Pd18-03 Natural History of Metastatic Renal Cell Carcinoma (Rcc) Associated With Hereditary Leiomyomatosis and Renal Cell Carcinoma (Hlrcc)

You have accessJournal of UrologyKidney Cancer: Advanced (Including Drug Therapy) II (PD18)1 May 2024PD18-03 NATURAL HISTORY OF METASTATIC RENAL CELL CARCINOMA (RCC) ASSOCIATED WITH HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CARCINOMA (HLRCC) Daniel Nethala, Nityam Rathi, Jason Hyman, Jessica Hsueh, Charles Hesswani, Christopher Koller, Alexander P. Kenigsberg, Neil Mendhiratta, Keith Lawson, Sahil Parikh, William Azar, Kyle Schuppe, Cathy Vocke, Mark W. Ball, Gabriela Bravo Montenegro, Sandeep Gurram, W. Marston Linehan, and Ramaprasad Srinivasan Daniel NethalaDaniel Nethala , Nityam RathiNityam Rathi , Jason HymanJason Hyman , Jessica HsuehJessica Hsueh , Charles HesswaniCharles Hesswani , Christopher KollerChristopher Koller , Alexander P. KenigsbergAlexander P. Kenigsberg , Neil MendhirattaNeil Mendhiratta , Keith LawsonKeith Lawson , Sahil ParikhSahil Parikh , William AzarWilliam Azar , Kyle SchuppeKyle Schuppe , Cathy VockeCathy Vocke , Mark W. BallMark W. Ball , Gabriela Bravo MontenegroGabriela Bravo Montenegro , Sandeep GurramSandeep Gurram , W. Marston LinehanW. Marston Linehan , and Ramaprasad SrinivasanRamaprasad Srinivasan View All Author Informationhttps://doi.org/10.1097/01.JU.0001008596.32809.c5.03AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: HLRCC is an autosomal dominant inherited syndrome caused by a mutation in the Fumarate Hydratase gene. This syndrome is associated with a 15% lifetime incidence of developing an aggressive subtype of papillary RCC that can present at an advanced stage at initial diagnosis. Given its rarity, there is a lack of data regarding the clinical course and presenting patterns of metastatic RCC in this syndrome. This study sought to detail the natural history of patients with metastatic RCC due to HLRCC. METHODS: A retrospective chart review was performed to identify all HLRCC patients with metastatic HLRCC-associated RCC enrolled on clinical trial (NCT00050752) at a single institution. Demographics, clinicopathologic characteristics, clinical course, and therapies used were extracted from the medical record. Overall survival, time to metastasis, and time from metastasis to death were modeled using the Kaplan-Meier method with R v4.3.1. RESULTS: 100 HLRCC patients who ultimately developed metastatic RCC were evaluated from 2003-2023 at a single institution. Median age at initial diagnosis of RCC was 40 years (Range 17-74). A majority presented initially as pT3/4 disease (59%), with 44% and 33% of patients presenting with pN1 and M1 disease respectively. Median time from diagnosis to metastasis was 6.0 months (3.02-8.0 mo 95% Confidence interval (CI)). Common sites of metastasis were non-visceral retroperitoneal and abdominal tumoral deposits (n=79), bone (n=62), non-regional lymph nodes (n=61), and liver (n=54). Of the 82 patients with available data, 25 were Favorable, 51 Intermediate, and 6 Poor IMDC risk at initial metastatic diagnosis. Median number of systemic therapy lines was 3, with bevacizumab and erlotinib (bev/erlot) (51%) as the most common first-line therapy. Time from metastasis to death was significantly longer in patients that received bev/erlot as first line or any line of therapy than those who did not (median 63.2 vs 29.7 months p<0.0001, 52.3 mo vs. 24.2 months p<0.0001 respectively). Median overall survival was 57.4 months (45.1 - 69.1 mo 95% CI). 23% of patients were alive at last follow up. CONCLUSIONS: This study represents the largest cohort of metastatic HLRCC-associated RCC patients to date, with a significant portion of patients presenting with advanced disease at initial diagnosis, with a median overall survival of 57.4 months. Improved understanding of the natural history of this disease state will continue to inform and improve our treatment strategies. Download PPT Source of Funding: This research was supported in part by the Intramural Research Program of the National Cancer Institute, NIH © 2024 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 211Issue 5SMay 2024Page: e432 Advertisement Copyright & Permissions© 2024 by American Urological Association Education and Research, Inc.Metrics Author Information Daniel Nethala More articles by this author Nityam Rathi More articles by this author Jason Hyman More articles by this author Jessica Hsueh More articles by this author Charles Hesswani More articles by this author Christopher Koller More articles by this author Alexander P. Kenigsberg More articles by this author Neil Mendhiratta More articles by this author Keith Lawson More articles by this author Sahil Parikh More articles by this author William Azar More articles by this author Kyle Schuppe More articles by this author Cathy Vocke More articles by this author Mark W. Ball More articles by this author Gabriela Bravo Montenegro More articles by this author Sandeep Gurram More articles by this author W. Marston Linehan More articles by this author Ramaprasad Srinivasan More articles by this author Expand All Advertisement PDF downloadLoading ...