Cancer Research and Treatment

Case Reports

Coexistence of VHL Disease and CPT2 Deficiency: A Case Report: Alfonso Massimiliano Ferrara, Monica Sciacco, Stefania Zovato, Silvia Rizzati, Irene Colombo, Francesca Boaretto, Maurizio Moggio, Giuseppe Opocher; Cancer Res Treat. 2016;48(4):1438-1442. Published online March 25, 2016; DOI: https://doi.org/10.4143/crt.2015.450

von Hippel-Lindau (VHL) disease is an inherited syndrome manifesting with benign and malignant tumors. Deficiency of carnitine palmitoyltransferase type II (CPT2) is a disorder of lipid metabolism that, in the muscle form, manifests with recurrent attacks of myalgias often associated with myoglobinuria. Rhabdomyolytic episodes may be complicated by life-threatening events, including acute renal failure (ARF). We report on a male patient who was tested, at 10 years of age, for VHL disease because of family history of VHL. He was diagnosed with VHL but without VHL-related manifestation at the time of diagnosis. During childhood, the patient was hospitalized several times for diffuse muscular pain, muscle weakness, and dark urine. These recurrent attacks of rhabdomyolysis were never accompanied by ARF. The patient was found to be homozygous for the mutation p.S113L of the CPT2 gene. To the best of our knowledge, this is the first report of the coexistence of VHL disease and CPT2 deficiency in the same individual. Based on findings from animal models, the case illustrates that mutations in the VHL gene might protect against renal damage caused by CPT2 gene mutations.

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A Deep Insight into Ferroptosis in Renal Disease: Facts and Perspectives
Zhongyu Han, Yuanke Luo, Haoran Chen, Guochen Zhang, Luling You, Meiqi Zhang, Yumeng Lin, Lan Yuan, Shiyi Zhou
Kidney Diseases.2024; 10(3): 224. CrossRef
Genotype–phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions
Kenan Zhang, Wuping Yang, Kaifang Ma, Jianhui Qiu, Lei Li, Yawei Xu, Zedan Zhang, Chaojian Yu, Jingcheng Zhou, Yanqing Gong, Lin Cai, Kan Gong
Journal of Medical Genetics.2023; 60(5): 477. CrossRef
Idiopathic interstitial pneumonia in a patient with von Hippel–Lindau syndrome: a first case
Letizia Corinna Morlacchi, Umberto Zanini, Andrea Gramegna, Paola Faverio, Francesco Blasi, Fabrizio Luppi
ERJ Open Research.2023; 9(6): 00504-2023. CrossRef
The Cross‐Link between Ferroptosis and Kidney Diseases
Jingyu Wang, Yi Liu, Yaqing Wang, Li Sun, Ana Cipak Gasparovic
Oxidative Medicine and Cellular Longevity.2021;[Epub] CrossRef
Prioritization of differentially expressed genes through integrating public expression data
W. Xu, S. Li, Z. Zhang, J. Hu, Y. Zhao
Animal Genetics.2019; 50(6): 726. CrossRef

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A Case of von Hippel–Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas: Su Jin Heo, Choong-kun Lee, Kyu Yeon Hahn, Gyuri Kim, Hyuk Hur, Sung Hoon Choi, Kyung Seok Han, Arthur Cho, Minkyu Jung; Cancer Res Treat. 2016;48(1):409-414. Published online February 17, 2015; DOI: https://doi.org/10.4143/crt.2014.299

Abstract PDF PubReader ePub

von Hippel–Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome associated with mutations of the VHL tumor suppressor gene located on chromosome 3p25. The loss of functional VHL protein contributes to tumorigenesis. This condition is characterized by development of benign and malignant tumors in the central nervous system (CNS) and the internal organs, including kidney, adrenal gland, and pancreas. We herein describe the case of a 74-year-old man carrying the VHL gene mutation who was affected by simultaneous colorectal adenocarcinoma, renal clear cell carcinoma, and hemangioblastomas of CNS.

