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| Multidisciplinary management of patients diagnosed with von Hippel-Lindau disease: A practical review of the literature for clinicians |
Alessandro Larchera,b,c,Federico Belladellia,b,Giuseppe Fallaraa,b,Isaline Rowea,b,Umberto Capitanioa,b,Laura Marandinoa,d,Daniele Raggia,d,Jody Filippo Capitanioa,e,Michele Bailoa,c,e,Rosangela Lattanzioa,f,Costanza Barresia,f,Sonia Francesca Callonia,g,Maurizio Barberaa,g,Valentina Andreasia,c,h,Giorgia Guazzarottia,i,Giovanni Pipitonea,Paola Carreraa,Andrea Necchia,c,d,Pietro Mortinia,c,e,Francesco Bandelloa,c,f,Andrea Saloniaa,b,c,*( )
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aOspedale San Raffaele VHL Research Program, Milan, Italy
bURI-Urological Research Institute, Department of Urology, Division of Experimental Oncology, IRCCS Ospedale San Raffaele, Milan, Italy
cUniversità Vita-Salute San Raffaele, Milan, Italy
dDepartment of Oncology, IRCCS Ospedale San Raffaele, Milan, Italy
eDepartment of Neurosurgery, IRCCS Ospedale San Raffaele, Milan, Italy
fDepartment of Ophthalmology, IRCCS Ospedale San Raffaele, Milan, Italy
gDepartment of Neuroradiology, IRCCS Ospedale San Raffaele, Milan, Italy
hPancreas Translational & Clinical Research Center, OSR ENETS Center of Excellence, Unit of Pancreatic Surgery, IRCCS Ospedale San Raffaele, Milan, Italy
iDepartment of Radiology, IRCCS Ospedale San Raffaele, Milan, Italy
jService of Laboratory Medicine, Molecular Genetics Service and Clinical Genomics |
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Abstract Objective: The aim of the current review is to summarize the available evidence to aid clinicians in the surveillance, treatment and follow-up of the different primary tumors developed by patients diagnosed with von Hippel-Lindau (VHL) syndrome. Methods: A non-systematic narrative review of original articles, meta-analyses, and randomized trials was conducted, including articles in the pre-clinical setting to support relevant findings. Results: VHL disease is the most common rare hereditary disorder associated with clear cell renal cell carcinoma. Affected individuals inherit a germline mutation in one VHL allele, and any somatic event that disrupt the other allele can trigger mutations, chromosomal rearrangements, or epigenetic regulations leading to oncogenesis. From a clinical perspective, patients continuously develop multiple primary tumors. Conclusion: Because VHL is considered a rare disease, very limited evidence is available for diagnosis, surveillance, active treatment with local or systemic therapy and follow-up.
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Received: 09 March 2022
Available online: 20 October 2022
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Corresponding Authors:
Andrea Salonia
E-mail: salonia.andrea@hsr.it
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Two retinal capillary hemangioblastomas with dilated and tortuous feeding and draining vessels.
|
| [1] |
Varshney N, Kebede AA, Owusu-Dapaah H, Lather J, Kaushik M, Bhullar JS. A review of von Hippel-Lindau syndrome. J Kidney Cancer VHL 2017; 4:20e9.
|
| [2] |
Ball MW, An JY, Gomella PT, Gautam R, Ricketts CJ, Vocke CD, et al. Growth rates of genetically defined renal tumors: implications for active surveillance and intervention. J Clin Oncol 2020; 38:1146e53.
|
| [3] |
Considine B, Hurwitz ME. Current status and future directions of immunotherapy in renal cell carcinoma. Curr Oncol Rep 2019; 21:34. https://doi.org/10.1007/s11912-019-0779-1.
doi: 10.1007/s11912-019-0779-1
pmid: 30848378
|
| [4] |
Capitanio U, Montorsi F. Renal cancer. Lancet Lond Engl 2016; 387:894e906.
|
| [5] |
Lonser RR, Glenn GM, Walther M, Chew EY, Libutti SK, Linehan WM, et al. von Hippel-Lindau disease. Lancet 2003; 361:2059e67.
