Clinical, surgical, pathological and follow-up features of kidney cancer patients with Von Hippel-Lindau syndrome: novel insights from a large consortium

Abstract Background The management of Von Hippel–Lindau syndrome (VHLS) is multidisciplinary. The urologist is involved in treating the renal, epididymal tumors and often adrenal pheochromocytoma. Preservation of renal and adrenal function is a challenge. We present 17 cases of VHLS in a tertiary care center in South India. Methods A retrospective review of the patients who underwent surgical treatment under urology for VHLS from January 2009 to November 2018 was conducted. The demographic data, the spectrum of manifestation, treatment, change in glomerular filtration rate, adrenal insufficiency, and recurrence-free survival were analyzed. Results There were 17 patients diagnosed with VHLS. The median age of diagnosis was 39 years (range 23–41). The spectrum of clinical manifestation was: multifocal RCC (88%), pancreatic cysts/tumors (70%), cerebellar hemangioblastoma (59%), retinal angiomas (47%), epididymal cysts/tumors (47%), pheochromocytomas (41%), and spinal hemangiomas (30%). There were seven patients with ten pheochromocytoma lesions. Three underwent cortical sparing and seven total adrenalectomies; 13 patients underwent nephron sparing surgery (NSS), of which seven patients had bilateral tumors. The median duration of follow-up was 6.5 years (range 2–12 years). Following NSS, seven patients had a local recurrence, and one developed pancreatic metastasis. Two patients (11%) were lost to follow-up. Renal function was preserved in all patients at the last follow-up, and there was no postoperative adrenal crisis or mortality. Conclusion Nephron sparing surgery and cortical sparing adrenalectomy are the treatment of choice for multifocal RCC and pheochromocytomas in patients with VHLS providing good oncological outcomes and preservation of renal and adrenal function.

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Clinical, surgical, pathological and follow-up features of kidney cancer in patients with von hippel-lindau syndRoma: novel insights from a large european consortium

European Urology Open Science ◽

10.1016/s2666-1683(20)35507-5 ◽

2020 ◽

Vol 20 ◽

pp. S118

Author(s):

U. Capitanio ◽

E. Selcuk ◽

I. Rowe ◽

K. Onder ◽

E. Roussel ◽

...

Keyword(s):

Kidney Cancer ◽

Von Hippel Lindau

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Cerebral Hemangioblastoma Without Von Hippel-Lindau Syndrome: A Report of 6 Cases

International Journal of Surgical Pathology ◽

10.1177/1066896920933998 ◽

2020 ◽

pp. 106689692093399

Author(s):

Limei Qu ◽

Chuanqi Lv ◽

Tiefeng Ji ◽

Yinping Wang ◽

Jinlu Yu

Keyword(s):

Parietal Lobe ◽

Clinical Manifestations ◽

Pathological Examination ◽

Cystic Tumor ◽

Mixed Tumor ◽

Wild Type ◽

Von Hippel Lindau ◽

Imaging Characteristics ◽

Von Hippel Lindau Syndrome

Background. Hemangioblastoma occurs mainly in the cerebellum and rarely in the cerebrum. Objective. The present study aimed to analyze the clinical manifestations and radiological and pathological features of cerebral hemangioblastoma, and to improve the recognition of this tumor and avoid misdiagnosis. Methods. The characteristics of 6 patients with cerebral hemangioblastoma were analyzed, and a retrospective review of cerebral hemangioblastoma reported in the literature was performed. Results. All 6 patients were female, aged from 22 to 70 years (55 years on average), and all cases were wild-type sporadic, in which 4 cases occurred in the frontal lobe and 2 cases occurred in the parietal lobe. Imaging revealed a solid tumor in 4 cases, a cystic tumor in 1 case, and a mixed tumor in 1 case. Microscopically, the morphology and immunophenotype of tumor cells were not different from those of classical hemangioblastoma. All 6 patients survived tumor free during the follow-up period. Conclusions. Cerebral hemangioblastoma often simulates the imaging characteristics of meningioma or glioma. Enough attention should be paid to differential diagnosis before the operation, and exact diagnosis relies on the pathological examination.