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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
Sporadic Renal Hemangioblastoma: A Case Report of a Rare Entity
Fnu Raja, Vinesh Kumar, Azzam Hammad, Caroline Abramovich
Cureus.2023;[Epub] CrossRef
VHL syndrome without clear family history: A rare case report and literature review of Chinese patients
Yaheng Li, Xiaohong Xin, Wenzhu Song, Xuan Zhang, Shengli Chen, Qian Wang, Aizhong Li, Yafeng Li
Frontiers in Neurology.2022;[Epub] CrossRef
Von Hipple-Lindau disease complicated with central retinal vein occlusion: a case report
Xingwang Chen, Mengyao Wang, Yuan Tang, Bing Xie, Xiaomei Nie, Shanjun Cai
BMC Ophthalmology.2022;[Epub] CrossRef
Whole-Exome Sequencing Reveals Novel Variations in Patients with Familial Von Hippel−Lindau Syndrome
Yuhao Zhou, Jian Liu, Liangzhao Chu, Minghao Dong, Luqian Feng
World Neurosurgery.2021; 150: e696. CrossRef
Sporadic renal hemangioblastoma: A case report of a rare benign renal tumor
Lukas Oberhammer, Michael Josef Mitterberger, Lukas Lusuardi, Thomas Kunit, Martin Drerup, Daniela Colleselli, Hubert Griessner, Martina Hager
Clinical Case Reports.2019; 7(12): 2321. CrossRef
MicroRNA Assisted Gene Regulation in Colorectal Cancer
Adewale Fadaka, Ashley Pretorius, Ashwil Klein
International Journal of Molecular Sciences.2019; 20(19): 4899. CrossRef

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Sunitinib Treatment for Metastatic Renal Cell Carcinoma in Patients with Von Hippel-Lindau Disease: Ho Cheol Kim, Jung Su Lee, Sang Hyung Kim, Hoon Sub So, Chang Yoon Woo, Jae Lyun Lee; Cancer Res Treat. 2013;45(4):349-353. Published online December 31, 2013; DOI: https://doi.org/10.4143/crt.2013.45.4.349

Abstract PDF PubReader ePub

Von Hippel-Lindau (VHL) disease is an autosomal dominant disease that produces a variety of tumors and cysts in the central nervous system and visceral organs, including renal cell carcinoma (RCC). RCC in patients with VHL disease does not frequently metastasize, therefore, the response to treatment and prognosis of metastatic RCC developed in patients with VHL disease has not been reported. Sunitinib is an oral, multitargeted receptor tyrosine kinase inhibitor with antiangiogenic and antitumor activity. Here, we report on four patients with metastatic RCC in VHL disease who received sunitinib and achieved partial responses that have lasted for a prolonged period of time.

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The Clinical and Molecular Features in the VHL Renal Cancers; Close or Distant Relatives with Sporadic Clear Cell Renal Cell Carcinoma?
Alessandra Cinque, Roberto Minnei, Matteo Floris, Francesco Trevisani
Cancers.2022; 14(21): 5352. CrossRef
Hereditary renal cell tumors: Clinicopathologic importance
Harmanjot Singh, Mukul K. Divatia, Donghwa Baek, Jae Y. Ro
annals of urologic oncology.2021;[Epub] CrossRef
Von Hippel-Lindau Disease: Current Challenges and Future Prospects