|
| [6] |
Binderup MLM, Jensen AM, Budtz-J?rgensen E, Bisgaard ML. Survival and causes of death in patients with von Hippel-Lindau disease. J Med Genet 2017; 54:11e8.
|
| [7] |
Zhou B, Wang J, Liu S, Peng X, Hong B, Zhou J, et al. Hemangioblastoma instead of renal cell carcinoma plays a major role in the unfavorable overall survival of von Hippel-Lindau disease patients. Front Oncol 2019; 9:1037. https://doi.org/10.3389/fonc.2019.01037.
doi: 10.3389/fonc.2019.01037
pmid: 31649892
|
| [8] |
Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, et al. The 2021 WHO classification of tumors of the central nervous system: a summary. Neuro Oncol 2021; 23:1231e51.
|
| [9] |
Aksu G, Ulutin C, Fayda M, Saynak M. Cerebellar and multiple spinal hemangioblastomas and intraventricular meningioma managed with subtotal resection and external beam radiotherapy; report of a case with literature review. J BUON 2005; 10:405e9.
|
| [10] |
Neumann HP, Eggert HR, Weigel K, Friedburg H, Wiestler OD, Schollmeyer P. Hemangioblastomas of the central nervous system. A 10-year study with special reference to von Hippel-Lindau syndrome. J Neurosurg 1989; 70:24e30.
|
| [11] |
Wanebo JE, Lonser RR, Glenn GM, Oldfield EH. The natural history of hemangioblastomas of the central nervous system in patients with von Hippel-Lindau disease. J Neurosurg 2003; 98:82e94.
|
| [12] |
van der Horst-Schrivers ANA, Sluiter WJ, Kruizinga RC, van Leeuwaarde RS, Giles R, Olderode-Berends MJW, et al. The incidence of consecutive manifestations in von Hippel-Lindau disease. Fam Cancer 2019; 18:369e76.
|
| [13] |
Liu Z, Zhou J, Li L, Yi Z, Lu R, Li C, et al. Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with von Hippel-Lindau disease: case report. BMC Med Genet 2020; 21:191. https://doi.org/10.1186/s12881-020-01126-7.
|
| [14] |
Wiesener MS, Seyfarth M, Warnecke C, Jürgensen JS, Rosenberger C, Morgan NV, et al. Paraneoplastic erythrocytosis associated with an inactivating point mutation of the von Hippel-Lindau gene in a renal cell carcinoma. Blood 2002; 99:3562e5.
|
| [15] |
Capitanio JF, Mazza E, Motta M, Mortini P, Reni M. Mechanisms, indications and results of salvage systemic therapy for sporadic and von Hippel-Lindau related hemangioblastomas of the central nervous system. Crit Rev Oncol Hematol 2013; 86:69e84.
|
| [16] |
Gl?sker S, Berlis A, Pagenstecher A, Vougioukas VI, Van Velthoven V. Characterization of hemangioblastomas of spinal nerves. Neurosurgery 2005; 56:503e9.
|
| [17] |
Choyke PL, Glenn GM, Walther MM, Patronas NJ, Linehan WM, Zbar B. von Hippel-Lindau disease: genetic, clinical, and imaging features. Radiology 1995; 194:629e42.
|
| [18] |
Haddad NMN, Cavallerano JD, Silva PS. Von Hippel-Lindau disease: a genetic and clinical review. Semin Ophthalmol 2013; 28:377e86.
|
| [19] |
Butman JA, Linehan WM, Lonser RR. Neurologic manifestations of von Hippel-Lindau disease. JAMA 2008; 300: 1334e42.
|
| [20] |
Mills SA, Oh MC, Rutkowski MJ, Sughrue ME, Barani IJ, Parsa AT. Supratentorial hemangioblastoma: clinical features, prognosis, and predictive value of location for von Hippel-Lindau disease. Neuro Oncol 2012; 14:1097e104.
|
| [21] |
Alvarez R, Mastorakos P, Hogan E, Scott G, Lonser RR, Wiley HE, et al. Retrobulbar hemangioblastomas in von Hippel-Lindau disease: clinical course and management. Neurosurgery 2021; 88:1012e20.
