Clinical, surgical, pathological and follow-up features of kidney cancer patients with Von Hippel-Lindau syndrome: novel insights from a large consortium.
Adrenal Gland Neoplasms
/ epidemiology
Adult
Central Nervous System Diseases
/ epidemiology
Disease Progression
Europe
/ epidemiology
Eye Diseases
/ epidemiology
Female
Follow-Up Studies
Humans
Kidney Neoplasms
/ epidemiology
Male
Mutation
Neoplasm Grading
Nephrectomy
/ adverse effects
Pancreatic Diseases
/ epidemiology
Pheochromocytoma
/ epidemiology
Postoperative Period
Survival Analysis
Tumor Burden
Von Hippel-Lindau Tumor Suppressor Protein
/ genetics
von Hippel-Lindau Disease
/ epidemiology
Hereditary
Kidney cancer
Nephrectomy
Renal cancer
Von Hippel-Lindau
Journal
World journal of urology
ISSN: 1433-8726
Titre abrégé: World J Urol
Pays: Germany
ID NLM: 8307716
Informations de publication
Date de publication:
Aug 2021
Aug 2021
Historique:
received:
14
07
2020
accepted:
15
12
2020
pubmed:
9
1
2021
medline:
11
1
2022
entrez:
8
1
2021
Statut:
ppublish
Résumé
To investigate the natural history and follow-up after kidney tumor treatment of Von Hippel-Lindau (VHL) patients. A multi-institutional European consortium of patients with VHL syndrome included 96 non-metastatic patients treated at 9 urological departments (1987-2018). Descriptive and survival analyses were performed. Median age at VHL diagnosis was 34 years (IQR 25-43). Two patients (2.1%) showed only renal manifestations at VHL diagnosis. Concomitant involvement of Central Nervous System (CNS) vs. pancreas vs. eyes vs. adrenal gland vs. others were present in 60.4 vs. 68.7 vs. 30.2 vs. 15.6 vs. 15.6% of patients, respectively. 45% of patients had both CNS and pancreatic diseases alongside kidney. The median interval between VHL diagnosis and renal cancer treatment resulted 79 months (IQR 0-132), and median index tumor size leading to treatment was 35.5 mm (IQR 28-60). Of resected malignant tumours, 73% were low grade. Of high-grade tumors, 61.1% were large > 4 cm. With a median follow-up of 8 years, clinical renal progression rate was 11.7% and 29.3% at 5 and 10 years, respectively. Overall mortality was 4% and 7.5% at 5 and 10 years, respectively. During the follow-up, 50% of patients did not receive a second active renal treatment. Finally, 25.3% of patients had CKD at last follow-up. Mean period between VHL diagnosis and renal cancer detection is roughly three years, with significant variability. Although, most renal tumors are small low-grade, clinical progression and mortality are not negligible. Moreover, kidney function represents a key issue in VHL patients.
Identifiants
pubmed: 33416974
doi: 10.1007/s00345-020-03574-5
pii: 10.1007/s00345-020-03574-5
doi:
Substances chimiques
Von Hippel-Lindau Tumor Suppressor Protein
EC 2.3.2.27
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2969-2975Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH, DE part of Springer Nature.
