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First-Line sunitinib in patients with renal cell carcinoma (RCC) in von Hippel–Lindau (VHL) disease: clinical outcome and patterns of radiological response

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Abstract

von Hippel–Lindau (VHL) is a rare hereditary condition caused by germline alteration of VHL gene predisposing to renal carcinoma and multiple other tumors. Since acquired dysregulation of VHL-dependent pathways is often present in patients with sporadic RCC treated with the anti-angiogenic drug sunitinib, there is a strong rationale to use the same drug in VHL patients with progressive disease in the kidneys or other sites. Our primary objective was to evaluate the activity of sunitinib in terms of progression-free survival. Secondary objectives: rate of radiological response, patterns of responses in different organs, treatment-related toxicities. We performed a retrospective analysis of sunitinib therapy in genetically-confirmed VHL patients treated at our Institution for multifocal or advanced RCC. From February 2007 to July 2012, 14 VHL patients started first-line sunitinib for recurrent or progressing RCC, mean age 48 years (27–71). Nine patients achieved a partial RECIST response (64.3 %); responses were noted not only in renal and hepatic lesions but also in pancreatic nodules. Most lesions showed density reduction, while all CNS haemangioblastoma lesions remained stable. At a median follow-up of 37 months, six patients have progressed and three patients died, with a progression-free rate at 2 years of 71.4 %. Sunitinib may therefore achieve a fairly good disease control in VHL patients. Radiological responses may be obtained not only in renal tumors but also in synchronous VHL-related lesions, especially pancreatic solid nodules whose exact nature (metastatic RCC or neuroendocrine tumor) cannot be ruled out without invasive biopsy.

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Acknowledgments

This work was supported in part by Regione Veneto (Healthcare Finalized Research 2012).

Conflict of interest

UB and VZ received honoraria from Pfizer.

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Authors and Affiliations

  1. Medical Oncology 1 Unit, Istituto Oncologico Veneto IOV - IRCCS, Via Gattamelata 64, 35128, Padua, Italy

    Anna Roma, Marco Maruzzo, Umberto Basso, Antonella Brunello & Vittorina Zagonel

  2. Molecular Immunology and Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, via Gattamelata 64, 35128, Padua, Italy

    Rita Zamarchi

  3. Radiology Unit, Istituto Oncologico Veneto IOV - IRCCS, via Gattamelata 64, 35128, Padua, Italy

    Elisabetta Bezzon & Fabio Pomerri

  4. Familial Cancer Clinics Unit, Istituto Oncologico Veneto IOV - IRCCS, via Gattamelata 64, 35128, Padua, Italy

    Stefania Zovato

  5. Familial Cancer Clinics Unit, Department of Medicine - DIMED, Istituto Oncologico Veneto IOV - IRCCS, University of Padova, via Gattamelata 64, 35128, Padua, Italy

    Giuseppe Opocher

Authors
  1. Anna Roma
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  2. Marco Maruzzo
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Correspondence to Umberto Basso.

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Roma, A., Maruzzo, M., Basso, U. et al. First-Line sunitinib in patients with renal cell carcinoma (RCC) in von Hippel–Lindau (VHL) disease: clinical outcome and patterns of radiological response. Familial Cancer 14, 309–316 (2015). https://doi.org/10.1007/s10689-014-9771-y

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  • DOI: https://doi.org/10.1007/s10689-014-9771-y

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