Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Suzune Tsukamoto, Sho Koyasu, Akihiko Sugimoto, Mami Matsunaga, Yuji Nakamoto
Summary: A 38-year-old man with VHL disease and history of renal cell carcinoma presented with recurrent epistaxis for 2 months. MRI revealed a microcystic tumor in the left ethmoid sinus with strong contrast enhancement. F-18-FDG PET/CT showed FDG uptake (SUVmax, 4.2) in the lesion. Despite two surgical resections performed under the suspicion of renal cell carcinoma metastasis, the patient was finally diagnosed with a VHL-associated microcystic adenoma of the ethmoid sinus based on morphological and immunohistochemical findings, which is an extremely rare tumor in VHL disease.
CLINICAL NUCLEAR MEDICINE
(2023)
Article
Cell Biology
Kai Guo, Yinghua Wei, Ze Wang, Xiaoli Zhang, Xin Zhang, Xinxin Liu, Wenyong Wu, Zhengsheng Wu, Lingqiang Zhang, Chun-Ping Cui
Summary: OTUD6B plays an important role in regulating the stability of pVHL missense mutants in ccRCC. Low levels of OTUD6B predict poorer survival in ccRCC patients with VHL missense mutations, and depletion of OTUD6B enhances cell migration and HIF-2α levels in ccRCC cells.
CELL DEATH & DISEASE
(2022)
Article
Pharmacology & Pharmacy
Elshad Hasanov, Eric Jonasch
Summary: Von Hippel-Lindau (VHL) disease is a genetic syndrome caused by mutations in the VHL gene, resulting in tumors and cysts in multiple organs. Surgery is the standard treatment for localized tumors, but repeated surgeries lead to significant morbidity. MK-6482, a small-molecule HIF 2 alpha inhibitor, has shown promising efficacy and safety in VHL disease-related tumors.
EXPERT OPINION ON INVESTIGATIONAL DRUGS
(2021)
Article
Andrology
Ziao Li, Jin Zhang, Lei Zhang, Lin Yao, Cuijian Zhang, Zhisong He, Xuesong Li, Liqun Zhou
Summary: The growth rate of sporadic ccRCC appears to be slightly faster than that of VHL-associated ccRCC, although this difference is not statistically significant. There are also differences in the factors affecting the growth rate between the two groups, indicating disparities in growth kinetics between sporadic and VHL-associated ccRCC.
TRANSLATIONAL ANDROLOGY AND UROLOGY
(2021)
Article
Radiology, Nuclear Medicine & Medical Imaging
Pouria Yazdian Anari, Nathan Lay, Nikhil Gopal, Aditi Chaurasia, Safa Samimi, Stephanie Harmon, Fatemeh Dehghani Firouzabadi, Maria J. Merino, Paul Wakim, Evrim Turkbey, Elizabeth C. Jones, Mark W. Ball, Baris Turkbey, W. Marston Linehan, Ashkan A. Malayeri
Summary: In this study, a machine learning algorithm was used to predict the growth rate category of renal tumors in VHL patients based on radiomic features. The results provide a personalized approach for surveillance and surgical planning.
ABDOMINAL RADIOLOGY
(2022)
Article
Cell Biology
Luke J. Nelson, Kyleen E. Castro, Binzhi Xu, Junyi Li, Nguyen B. Dinh, Jordan M. Thompson, Jordan Woytash, Kevin R. Kipp, Olga Razorenova
Summary: The cyclin-dependent kinase inhibitor, Dinaciclib, shows potential as a new targeted therapeutic for clear cell renal cell carcinoma (CC-RCC). In vitro and in vivo experiments demonstrate that Dinaciclib inhibits cell proliferation, induces apoptosis, and suppresses tumor growth in a mouse model. It can target both cancer stem cells and non-cancer stem cells. The therapeutic effect of Dinaciclib is enhanced by the loss of the VHL tumor suppressor gene.
Article
Radiology, Nuclear Medicine & Medical Imaging
Nathan Lay, Pouria Yazdian Anari, Aditi Chaurasia, Fatemeh Dehghani Firouzabadi, Stephanie Harmon, Evrim Turkbey, Rabindra Gautam, Safa Samimi, Maria J. J. Merino, Mark W. W. Ball, William Marston Linehan, Baris Turkbey, Ashkan A. A. Malayeri
Summary: In this study, a new neural network approach called Hinge Forest (HF) was developed to segment kidney and tumor structures on MRI in VHL patients. The results showed that HF outperformed traditional U-Net architecture in ccRCC tumor segmentation. The leaf maps generated by HF provided hints about deep learning features that could be useful in other automated tasks.