|
| [22] |
Chu BC, Terae S, Hida K, Furukawa M, Abe S, Miyasaka K. MR findings in spinal hemangioblastoma: correlation with symptoms and with angiographic and surgical findings. AJNR Am J Neuroradiol 2001; 22:206e17.
|
| [23] |
Blaty D, Malos M, Palmrose T, McGirr S. Sporadic intradural extramedullary hemangioblastoma of the cauda equina: case report and literature review. World Neurosurg 2018; 109: 436e41.
|
| [24] |
Osborn A. Diagnostic imaging: brain. London: Elsevier; 2016. p. 593.
|
| [25] |
Apaydin M, Varer M, Oztekin O. Radiological considerations in von Hippel-Lindeau disease: imaging findings and the review of the literature. Radiol Oncol 2010; 44:164e7.
|
| [26] |
Pan L, Wang EM, Wang BJ, Zhou LF, Zhang N, Cai PW, et al. Gamma knife radiosurgery for hemangioblastomas. Stereotact Funct Neurosurg 1998 ;70(Suppl. 1):179e86.
|
| [27] |
Ruppert MD, Gavin M, Mitchell KT, Peiris AN. Ocular manifestations of von Hippel-Lindau disease. Cureus 2019; 11: e5319. https://doi.org/10.7759/cureus.5319.
|
| [28] |
Karimi S, Arabi A, Shahraki T, Safi S. Von Hippel-Lindau disease and the eye. J Ophthalmic Vis Res 2020; 15:78e94.
|
| [29] |
Atik SS?, Solmaz AE, ?ztas? Z, E_grilmez ED, U_gurlu S?, Atik T, et al. Von Hippel-Lindau disease: the importance of retinal hemangioblastomas in diagnosis. Turk J Ophthalmol 2017; 47: 180e3.
|
| [30] |
Maher ER, Neumann HPH, Richard S. Von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet 2011; 19:617e23.
|
| [31] |
Chew MY. Ocular manifestations of von Hippel-Lindau disease: clinical and genetic investigations. Trans Am Ophthalmol Soc 2005; 103:495e511.
|
| [32] |
Webster AR, Maher ER, Moore AT. Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol 1999; 117: 371e8.
|
| [33] |
Wong WT, Agrón E, Coleman HR, Tran T, Reed GF, Csaky K, et al. Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease. Ophthalmology 2008; 115:181e8.
|
| [34] |
Binderup MLM, Stendell AS, Galanakis M, M?ller HU, Kiilgaard JF, Bisgaard ML. Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. Br J Ophthalmol 2018; 102:942e7.
|
| [35] |
Grossniklaus HE, Thomas JW, Vigneswaran N, Jarrett 3rd WH. Retinal hemangioblastoma. A histologic, immunohistochemical, and ultrastructural evaluation. Ophthalmology 1992; 99: 140e5.
|
| [36] |
Annesley WHJ, Leonard BC, Shields JA, Tasman WS. Fifteen year review of treated cases of retinal angiomatosis. Trans Sect Ophthalmol Am Acad Ophtalmol Otolaryngol 1977; 83(<W>3 Pt 1):OP446e53. PMID: 888257.
|
| [37] |
Chan CC, Collins ABD, Chew EY. Molecular pathology of eyes with von Hippel-Lindau (VHL) disease: a review. Retina 2007; 27:1e7.
|
| [38] |
Wiley HE, Krivosic V, Gaudric A, Gorin MB, Shields C, Shields J, et al. Management of retinal hemangioblastoma in von Hippel-Lindau disease. Retina 2019; 39:2254e63.
|
| [39] |
Whitson JT, Welch RB, Green WR. Von Hippel-Lindau disease: case report of a patient with spontaneous regression of a retinal angioma. Retina 1986; 6:253e9.
|
| [40] |
Chen S, Chew EY, Chan CC. Pathology characteristics of ocular von Hippel-Lindau disease with neovascularization of the iris and cornea: a case report. J Med Case Rep 2015; 9:66. https://doi.org/10.1186/s13256-015-0539-2.
|
| [41] |
Mansfield Smith S, Makam R, Sullivan L, Sandford R, Allen L. Is ultra wide-field retinal imaging alone appropriate for retinal angioma screening in lower risk subjects attending von Hippel-Lindau (VHL) clinics. Ophthalmic Genet 2019; 40: 403e6.
