A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma

Yi, Jin Wook; Kang, Hyuk; Kim, Sujin; Seong, Chan Yong; Chai, Young Jun; Choi, June Young; Seong, Moon-Woo; Lee, Kyu Eun; Park, Sung Sup

doi:10.1155/2018/8657914

Cited by 2 publications

(2 citation statements)

References 26 publications

(27 reference statements)

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“…However, clinical constellations presented in Case 1 definitely showed a pathologic and poor prognostic role of the RET D898Y mutation. There is only one case report demonstrating unilateral pheochromocytoma with an RET D898Y mutation [ 17 ]. Although these two RET alterations were different from each other, both showed excellent therapeutic efficacy with more than a partial response to selpercatinib treatment.…”

Section: Discussionmentioning

confidence: 99%

Initial Experiences of Selective RET Inhibitor Selpercatinib in Adults with Metastatic Differentiated Thyroid Carcinoma and Medullary Thyroid Carcinoma: Real-World Case Series in Korea

Baek

et al. 2023

Current Oncology

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Recently, selpercatinib, a highly selective inhibitor of RET receptor tyrosine kinase, has been used for RET-altered thyroid cancer. We present four cases of patients with advanced thyroid cancer who were treated with selpercatinib. The first patient was a 63-year-old male with advanced medullary thyroid cancer (MTC) treated with vandetanib. Six months ago, he had an intracranial hemorrhage and swallowing difficulty. He started selpercatinib with percutaneous endoscopic gastrostomy (PEG). For 11 months, a partial response (PR) was observed stably with PEG administration without any more cardiovascular events. The second patient was a 67-year-old female with advanced MTC treated with vandetatib. After selpercatinib treatment, a PR was observed for most metastatic sites, including choroidal metastasis. The third patient was a 32-year-old female with advanced papillary thyroid cancer (PTC) without history of systematic treatment. For six months, a PR was observed at her metastatic site with manageable adverse events. The last patient was a 59-year-old female with advanced PTC treated with lenvatinib. She suffered from a panic disorder and pleural pain due to metastasis during lenvatinib treatment. After selpercatinib treatment, her pain and panic symptoms were improved. Facing varying clinical obstacles of the real world, selpercatinib safely proved remarkable therapeutic efficacy regardless of previous treatment or metastatic site.

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Section: Discussionmentioning

confidence: 99%

Initial Experiences of Selective RET Inhibitor Selpercatinib in Adults with Metastatic Differentiated Thyroid Carcinoma and Medullary Thyroid Carcinoma: Real-World Case Series in Korea

Baek

et al. 2023

Current Oncology

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“…Germline mutations of the RET proto-oncogene are associated with MEN-2 syndrome and familial medullary thyroid carcinoma (MTC). The penetrance of MEN-2 varies according to the specific causative mutation ( 6 ). RET gene mutations have also been associated with lung cancer, adenocarcinoma of the colon, and melanoma ( 7 ).…”

Section: Discussionmentioning

confidence: 99%

RET T244I Germline Variant Mutation in a Patient with Pancreatic Paraganglioma and Primary Hyperparathyroidism

Kim¹,

Aploks²,

Vargas-Pinto³

et al. 2022

Int J Endocrinol Metab

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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.

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A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma

Cited by 2 publications

References 26 publications

Initial Experiences of Selective RET Inhibitor Selpercatinib in Adults with Metastatic Differentiated Thyroid Carcinoma and Medullary Thyroid Carcinoma: Real-World Case Series in Korea

Initial Experiences of Selective RET Inhibitor Selpercatinib in Adults with Metastatic Differentiated Thyroid Carcinoma and Medullary Thyroid Carcinoma: Real-World Case Series in Korea

RET T244I Germline Variant Mutation in a Patient with Pancreatic Paraganglioma and Primary Hyperparathyroidism

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