Article
Oncology
Kristian B. Laursen, Qiuying Chen, Francesca Khani, Nabeel Attarwala, Steve S. Gross, Lukas Dow, David M. Nanus, Lorraine J. Gudas
Summary: The study investigated the role of mitochondrial Ndufa4l2 protein in the development of ccRCC using a transgenic mouse model and found that targeted knockdown of Ndufa4l2 can slow down renal lipid accumulation and reduce the expression of ccRCC markers.
FRONTIERS IN ONCOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Thomas Kalantzakos, Kailey Hooper, Sanjna Das, Travis Sullivan, David Canes, Alireza Moinzadeh, Kimberly Rieger-Christ
Summary: The incidence of clear cell renal cell carcinoma (ccRCC) has been increasing in recent years, and there is a strong association between differential microRNA (miRNA) expression and neoplastic progression. Specifically, overexpression of miR-155-5p has been linked to aggressive cancer in ccRCC and other cancers. This study investigates the role of miR-155-5p and its protein target, Jade-1, to better understand the mechanism behind aggressive forms of ccRCC.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Oncology
Antonella Falconieri, Giovanni Minervini, Federica Quaglia, Geppo Sartori, Silvio C. E. Tosatto
Summary: The von Hippel-Lindau (pVHL) tumor suppressor plays a crucial role in regulating cell adaptation to low oxygen concentrations and is also involved in testis development and sperm maturation. Through a testis-specific library screening, 55 novel proteins that interact with pVHL were identified, many of which are involved in metabolic pathways frequently altered in cancer. The findings suggest that pVHL may be important for normal gonadal development in humans.
Review
Oncology
Alessandra Cinque, Roberto Minnei, Matteo Floris, Francesco Trevisani
Summary: This review summarizes the new molecular perspectives and biomarkers of VHL-associated hereditary ccRCC, as well as the overlap with sporadic ccRCC.
Article
Biochemistry & Molecular Biology
Wuping Yang, Jingcheng Zhou, Zedan Zhang, Kenan Zhang, Yawei Xu, Lei Li, Lin Cai, Yanqing Gong, Kan Gong
Summary: APCDD1L-AS1 inhibits the progression of ccRCC and its reduced expression could be caused by DNA hypermethylation and loss of VHL protein expression. Therefore, APCDD1L-AS1 may serve as a new therapeutic target in the treatment of ccRCC.
INTERNATIONAL JOURNAL OF BIOLOGICAL SCIENCES
(2022)
Article
Oncology
Shachar Laks, Rachel van Leeuwaarde, Dhaval Patel, Xavier M. Keutgen, Pascal Hammel, Naris Nilubol, Thera P. Links, Thorvardur R. Halfdanarson, Anthony B. Daniels, Amit Tirosh
Summary: This report summarizes the discussion and recommendations by a group of experts on the pancreatic manifestations of Von Hippel-Lindau disease (VHL). The recommendations were based on a comprehensive systematic review of the literature and panel discussions, providing guidance on clinical surveillance and management of VHL-related pancreatic manifestations.
Review
Oncology
Vivek Narayan, Eric Jonasch
Summary: This review discusses the development of systemic anti-neoplastic therapies for von Hippel-Lindau disease patients and the recent approval of the first systemic agent for this disease. Improved understanding of the disease and its biology has led to the successful development of anti-cancer agents, particularly for advanced renal cell carcinoma treatment. Challenges and opportunities for future VHL systemic therapy are highlighted.
Article
Oncology
Satish Maharaj, Karan Seegobin, Kristina Wakeman, Simone Chang, Kevin Potts, Brian Williams, Rebecca Redman
Summary: Sinonasal renal cell-like adenocarcinoma (SNRCLA) is a rare and relatively novel diagnosis. This study reports a case of SNRCLA in a 35-year-old African-American male with von Hippel Lindau (VHL) syndrome. Next generation sequencing detected a possible driver mutation, MST1R, in this case associated with VHL syndrome. Further research is needed to understand the underlying biology of this unique tumor.