|
| [42] |
Chin EK, Trikha R, Morse LS, Zawadzki RJ, Werner JS, Park SS. Optical coherence tomography findings of exophytic retinal capillary hemangiomas of the posterior pole. Ophthalmic Surg Laser Imag 2010:1e5.
|
| [43] |
Pilotto E, Nacci EB, Ferrara AM, De Mojà G, Zovato S, Midena E. Macular perfusion impairment in von Hippel-Lindau disease suggests a generalized retinal vessel alteration. J Clin Med 2020; 9:2677. https://doi.org/10.3390/jcm9082677.
|
| [44] |
Lu Y, Wang JC, Zeng R, Nagata T, Katz R, Mukai S, et al. Detection of retinal microvascular changes in von Hippel-Lindau disease using optical coherence tomography angiography. PLoS One 2020; 15:e0229213. https://doi.org/10.1371/journal.pone.0229213.
|
| [45] |
Krivosic V, Kamami-Levy C, Jacob J, Richard S, Tadayoni R, Gaudric A. Laser photocoagulation for peripheral retinal capillary hemangioblastoma in von Hippel-Lindau disease. Ophthalmol Retina 2017; 1:59e67.
|
| [46] |
Blodi CF, Russell SR, Pulido JS, Folk JC. Direct and feeder vessel photocoagulation of retinal angiomas with dye yellow laser. Ophthalmology 1990; 97:791e7.
|
| [47] |
Shields JA. Response of retinal capillary hemangioma to cryotherapy. Arch Ophthalmol 1993; 111:551. https://doi.org/10.1001/archopht.1993.01090040143049.
doi: 10.1001/archopht.1993.01090040143049
|
| [48] |
Gaudric A, Krivosic V, Duguid G, Massin P, Giraud S, Richard S. Vitreoretinal surgery for severe retinal capillary hemangiomas in von Hippel-Lindau disease. Ophthalmology 2011; 118: 142e9.
|
| [49] |
Singh AD, Nouri M, Shields CL, Shields JA, Perez N. Treatment of retinal capillary hemangioma. Ophthalmology 2002; 109: 1799e806.
|
| [50] |
Slim E, Antoun J, Kourie HR, Schakkal A, Cherfan G. Intravitreal bevacizumab for retinal capillary hemangioblastoma: a case series and literature review. Can J Ophthalmol 2014; 49:450e7.
|
| [51] |
Agarwal A, Kumari N, Singh R. Intravitreal bevacizumab and feeder vessel laser treatment for a posteriorly located retinal capillary hemangioma. Int Ophthalmol 2016; 36:747e50.
|
| [52] |
Wong WT, Liang KJ, Hammel K, Coleman HR, Chew EY. Intravitreal ranibizumab therapy for retinal capillary hemangioblastoma related to von Hippel-Lindau disease. Ophthalmology 2008; 115:1957e64.
|
| [53] |
Huang C, Tian Z, Lai K, Zhong X, Zhou L, Xu F, et al. Longterm therapeutic outcomes of photodynamic therapy-based or photocoagulation-based treatments on retinal capillary hemangioma. Photomed Laser Surg 2018; 36:10e7.
|
| [54] |
Keutgen XM, Hammel P, Choyke PL, Libutti SK, Jonasch E, Kebebew E. Evaluation and management of pancreatic lesions in patients with von Hippel-Lindau disease. Nat Rev Clin Oncol 2016; 13:537e49.
|
| [55] |
Sharma A, Mukewar S, Vege SS. Clinical profile of pancreatic cystic lesions in von Hippel-Lindau disease: a series of 48 patients seen at a tertiary institution. Pancreas 2017; 46: 948e52.
|
| [56] |
Howe JR, Merchant NB, Conrad C, Keutgen XM, Hallet J, Drebin JA, et al. The North American Neuroendocrine Tumor Society consensus paper on the surgical management of pancreatic neuroendocrine tumors. Pancreas 2020; 49:1e33.
|
| [57] |
Hough DM, Stephens DH, Johnson CD, Binkovitz LA. Pancreatic lesions in von Hippel-Lindau disease: prevalence, clinical significance, and CT findings. AJR Am J Roentgenol 1994; 162: 1091e4.