Sven Gläsker, Evelynn Vergauwen, Christian A Koch, Alexander Kutikov, Alexander O Vortmeyer
OncoTargets and Therapy.2020; Volume 13: 5669. CrossRef
The VHL/HIF Axis in the Development and Treatment of Pheochromocytoma/Paraganglioma
Song Peng, Jun Zhang, Xintao Tan, Yiqiang Huang, Jing Xu, Natalie Silk, Dianzheng Zhang, Qiuli Liu, Jun Jiang
Frontiers in Endocrinology.2020;[Epub] CrossRef
Familial Kidney Cancer: Implications of New Syndromes and Molecular Insights
Maria I. Carlo, A. Ari Hakimi, Grant D. Stewart, Gennady Bratslavsky, James Brugarolas, Ying-Bei Chen, W. Marston Linehan, Eamonn R. Maher, Maria J. Merino, Kenneth Offit, Victor E. Reuter, Brian Shuch, Jonathan A. Coleman
European Urology.2019; 76(6): 754. CrossRef
The Efficacy and Safety of Tyrosine Kinase Inhibitors for Von Hippel–Lindau Disease: A Retrospective Study of 32 Patients
Kaifang Ma, Baoan Hong, Jingcheng Zhou, Yanqing Gong, Jiangyi Wang, Shengjie Liu, Xiang Peng, Bowen Zhou, Jiufeng Zhang, Haibiao Xie, Kenan Zhang, Lei Li, Desheng Cai, Zixin Wang, Lin Cai, Kan Gong
Frontiers in Oncology.2019;[Epub] CrossRef
A retrospective case study of sunitinib treatment in three patients with Von Hippel-Lindau disease
Gang Yuan, Qiuli Liu, Dali Tong, Gaolei Liu, Yuting Yi, Jun Zhang, Yao Zhang, Lin-ang Wang, Luofu Wang, Rongrong Chen, Yanfang Guan, Xin Yi, Weihua Lan, Jun Jiang
Cancer Biology & Therapy.2018; 19(9): 766. CrossRef
Genetic Predisposition to Renal Cell Carcinoma: Implications for Counseling, Testing, Screening, and Management
Brian Shuch, Jin Zhang
Journal of Clinical Oncology.2018; 36(36): 3560. CrossRef
A Case of von Hippel–Lindau Disease with Colorectal Adenocarcinoma, Renal Cell Carcinoma and Hemangioblastomas
Su Jin Heo, Choong-kun Lee, Kyu Yeon Hahn, Gyuri Kim, Hyuk Hur, Sung Hoon Choi, Kyung Seok Han, Arthur Cho, Minkyu Jung
Cancer Research and Treatment.2016; 48(1): 409. CrossRef
Attainment of a Long-term Favorable Outcome by Sunitinib Treatment for Pancreatic Neuroendocrine Tumor and Renal Cell Carcinoma Associated with von Hippel-Lindau Disease
Akihiro Kobayashi, Masanobu Takahashi, Hiroo Imai, Shoko Akiyama, Shunsuke Sugiyama, Keigo Komine, Ken Saijo, Masahiro Takahashi, Shin Takahashi, Hidekazu Shirota, Naomi Sato, Fumiyoshi Fujishima, Taro Shuin, Hideki Shimodaira, Chikashi Ishioka
Internal Medicine.2016; 55(6): 629. CrossRef
Sunitinib for the treatment of benign and malignant neoplasms from von Hippel-Lindau disease: A single-arm, prospective phase II clinical study from the PREDIR group
Stéphane Oudard, Reza Elaidi, Mara Brizard, Céline Le Rest, Valérie Caillet, Sophie Deveaux, Gérard Benoit, Jean-Michel Corréas, Farida Benoudiba, Philippe David, Alain Gaudric, Pascal Hammel, Dominique Joly, Marc Olivier Timsit, Arnaud Méjean, Stéphane R
Oncotarget.2016; 7(51): 85306. CrossRef
Pharmacogenomic biomarkers for personalized cancer treatment
C. Rodríguez‐Antona, M. Taron
Journal of Internal Medicine.2015; 277(2): 201. CrossRef
Pharmacological HIF2α inhibition improves VHL disease–associated phenotypes in zebrafish model
Ana Martins Metelo, Haley R. Noonan, Xiang Li, Youngnam Jin, Rania Baker, Lee Kamentsky, Yiyun Zhang, Ellen van Rooijen, Jordan Shin, Anne E. Carpenter, Jing-Ruey Yeh, Randall T. Peterson, Othon Iliopoulos
Journal of Clinical Investigation.2015; 125(5): 1987. CrossRef
Molecular and immunologic markers of kidney cancer—potential applications in predictive, preventive and personalized medicine
Amanda Mickley, Olga Kovaleva, Julia Kzhyshkowska, Alexei Gratchev
EPMA Journal.2015;[Epub] CrossRef

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Original Article

Germline Mutations of VHL gene in Korean von Hippel - Lindau Disease Patients: Ki Hyuk Shin, Kyu Joo Park, Soo Woong Kim, Sang Hoon Lee, Sang Eun Lee, Hee Won Jung, Hyun Jip Kim, Jae Gahb Park; J Korean Cancer Assoc. 1996;28(3):544-555.

Abstract PDF: Von Hippel-Lindau(VHL) disease is an autosomal dominant disease characterized by development of different tumors in diverse organs, including hemangioblastoma of the central nervous system, renal cell carcinoma, pheochromocytoma, and pancreatic tumors. The gene responsible for this disease, the VHL gene, was recently cloned and germline mutations of this gene identified in patients with VHL. Using polymerase chain reaction(PCR)-single strand conformation polymorphism(SSCP) analysis followed by DNA sequencing, we were able to identify germline mutations of the VHL gene in two unrelated Korean patients exhibiting typical clinical features of the VHL disease. The mutations identified were 2 base pair deletion at codon l79 in one patient, and a missense mutation at codon 190 in the other. Identification of the germline mutation in VHL gene aids in the accurate presymptomatic diagnosis of the at-risk family members of these patients.

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