Pheochromocytoma: Impact of genetic testing on clinical practice in Vietnam

  • Minh Duc Do
  • Thang Viet Tran
  • Hoang Linh Le Gia
  • Hoang Van Lam
  • Hen Huu Phan
  • Minh Binh Ta
  • An Thuy Thi Nguyen
  • Ngoc The Phung
  • Diana E Benn
  • Bruce G Robinson
  • Vu Anh Hoang
  • Thao Phuong Mai

Tóm tắt

Introduction: Germline mutations in predisposing genes have been found in 30-40% of pheochromocytoma/paraganglioma patients. Screening for inherited genetic mutations provide clinicians with mutation-positive patient management strategies in addition to identifying family members at risk of disease. However, genetic testing for pheochromocytoma has not been performed widely in Vietnam.

Methods: Seven patients diagnosed with pheochromocytoma in Vietnam underwent germline genetic testing in known pheochromocytoma-associated genes by direct sequencing. When a germline mutation was identified the first-degree relatives were counseled and offered genetic testing for the inherited mutation.

Results: Mutations were found in five of seven cases and all mutations were in RET proto-oncogene codon 634 indicating a high risk of developing aggressive medullary thyroid cancer and in some cases leading to prophylactic thyroidectomy as recommended.

Conclusions: Genetic testing plays an essential role in the clinical management of pheochromocytoma patients. Genetic results have significantly changed the clinical approach in these patients and identified ‘at risk’ family members.

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Phát hành ngày
2021-04-07
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