|
| [58] |
Hammel PR, Vilgrain V, Terris B, Penfornis A, Sauvanet A, Correas JM, et al. Pancreatic involvement in von Hippel-Lindau disease. The Groupe Francophone d’Etude de la Maladie de von Hippel-Lindau. Gastroenterology 2000; 119:1087e95.
|
| [59] |
Laks S, van Leeuwaarde R, Patel D, Keutgen XM, Hammel P, Nilubol N, et al. Management recommendations for pancreatic manifestations of von Hippel-Lindau disease. Cancer 2022; 128:435e46.
|
| [60] |
Blansfield JA, Choyke L, Morita SY, Choyke PL, Pingpank JF, Alexander HR, et al. Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs). Surgery 2007; 142:812e4.
|
| [61] |
Ganeshan D, Menias CO, Pickhardt PJ, Sandrasegaran K, Lubner MG, Ramalingam P, et al. Tumors in von Hippel-Lindau syndrome: from head to toedcomprehensive stateof-the-art review. Radiographics 2018; 38:849e66.
|
| [62] |
Tamura K, Nishimori I, Ito T, Yamasaki I, Igarashi H, Shuin T. Diagnosis and management of pancreatic neuroendocrine tumor in von Hippel-Lindau disease. World J Gastroenterol 2010; 16:4515e8.
|
| [63] |
Karsdorp N, Elderson A, Wittebol-Post D, Hené RJ, Vos J, Feldberg MA, et al. Von Hippel-Lindau disease: new strategies in early detection and treatment. Am J Med 1994; 97: 158e68.
|
| [64] |
Hes FJ, Feldberg MA. Von Hippel-Lindau disease: strategies in early detection (renal-, adrenal-, pancreatic masses). Eur Radiol 1999; 9:598e610.
|
| [65] |
Marcos HB, Libutti SK, Alexander HR, Lubensky IA, Bartlett DL, Walther MM, et al. Neuroendocrine tumors of the pancreas in von Hippel-Lindau disease: spectrum of appearances at CT and MR imaging with histopathologic comparison. Radiology 2002; 225:751e8.
|
| [66] |
Taouli B, Ghouadni M, Corréas JM, Hammel P, Couvelard A, Richard S, et al. Spectrum of abdominal imaging findings in von Hippel-Lindau disease. AJR Am J Roentgenol 2003; 181: 1049e54.
|
| [67] |
Satoh K, Sadowski SM, Dieckmann W, Quezado M, Nilubol N, Kebebew E, et al. 18F-FDG PET/CT volumetric parameters are associated with tumor grade and metastasis in pancreatic neuroendocrine tumors in von Hippel-Lindau disease. Ann Surg Oncol 2016 ;23(Suppl 5):714e21. https://doi.org/10.1245/s10434-016-5541-4.
|
| [68] |
Shell J, Tirosh A, Millo C, Sadowski SM, Assadipour Y, Green P, et al. The utility of 68Gallium-DOTATATE PET/CT in the detection of von Hippel-Lindau disease associated tumors. Eur J Radiol 2019; 112:130e5.
|
| [69] |
Kruizinga RC, Sluiter WJ, de Vries EGE, Zonnenberg Bernard A, Lips CJ, van der Horst-Schrivers ANA, et al. Calculating optimal surveillance for detection of von Hippel-Lindaurelated manifestations. Endocr Relat Cancer 2014; 21:63e71.
|
| [70] |
Tirosh A, Journy N, Folio LR, Lee C, Leite C, Yao J, et al. Cumulative radiation exposures from CT screening and surveillance strategies for von Hippel-Lindau-associated solid pancreatic tumors. Radiology 2019; 290:116e24.
|
| [71] |
de Mestier L, Gaujoux S, Cros J, Hentic O, Vullierme M-P, Couvelard A, et al. Long-term prognosis of resected pancreatic neuroendocrine tumors in von Hippel-Lindau disease is favorable and not influenced by small tumors left in place. Ann Surg 2015; 262:384e8.
