Abstract 4806: The potential impact of a Von Hippel-Lindau clinical care center for patients at the University of Illinois Chicago
Authors: Hippalgaonkar Neha , Drabek Kirsten , Aseem Aseem , Maga Tara , Balay Lara , Pan Vivian , Ganschow Pamela , Tawagi Karine , Awati Neha , Reizine Natalie 
Published: March 2024

Introduction: Von Hippel-Lindau (VHL) is an inherited autosomal dominant cancer syndrome causing early-onset tumors in various organs. It poses high risks of renal cell carcinoma, hemangioblastomas, pheochromocytomas, and paragangliomas among others. VHL can be clinically diagnosed based on the Danish, international, or Dutch guidelines, or through molecular diagnosis by identifying a pathogenic variant in the VHL gene. There is now an FDA-approved HIF-2 alpha inhibitor that is effective for the treatment of VHL-related manifestations, and the identification of eligible patients is paramount to receive this benefit. In addition, the screening recommendations for VHL are extensive and result in significant burden on patients. We suspect that VHL is under-diagnosed in the clinical setting, and we further hypothesize that this burden may contribute to care gaps and disparities in access to VHL-related care.

Methods: This is a single-institution, retrospective study conducted at the University of Illinois Health and Hospitals System (UIH). We assessed the prevalence of patients with VHL-related tumors by examining ICD diagnosis codes from 2010 to 2023. Additionally, we analyzed the subset of these patients who underwent germ-line genetic testing. Furthermore, we examined our cohort of VHL patients more closely to explore the burden of VHL-related care. We examined the time to germ-line genetic and cascade testing from first clinical touchpoint at UIH, as well as the total number of clinical departments accessed at UIH. Demographics, clinical characteristics, germ-line genetic testing results, and information on clinical visits were also collected from those with a molecular or clinical diagnosis of VHL.

Results: We found 9,875 patients with at least one VHL-associated tumor. Among them, 1,379 had two or more VHL-associated tumors, with &lt;2% undergoing germline genetic testing. We identified 10 individuals diagnosed with VHL. Of the ten patients, 30% were black, 30% were white, and 40% self-identified as other. Age of onset for VHL-related screening ranged from 10 to 37 years. All patients diagnosed with VHL underwent germ-line genetic testing, with 60% opting for cascade testing of at-risk family members. Patient care was fragmented, with on average, each VHL patient seeking care from five different UIC clinical departments (range 1-11) and receiving care from multiple separate institutions (range 1-4).

Conclusion: Our data revealed that most patients with VHL-associated tumors did not receive genetic testing, demonstrating a potential missed opportunity for early diagnosis and interventions to improve outcomes for VHL-related disease. Furthermore, our data highlights the clinical burden of VHL, and supports the potential impact of a coordinated care program for these patients.

Citation Format: Neha Hippalgaonkar, Kirsten Drabek, Aseem Aseem, Tara Maga, Lara Balay, Vivian Pan, Pamela Ganschow, Karine Tawagi, Neha Awati, Natalie Reizine. The potential impact of a Von Hippel-Lindau clinical care center for patients at the University of Illinois Chicago [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 4806.