Endocrinology and Metabolism

Original Article

Obesity and Metabolism
A Novel Mutation in the Von Hippel-Lindau Tumor Suppressor Gene Identified in a Patient Presenting with Gestational Diabetes Mellitus: Yun Hyi Ku, Chang Ho Ahn, Chan-Hyeon Jung, Jie Eun Lee, Lee-Kyung Kim, Soo Heon Kwak, Hye Seung Jung, Kyong Soo Park, Young Min Cho; Endocrinol Metab. 2013;28(4):320-325. Published online December 12, 2013; DOI: https://doi.org/10.3803/EnM.2013.28.4.320

4,200 View
29 Download
4 Crossref

Background

Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited, multisystemic tumor syndrome caused by mutations in the VHL gene. To date, more than 1,000 germline and somatic mutations of the VHL gene have been reported. We present a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus.

Methods

A 30-year-old woman presented with gestational diabetes mellitus. She sequentially showed multiple pancreatic cysts, spinal cord hemangioblastoma, cerebellar hemangioblastoma, and clear cell type renal cell carcinomas. Also, her father and brother had brain hemangioblastomas. Each of the three exons of the VHL gene was individually amplified by polymerase chain reaction and direct sequencing was performed using an ABI 3730 DNA analyzer.

Results

DNA sequence analysis to determine the presence of VHL mutation in her family revealed del291C, a novel frameshift mutation.

Conclusion

We found a novel mutation in the VHL tumor suppressor gene that presented with gestational diabetes mellitus.

Citations

Citations to this article as recorded by

Diversities of Mechanism in Patients with VHL Syndrome and diabetes: A Report of Two Cases and Literature Review
Yanlei Wang, Zhaoxiang Liu, Wenhui Zhao, Chenxiang Cao, Luqi Xiao, Jianzhong Xiao
Diabetes, Metabolic Syndrome and Obesity.2024; Volume 17: 1611. CrossRef
Retinal hemangioblastoma in a patient with Von Hippel-Lindau disease: A case report and literature review
Yikeng Huang, Weiwen Hu, Xionggao Huang
Frontiers in Oncology.2022;[Epub] CrossRef
Updates on the Role of Molecular Alterations and NOTCH Signalling in the Development of Neuroendocrine Neoplasms
Claudia von Arx, Monica Capozzi, Elena López-Jiménez, Alessandro Ottaiano, Fabiana Tatangelo, Annabella Di Mauro, Guglielmo Nasti, Maria Lina Tornesello, Salvatore Tafuto
Journal of Clinical Medicine.2019; 8(9): 1277. CrossRef
Brief Review of Articles in 'Endocrinology and Metabolism' in 2013
Won-Young Lee
Endocrinology and Metabolism.2014; 29(3): 251. CrossRef

Case Reports

A Case of von Hippel-Lindau Disease Presenting with Pancreatic Neuroendocrine Tumor.: Jung Hun Ohn, Junghee Kim, Hyun Jung Lee, Won Woo Seo, Yul Hwang-Bo, Eun Shil Hong, Jin Joo Park, Seong Yeon Kim; Endocrinol Metab. 2011;26(1):89-91. Published online March 1, 2011; DOI: https://doi.org/10.3803/EnM.2011.26.1.89

2,308 View
20 Download
1 Crossref

Abstract PDF

Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder that results from a germline mutation of the VHL gene. The affected individuals might develop several benign or malignant tumors such as central nervous system or retinal haemangioblastomas, endolymphatic sac tumors, renal cell carcinomas, pheochromocytomas or pancreatic cysts and neuroendocrine tumors. We report here on a case of a 21 year old female with von Hippel-Lindau disease and she presented with only pancreatic neuroendocrine tumor and no evidence of haemangioblastomas or other visceral complications. Further, direct sequencing of the VHL gene reveals a novel germline frameshift mutation of codon 198 from the deletion of nucleotide 592 (cytosine), leading to truncation of the VHL protein.

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; J Korean Endocr Soc. 2006;21(3):239-244. Published online June 1, 2006; DOI: https://doi.org/10.3803/jkes.2006.21.3.239

2,216 View
17 Download
1 Crossref

Abstract PDF

Von Hippel-Lindau (VHL) disease is an autosomal dominant neoplasia syndrome that result from a germline mutation in the VHL gene. Germline mutation in the VHL gene lead to the development of hemangioblastomas of the central nervous system and retina, cysts and clear cell carcinoma of the kidney, cyst adenomas of other organs, and pheochromocytoma. VHL is a tumor suppressor gene on the short arm of chromosome 3. VHL disease has been classified into two main clinical subtypes depending on the presence (type 2) or absence (type 1) of pheochromocytoma. Type 2 has been subdivided into three categories depending on the presence (type 2B) or absence (type 2A) of renal cell carcinoma, with type 2C being a rare subtype in which pheochromocytoma is the sole manifestation of VHL disease. Recently we experienced a family with VHL type 1 who carry C to T (Q73X) transition in codon 217 nonsense germline mutation in exon 1 of VHL gene. The authors report this case with literature review.

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 Report of von Hippel-Lindau Disease Manifested in a Monozygous Twin.: 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; J Korean Endocr Soc. 2005;20(4):395-400. Published online August 1, 2005; DOI: https://doi.org/10.3803/jkes.2005.20.4.395

2,039 View
21 Download
2 Crossref

Abstract PDF

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.

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

First
Prev
Page of 1
Next
Last

Search