|
| [72] |
Medina DC, Osorno R, Boutros CN. Biliary and gastric drainage in advanced pancreatic serous cystadenoma and portal hypertension in von Hippel-Lindau syndrome. J Gastrointest Oncol 2014; 5:E50e3. https://doi.org/10.3978/j.issn.2078-6891.2014.017.
|
| [73] |
Penitenti F, Landoni L, Scardoni M, Piredda ML, Cingarlini S, Scarpa A, et al. Clinical presentation, genotype-phenotype correlations, and outcome of pancreatic neuroendocrine tumors in von Hippel-Lindau syndrome. Endocrine 2021; 74: 180e7.
|
| [74] |
Krauss T, Ferrara AM, Links TP, Wellner U, Bancos I, Kvachenyuk A, et al. Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors. Endocr Relat Cancer 2018; 25:783e93.
|
| [75] |
Tirosh A, Sadowski SM, Linehan WM, Libutti SK, Patel D, Nilubol N, et al. Association of VHL genotype with pancreatic neuroendocrine tumor phenotype in patients with von Hippel-Lindau disease. JAMA Oncol 2018; 4:124e6.
|
| [76] |
Partelli S, Bartsch DK, Capdevila J, Chen J, Knigge U, Niederle B, et al. ENETS consensus guidelines for standard of care in neuroendocrine tumours: surgery for small intestinal and pancreatic neuroendocrine tumours. Neuroendocrinology 2017; 105:255e65.
|
| [77] |
Pavel M, O’Toole D, Costa F, Capdevila J, Gross D, Kianmanesh R, et al. ENETS consensus guidelines update for the management of distant metastatic disease of intestinal, pancreatic, bronchial neuroendocrine neoplasms (NEN) and NEN of unknown primary site. Neuroendocrinology 2016; 103: 172e85.
|
| [78] |
Jonasch E, McCutcheon IE, Gombos DS, Ahrar K, Perrier ND, Liu D, et al. Pazopanib in patients with von Hippel-Lindau disease: a single-arm, single-centre, phase 2 trial. Lancet Oncol 2018; 19:1351e9.
|
| [79] |
Metelo AM, Noonan H, Iliopoulos O. HIF2a inhibitors for the treatment of VHL disease. Oncotarget 2015; 6:23036e7.
|
| [80] |
Deeks ED. Belzutifan: first approval. Drugs 2021; 81:1921e7.
|
| [81] |
Munakata M, Aihara A, Imai Y, Noshiro T, Ito S, Yoshinaga K. Altered sympathetic and vagal modulations of the cardiovascular system in patients with pheochromocytoma: their relations to orthostatic hypotension. Am J Hypertens 1999; 12: 572e80.
|
| [82] |
Melmed S, Polonsky KS, Larsen PR, Kronenberg HM. Williams textbook of endocrinology. 12th ed. London: Elsevier; 2011. p. 124.
|
| [83] |
Yu R, Nissen NN, Bannykh SI. Cardiac complications as initial manifestation of pheochromocytoma: frequency, outcome, and predictors. Endocr Pract 2012; 18:483e92.
|
| [84] |
Buffet A, Calsina B, Flores S, Giraud S, Lenglet M, Romanet P, et al. Germline mutations in the new E1’ cryptic exon of the VHL gene in patients with tumours of von Hippel-Lindau disease spectrum or with paraganglioma. J Med Genet 2020; 57: 752e9.
|
| [85] |
Northcutt BG, Raman SP, Long C, Oshmyansky AR, Siegelman SS, Fishman EK, et al. MDCT of adrenal masses: can dual-phase enhancement patterns be used to differentiate adenoma and pheochromocytoma. AJR Am J Roentgenol 2013; 201:834e9.
|
| [86] |
Schieda N, Alrashed A, Flood TA, Samji K, Shabana W, McInnes MDF. Comparison of quantitative MRI and CT washout analysis for differentiation of adrenal pheochromocytoma from adrenal adenoma. AJR Am J Roentgenol 2016; 206: 1141e8.
|
| [87] |
Blake MA, Kalra MK, Maher MM, Sahani DV, Sweeney AT, Mueller PR, et al. Pheochromocytoma: an imaging chameleon. Radiographics 2004; 24(Suppl. 1): S87e99. https://doi.org/10.1148/rg.24si045506.
