Related Experiment Video
Updated: Aug 20, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
RET T244I Germline Variant Mutation in a Patient with Pancreatic Paraganglioma and Primary Hyperparathyroidism
Minha Kim1,2, Krist Aploks1,2, Susana Vargas-Pinto1,2
1Division of Surgical Oncology, Nuvance Health, Danbury, CT, USA.
Introduction:
Paragangliomas are rare neuroendocrine tumors that arise from chromaffin cells. Often termed extra-adrenal pheochromocytomas, these tumors vary with regards to their functionality, location, and malignant potential. Mutations in the RET proto-oncogene are associated with multiple endocrine neoplasia syndrome type 2 (MEN-2) and paragangliomas. The phenotypes of the individual mutations are documented to help determine prognosis.
Case Presentation:
We report a case of a 64-year-old man with a history of parathyroid adenoma who developed a pancreatic retroperitoneal paraganglioma. Despite having laboratory evidence of excess circulating catecholamines, the patient's only presenting symptom was hip pain. The patient underwent resection, and histologic findings were consistent with paraganglioma with lymph node metastasis. Genetic testing revealed a variant of uncertain significance within the RET gene [c.731C>T (p.T244I)].
Conclusions:
Paragangliomas are rare extra-adrenal neuroendocrine tumors that can be associated with germline mutations. Our patient was diagnosed with a pancreatic paraganglioma associated with a RET T244I mutation. Identifying patients with germline mutations is important for documenting phenotypic presentations of RET gene variants of uncertain significance, which will allow physicians to provide proper management and surveillance of paragangliomas and other associated tumors.