Références
Varshney N, Kebede AA, Owusu-Dapaah H et al (2017) A review of Von Hippel-Lindau syndrome. J Kidney Cancer VHL 4(3):20
doi: 10.15586/jkcvhl.2017.88
Carlo MI, Hakimi AA, Stewart GD et al (2019) Familial kidney cancer: implications of new syndromes and molecular insights. EurUrol 76(6):754–764
Bratslavsky G, Sudarshan S, Neckers L et al (2007) Pseudohypoxic pathways in renal cell carcinoma. Clin Cancer Res 13(16):4667–4671
doi: 10.1158/1078-0432.CCR-06-2510
Capitanio U, Montorsi F (2016) Seminar renal cancer. Lancet 387:894–906
doi: 10.1016/S0140-6736(15)00046-X
Ljungberg B, Albiges L, Abu-Ghanem Y et al (2019) European Association of Urology Guidelines on renal cell carcinoma: the 2019 update. EurUrol 75:799–810
Paner GP, Stadler WM, Hansel DE et al (2018) Updates in the eighth edition of the tumor-node-metastasis staging classification for urologic cancers. EurUrol 73(4):560–569
Levey AS, Stevens LA, Schmid CH et al (2009) A new equation to estimate glomerular filtration rate. Ann Intern Med 150(9):604–612
doi: 10.7326/0003-4819-150-9-200905050-00006
Capitanio U, Bensalah K, Bex A et al (2019) Epidemiology of renal cell carcinoma. EurUrol 75:74–84. https://doi.org/10.1016/j.eururo.2018.08.036
doi: 10.1016/j.eururo.2018.08.036
Duffey BG, Choyke PL, Glenn G et al (2004) The relationship between renal tumor size and metastases in patients with Von Hippel-Lindau disease. J Urol 172(1):63–65
doi: 10.1097/01.ju.0000132127.79974.3f
Mir MC, Capitanio U, Bertolo R et al (2018) Role of active surveillance for localized small renal masses. EurUrol Oncol 1:177–187. https://doi.org/10.1016/j.euo.2018.05.001
doi: 10.1016/j.euo.2018.05.001
Herring JC, Enquist EG, Chernoff A et al (2001) Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience. J Urol 165(3):777–781
doi: 10.1016/S0022-5347(05)66524-X
Duffey BG, Choyke PL, Glenn G, et al (2005) Re: The relationship between renal tumor size and metastases in patients with von Hippel-Lindau disease [1] (multiple letters). J Urol
Peng X, Chen J, Wang J et al (2019) Natural history of renal tumours in von Hippel-Lindau disease: a large retrospective study of Chinese patients. J Med Genet 56(6):380–387
doi: 10.1136/jmedgenet-2018-105567
Jonasch E, McCutcheon IE, Gombos DS et al (2018) Pazopanib in patients with von Hippel-Lindau disease: a single-arm, single-centre, phase 2 trial. Lancet Oncol 19(10):1351–1359
doi: 10.1016/S1470-2045(18)30487-X
Jonasch E, McCutcheon IE, Waguespack SG et al (2011) Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease. Ann Oncol 22(12):2661–2666
doi: 10.1093/annonc/mdr011
Van Rooijen E, Voest EE, Logister I et al (2010) Von Hippel-Lindau tumor suppressor mutants faithfully model pathological hypoxia-driven angiogenesis and vascular retinopathies in zebrafish. Dis Model Mech 3(5–6):343–353
doi: 10.1242/dmm.004036
Neumann HPH, Bender BU, Berger DP et al (1998) Prevalence, morphology and biology of renal cell carcinoma in von Hippel-Lindau disease compared to sporadic renal cell carcinoma. J Urol 160(4):1248–1254
doi: 10.1016/S0022-5347(01)62509-6
Maher ER, Neumann HPH, Richard S (2011) Von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet 19(6):617–623
doi: 10.1038/ejhg.2010.175
Feng X, Zhang L, Tu W et al (2019) Frequency, incidence and survival outcomes of clear cell renal cell carcinoma in the United States from 1973 to 2014: a SEER-based analysis. Medicine (Baltimore) 98:e16684
doi: 10.1097/MD.0000000000016684
Ueno D, Xie Z, Boeke M et al (2018) Genomic heterogeneity and the small renal mass. Clin Cancer Res 24(17):4137–4144
doi: 10.1158/1078-0432.CCR-18-0214
Ball MW, Bezerra SM, Gorin MA et al (2015) Grade heterogeneity in small renal masses: potential implications for renal mass biopsy. J Urol 193(1):36–40
doi: 10.1016/j.juro.2014.06.067
Bishop T, Ratcliffe PJ (2015) HIF hydroxylase pathways in cardiovascular physiology and medicine. Circ Res 117:65–79
doi: 10.1161/CIRCRESAHA.117.305109
Valero E, Rumiz E, Pellicer M (2016) Cardiac involvement in Von Hippel-Lindau disease. Med PrincPract 25:196–198
Wang Z, Wang G, Xia Q et al (2016) Partial nephrectomy vs. radical nephrectomy for renal tumors: a meta-analysis of renal function and cardiovascular outcomes. Urol Oncol Semin Orig Investig 34:533.e11-533.e19. https://doi.org/10.1016/j.urolonc.2016.07.007
doi: 10.1016/j.urolonc.2016.07.007
Capitanio U, Larcher A, Kriegmair MC et al (2019) Do we truly care about the functional outcomes for renal cancer patients? Multidisciplinarity is still far away. Eur Urol 75(2):349–350
doi: 10.1016/j.eururo.2018.08.040