- A Case Report of von Hippel-Lindau Disease Manifested in a Monozygous Twin.
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Jin Woo Kim, Sang Jo Choi, Yeon Kyeong Kim, Sang Mi Ahn, Kyoung Eun Song, Sun Hye Jung, Dae Jung Kim, Yoon Sok Chung, Kwan Woo Lee, Il Jin Kim, Hio Chung Kang, Jae Gahb Park
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J Korean Endocr Soc. 2005;20(4):395-400. Published online August 1, 2005
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DOI: https://doi.org/10.3803/jkes.2005.20.4.395
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- Von Hippel-Lindau (VHL) disease is an autosomal dominant disease, which forms hypervascular tumors in multiple organs, such as hemangioblastomas in the retina and central nervous system, renal cell carcinomas, pheochromocytomas and cysts in various organs. Recent advances in gene testing have made it possible to screen family members for VHL disease. We experienced a 28 year-old male, who was diagnosed with bilateral pheochromocytomas through a family screening test when his elder monozygous twin brother was diagnosed with a pheochromocytoma. He received no treatment until December, 2004, when he visited the Emergency room due to a headache. A hemangioma of the cerebellum was seen in the brain MR study, leading to the diagnosis of type 2A VHL disease. An abdominal CT scan revealed no lesions of the pancreas or kidney. There was no evidence of a hemangioma in the retinal scan. The subsequent gene testing showed a germline mutation in exon 3 codon 167 of the VHL gene. The mother of the patient was revealed to have the same mutation of the VHL gene, but the elder brother of the patient did not.
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Citations
Citations to this article as recorded by  - Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease
Sena Hwang, Cheol Ryong Ku, Ji In Lee, Kyu Yeon Hur, Myung-Shik Lee, Chul-Ho Lee, Kyo Yeon Koo, Jin-Sung Lee, Yumie Rhee
Journal of Human Genetics.2014; 59(9): 488. CrossRef - A Case of Type 1 von Hippel-Lindau (VHL) Disease associated with VHL Germline Mutation
Jeong Hoon Seo, Jae Hong Yang, Pyoung Lak Choi, Yu Lee Kim, Young Sik Choi, Yo Han Park, Ji Ho Ko, Hio Chung Kang, IL Jin Kim, Jae Gahb Park
Journal of Korean Endocrine Society.2006; 21(3): 239. CrossRef
- A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene.
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Yeon Kyeong Kim, Jin Woo Kim, Sang Mi Ahn, Kyoung Eun Song, Sun Hye Jung, Dae Jung Kim, Yoon Sok Chung, Kwan Woo Lee, Chul Ho Kim, Ji Hee Hong, Seon Yong Jeong, Hyon Ju Kim
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J Korean Endocr Soc. 2005;20(4):375-380. Published online August 1, 2005
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DOI: https://doi.org/10.3803/jkes.2005.20.4.375
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1,957
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- A medullary thyroid carcinoma, a neoplasm of parafollicular C cell origin, occurs as a sporadic or hereditary disease. A hereditary medullary thyroid carcinoma is an autosomal dominantly inherited disease, which is composed of multiple endocrine neoplasia 2A and 2B, with a familial medullary thyroid carcinoma. Germline mutations of the RET gene are the underlying cause of the majority of hereditary medullary carcinomas. Here, the case of a 42 years-old man with a familial medullary thyroid carcinoma, confirmed by the detection of a RET proto-oncogene mutation at exon 13 on codon 768 from a GAG(Glu) to a GAT(Asp), is described. The patient underwent a total thyroidectomy and modified radical neck dissection. His sister was found to have the same mutant gene.
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Citations
Citations to this article as recorded by - A Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation
Young Sik Choi, Hye Jung Kwon, Bu Kyung Kim, Su Kyoung Kwon, Yo Han Park, Jeong Hoon Kim, Sang Bong Jung, Chang Hoon Lee, Seong Keun Lee, Shinya Uchino
Journal of Korean Medical Science.2013; 28(1): 156. CrossRef - A Family of Multiple Endocrine Neoplasia Type 2A with a C634R Mutation and a G691S Polymorphism in RET Proto-oncogene
Seoung Wook Yun, Won Sang Yoo, Koo Hyun Hong, Bae Hwan Kim, Min Ho Kang, Young Kwang Choo, Hee Yoon Park, Do Hee Kim, Hyun-Kyung Chung, Myung-Chul Chang, Mi Seon Kwon, Hee Jin Kim
Journal of Korean Endocrine Society.2007; 22(6): 453. CrossRef
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