|
| [88] |
Druker H, Zelley K, McGee RB, Scollon SR, Kohlmann WK, Schneider KA, et al. Genetic counselor recommendations for cancer predisposition evaluation and surveillance in the pediatric oncology patient. Clin Cancer Res 2017; 23:e91e7. https://doi.org/10.1158/1078-0432.CCR-17-0834.
|
| [89] |
Tsirlin A, Oo Y, Sharma R, Kansara A, Gliwa A, Banerji MA. Pheochromocytoma: a review. Maturitas 2014; 77:229e38.
|
| [90] |
Mannelli M. Management and treatment of pheochromocytomas and paragangliomas. Ann N Y Acad Sci 2006; 1073: 405e16.
|
| [91] |
Tauzin-Fin P, Sesay M, Gosse P, Ballanger P. Effects of perioperative alpha1 block on haemodynamic control during laparoscopic surgery for phaeochromocytoma. Br J Anaesth 2004; 92:512e7.
|
| [92] |
Shen WT, Grogan R, Vriens M, Clark OH, Duh QY. One hundred two patients with pheochromocytoma treated at a single institution since the introduction of laparoscopic adrenalectomy. Arch Surg 2010; 145:893e7.
|
| [93] |
Diner EK, Franks ME, Behari A, Linehan WM, Walther MM. Partial adrenalectomy: the national cancer institute experience. Urology 2005; 66:19e23.
|
| [94] |
Akiba M, Kodama T, Ito Y, Obara T, Fujimoto Y. Hypoglycemia induced by excessive rebound secretion of insulin after removal of pheochromocytoma. World J Surg 1990; 14: 317e24.
|
| [95] |
Rednam SP, Erez A, Druker H, Janeway KA, Kamihara J, Kohlmann WK, et al. Von Hippel-Lindau and hereditary pheochromocytoma/paraganglioma syndromes: clinical features, genetics, and surveillance recommendations in childhood. Clin Cancer Res 2017; 23:e68e75. https://doi.org/10.1158/1078-0432.CCR-17-0547.
|
| [96] |
Maher ER. Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management. World J Urol 2018; 36: 1891e8.
|
| [97] |
Sacco E, Pinto F, Sasso F, Racioppi M, Gulino G, Volpe A, et al. Paraneoplastic syndromes in patients with urological malignancies. Urol Int 2009; 83:1e11.
|
| [98] |
Choyke PL, Glenn GM, Walther MM, Zbar B, Weiss GH, Alexander RB, et al. The natural history of renal lesions in von Hippel-Lindau disease: a serial CT study in 28 patients. AJR Am J Roentgenol 1992; 159:1229e34.
|
| [99] |
Levine E, Lee KR, Weigel JW, Farber B. Computed tomography in the diagnosis of renal carcinoma complicating Hippel-Lindau syndrome. Radiology 1979; 130:703e6.
|
| [100] |
Choyke PL, Glenn GM, Walther MM, Zbar B, Linehan WM. Hereditary renal cancers. Radiology 2003; 226:33e46.
|
| [101] |
Tappouni R, Kissane J, Sarwani N, Lehman EB. Pseudoenhancement of renal cysts: influence of lesion size, lesion location, slice thickness, and number of MDCT detectors. AJR Am J Roentgenol 2012; 198:133e7.
|
| [102] |
Patel J, Davenport MS, Cohan RH, Caoili EM. Can established CT attenuation and washout criteria for adrenal adenoma accurately exclude pheochromocytoma. AJR Am J Roentgenol 2013; 201:122e7.
|
| [103] |
Hamilton ZA, Capitanio U, Lane BR, Larcher A, Yim K, Dey S, et al. Should partial nephrectomy be considered “elective” in patients with stage 2 chronic kidney disease? A comparative analysis of functional and survival outcomes after radical and partial nephrectomy. World J Urol 2019; 37:2429e37.
|
| [104] |
Chahoud J, McGettigan M, Parikh N, Boris RS, Iliopoulos O, Rathmell KW, et al. Evaluation, diagnosis and surveillance of renal masses in the setting of VHL disease. World J Urol 2021; 39:2409e15.
