A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma
Pheochromocytoma and paraganglioma are tumors of neuroectoderm origin. Up to 40% of patients with these tumors have germline mutations in known susceptibility genes. We report a novel RET germline mutation (exon 15; c.2692G>T (D898Y)) in a pheochromocytoma patient, as well as in her two asymptoma...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2018/8657914 |
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| author | Jin Wook Yi Hye In Kang Su-jin Kim Chan Yong Seong Young Jun Chai June Young Choi Moon-Woo Seong Kyu Eun Lee Sung Sup Park |
| author_facet | Jin Wook Yi Hye In Kang Su-jin Kim Chan Yong Seong Young Jun Chai June Young Choi Moon-Woo Seong Kyu Eun Lee Sung Sup Park |
| author_sort | Jin Wook Yi |
| collection | DOAJ |
| description | Pheochromocytoma and paraganglioma are tumors of neuroectoderm origin. Up to 40% of patients with these tumors have germline mutations in known susceptibility genes. We report a novel RET germline mutation (exon 15; c.2692G>T (D898Y)) in a pheochromocytoma patient, as well as in her two asymptomatic sons and older sister. A 49-year-old female came to our clinic presenting with a right adrenal gland mass detected during a healthcare examination. Her mother and two sisters had previously undergone thyroidectomy for papillary thyroid carcinomas. The levels of vanillylmandelic acid and other catecholamines were elevated in 24-hour urine, and an imaging study revealed a right adrenal mass. She underwent laparoscopic adrenalectomy and the final pathologic diagnosis was pheochromocytoma. Mutation screening detected a RET p.D898Y mutation, both in the patient and in the patient’s two sons and older sister. This is the first description of a RET D898Y mutation in a pheochromocytoma patient and her family. The mutation should be categorized as a variant of unknown significance because no RET gene related disorders were detected in this family. Long term follow-up will be required to determine the clinical significance of the RET D898Y mutation. |
| format | Article |
| id | doaj-art-a656ecfb37104de791f0ecfdf283f0d4 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-a656ecfb37104de791f0ecfdf283f0d42025-08-20T03:38:48ZengWileyCase Reports in Endocrinology2090-65012090-651X2018-01-01201810.1155/2018/86579148657914A Novel RET D898Y Germline Mutation in a Patient with PheochromocytomaJin Wook Yi0Hye In Kang1Su-jin Kim2Chan Yong Seong3Young Jun Chai4June Young Choi5Moon-Woo Seong6Kyu Eun Lee7Sung Sup Park8Department of Surgery, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of KoreaDepartment of Surgery, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of KoreaDepartment of Surgery, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of KoreaDepartment of Surgery, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of KoreaDepartment of Surgery, Seoul National University Boramae Medical Center, 20 Boramae-ro 5-gil, Dongjak-gu, Seoul 156-70, Republic of KoreaDepartment of Surgery, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Republic of KoreaDepartment of Laboratory Medicine, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of KoreaDepartment of Surgery, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of KoreaDepartment of Laboratory Medicine, Seoul National University Hospital and College of Medicine, 101 Daehak-ro, Jongno-gu, Seoul 110-744, Republic of KoreaPheochromocytoma and paraganglioma are tumors of neuroectoderm origin. Up to 40% of patients with these tumors have germline mutations in known susceptibility genes. We report a novel RET germline mutation (exon 15; c.2692G>T (D898Y)) in a pheochromocytoma patient, as well as in her two asymptomatic sons and older sister. A 49-year-old female came to our clinic presenting with a right adrenal gland mass detected during a healthcare examination. Her mother and two sisters had previously undergone thyroidectomy for papillary thyroid carcinomas. The levels of vanillylmandelic acid and other catecholamines were elevated in 24-hour urine, and an imaging study revealed a right adrenal mass. She underwent laparoscopic adrenalectomy and the final pathologic diagnosis was pheochromocytoma. Mutation screening detected a RET p.D898Y mutation, both in the patient and in the patient’s two sons and older sister. This is the first description of a RET D898Y mutation in a pheochromocytoma patient and her family. The mutation should be categorized as a variant of unknown significance because no RET gene related disorders were detected in this family. Long term follow-up will be required to determine the clinical significance of the RET D898Y mutation.http://dx.doi.org/10.1155/2018/8657914 |
| spellingShingle | Jin Wook Yi Hye In Kang Su-jin Kim Chan Yong Seong Young Jun Chai June Young Choi Moon-Woo Seong Kyu Eun Lee Sung Sup Park A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma Case Reports in Endocrinology |
| title | A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma |
| title_full | A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma |
| title_fullStr | A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma |
| title_full_unstemmed | A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma |
| title_short | A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma |
| title_sort | novel ret d898y germline mutation in a patient with pheochromocytoma |
| url | http://dx.doi.org/10.1155/2018/8657914 |
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