromocytomas and Paragangliomas are neuroendocrine tumors derived from chromaffin cells. Approximately 15-20% of Pheochromocytomas and Paragangliomas are classified as metastatic, defined by the presence of tumor in non-chromaffin tissues. To date, at least 20 susceptibility genes for PPGLs have been reported. Germline pathogenic variants in SDHB gene are the most well-established risk factor to predict metastatic disease in 40-50% of cases. In our Institution, germline genetic alterations in SDHB were found in 25% of the cases, SDHD 3%, NF1 3%, SDHA 3% and MET 3%. Therefore, 63% of the metastatic Pheochromocytomas and Paragangliomas of our cohort remain without genetic diagnosis after investigation using a gene target sequencing panel by massive parallel sequencing. The aim of this project is to investigate novel genetic causes of metastatic Pheochromocytomas and Paragangliomas. The specific aims are: 1) to perform whole exome sequencing of germline and tumor DNA of 20 patients with metastatic pheochromocytoma or paraganglioma; 2) to correlate the genetic findings with clinical and follow-up data; 3) to perform functional studies to evaluate the pathogenicity of the rare and in silico deleterious germline variants in new candidate genes. (AU)

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