Research Papers:
Mutational profile and genotype/phenotype correlation of non-familial pheochromocytoma and paraganglioma
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Abstract
Shatha Albattal1,6, Meshael Alswailem1, Yosra Moria2, Hindi Al-Hindi3, Majed Dasouki4,5, Mohamed Abouelhoda4,5, Hala Aba Alkhail3, Entissar Alsuhaibani6 and Ali S. Alzahrani1,2
1 Department of Molecular Oncology, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
2 Department of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
3 Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
4 Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia
5 Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11211, Saudi Arabia
6 Faculty of Science, King Saud University, Riyadh 11211, Saudi Arabia
Correspondence to:
Ali S. Alzahrani, | email: | [email protected] |
Keywords: pheochromocytoma; paraganglioma; mutations; NGS; SDHB
Received: June 24, 2019 Accepted: August 16, 2019 Published: October 15, 2019
ABSTRACT
About 30%–40% of patients with pheochromocytoma (PCC) and paraganglioma (PGL) have underlying germline mutations in certain susceptibility genes despite absent family history of these tumors. Here, we present mutational profile of 101 such patients with PCC/PGL (PPGL) from the highly consanguineous population of Saudi Arabia.
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PII: 27194