|
| [105] |
Capitanio U, Rosiello G, Erdem S, Rowe I, Kara O, Roussel E, et al. Clinical, surgical, pathological and follow-up features of kidney cancer patients with von Hippel-Lindau syndrome: novel insights from a large consortium. World J Urol 2021; 39: 2969e75.
|
| [106] |
Van Poppel H, Da Pozzo L, Albrecht W, Matveev V, Bono A, Borkowski A, et al. A prospective, randomised EORTC intergroup phase 3 study comparing the oncologic outcome of elective nephron-sparing surgery and radical nephrectomy for low-stage renal cell carcinoma. Eur Urol 2011; 59:543e52.
|
| [107] |
Scosyrev E, Messing EM, Sylvester R, Campbell S, Van Poppel H. Renal function after nephron-sparing surgery versus radical nephrectomy: results from EORTC randomized trial 30904. Eur Urol 2014; 65:372e7.
|
| [108] |
De Cobelli F, Papa M, Panzeri M, Colombo M, Steidler S, Ambrosi A, et al. Percutaneous microwave ablation versus cryoablation in the treatment of T1a renal tumors. Cardiovasc Intervent Radiol 2020; 43:76e83.
|
| [109] |
Matin SF, Ahrar K, Wood CG, Daniels M, Jonasch E. Patterns of intervention for renal lesions in von Hippel-Lindau disease. BJU Int 2008; 102:940e5.
|
| [110] |
Jonasch E, McCutcheon IE, Waguespack SG, Wen S, Davis DW, Smith LA, et al. Pilot trial of sunitinib therapy in patients with von Hippel-Lindau disease. Ann Oncol 2011; 22:2661e6.
|
| [111] |
Oudard S, Elaidi R, Brizard M, Rest CL, Caillet V, Deveaux S, et al. 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. Oncotarget 2016; 7:85306e17.
|
| [112] |
Jonasch E. https://clinicaltrials.gov/ct2/show/results/NCT01266070?condZVontHippel-LindautDisease&drawZ2&rankZ10. [Accessed 5 March 2022].
|
| [113] |
Jonasch E, McCutcheon IE, Gombos DS, Ahrar K, Perrier ND, Liu D, et al. Pazopanib in patients with von Hippel-Lindau disease: a single-arm, single-centre, phase 2 trial. Lancet Oncol 2018; 19:1351e9.
|
| [114] |
Jonasch E, Donskov F, Iliopoulos O, Rathmell WK, Narayan VK, Maughan BL, et al. Belzutifan for renal cell carcinoma in von Hippel-Lindau disease. N Engl J Med 2021; 385:2036e46.
|
| [115] |
Binderup MLM, Gimsing S, Kosteljanetz M, Thomsen C, Bisgaard ML. Von Hippel-Lindau disease: deafness due to a non-MRI-visible endolymphatic sac tumor despite targeted screening. Int J Audiol 2013; 52:771e5.
|
| [116] |
Choo D, Shotland L, Mastroianni M, Glenn G, van Waes C, Linehan WM, et al. Endolymphatic sac tumors in von Hippel-Lindau disease. J Neurosurg 2004; 100:480e7.
|
| [117] |
Nevoux J, Nowak C, Vellin JF, Lepajolec C, Sterkers O, Richard S, et al. Management of endolymphatic sac tumors: sporadic cases and von Hippel-Lindau disease. Otol Neurotol 2014; 35:899e904.
|
| [118] |
Muzumdar DP, Goel A, Fattepurkar S, Goel N. Endolymphatic sac carcinoma of the right petrous bone in von Hippel-Lindau disease. J Clin Neurosci 2006; 13:471e4.
|
| [119] |
Friedman RA, Hoa M, Brackmann DE. Surgical management of endolymphatic sac tumors. J Neurol Surg B Skull Base 2013; 74:12e9.
|
| [120] |
van Leeuwaarde RS, Ahmad S, Links TP, Giles RH. Von Hippel-Lindau syndrome. GeneReviews_[Internet]. Seattle: University of Washington; 1993. p. 523. http://www.ncbi.nlm.nih.gov/books/NBK1463/.[Accessed 25 July 2022].
|
|
|
|