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Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey

Canadian Urological Association Journal ◽

10.5489/cuaj.2415 ◽

2014 ◽

Vol 8 (11-12) ◽

pp. 832 ◽

Cited By ~ 3

Author(s):

Philippe Denis Violette ◽

Suzanne Kamel-Reid ◽

Gail E Graham ◽

M Neil Reaume ◽

Michael A Jewett ◽

...

Keyword(s):

Genetic Testing ◽

Kidney Cancer ◽

Geographic Region ◽

Research Network ◽

Web Based ◽

Von Hippel Lindau ◽

Medical Oncologists ◽

Provider Knowledge ◽

Needs Assessment Survey ◽

Von Hippel Lindau Syndrome

Introduction: Treatment of hereditary renal cell carcinoma (HRCC) requires a multidisciplinary approach that may involve medical oncologists, geneticists, genetic counsellors, and urologists. The objective of our survey was to obtain current and representative information about the use and perceived importance of genetic testing for HRCC in Canada.Methods: A self-administered web-based survey was provided to Canadian medical oncologists, geneticists, genetic counsellors, and urologists in collaboration with their respective associations. The survey was created through an iterative process in consultation with the Kidney Cancer Research Network of Canada and contained both quantitative and qualitative components. The survey was designed to be exploratory and results were compared across regions.Results: The overall response was low (6.6%). Of the respondents, 42%, 33%, 19%, 5% were genetic counsellors, urologists, medical oncologists and medical geneticists, respectively. Of the respondents, 62.7% described their practice as academic, and 37.3% described it as non-academic. Non-academic respondents tended to refer for genetic counselling less frequently than academic (48.6% vs. 67.2%). Most respondents believed that genetic testing for HRCC was available (82.8%), although 47.7% did not know which tests were available. This observation was consistent across provinces. Testing for Von Hippel-Lindau syndrome was given the highest priority among respondents. Limited provider knowledge, clinical guidelines, institutional funding, access, and poor coordination between disciplines were cited as barriers to testing.Interpretation: There is a need to increase provider knowledge of genetic testing for HRCC. These findings support the development of practice guidelines and national strategies to improve coordination of specialists and access to genetics services. Limitations of the present study include low survey response which did not allow for inferential analysis by geographic region or respondent specialty.

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P4 Spinal cord haemangioblastomas: surgical management and clinical outcome

Journal of Neurology Neurosurgery & Psychiatry ◽

10.1136/jnnp-2019-abn.87 ◽

2019 ◽

Vol 90 (3) ◽

pp. e27.4-e28

Author(s):

M Pitsika ◽

J Nissen ◽

A Jenkins ◽

P Mitchell

Keyword(s):

Surgical Management ◽

Cervical Region ◽

Total Excision ◽

Von Hippel Lindau ◽

Multiple Lesions ◽

Rare Tumours ◽

Pathology Reports ◽

Von Hippel Lindau Syndrome ◽

Single Lesion

ObjectivesSpinal haemangioblastomas are rare tumours that can be either sporadic or as part of the CNS expression of Von Hippel Lindau syndrome (VHL). The aim of this study was to identify the characteristics of the haemangioblastomas both in sporadic and in VHL cases and to assess the outcome of the surgical management.MethodsWe retrospectively reviewed all spinal haemangioblastomas that were operated between 2004 and 2017 including clinical letters, MRIs and pathology reports.ResultsA total of 14 patients underwent excision of a spinal haemangioblastoma. Average follow up time was 50 months (range 4–164 months). The location was: medulla n=3, cervical region n=4, thoracic region n=5 and conus n=2. Six patients had VHL (42%) and from those n=5 had more than one lesion. A syrinx was present in n=9 cases (VHL n=6, multiple lesions n=5) and 2 had a syringoperitoneal shunt inserted followed by excision of the haemangioblastoma. In all but one case a total excision was achieved and the syrinx disappeared or improved in 6 cases. A clinical improvement was seen in n=10 patients, in n=2 a deterioration was seen post-operatively and in n=2 new symptoms developed during their follow up from the other lesions. None of the haemangioblastomas that were removed recurred.ConclusionsTotal excision of spinal haemangioblastomas offers a good outcome with possible cure in cases of a single lesion. Patients with VHL present more commonly with multiple lesions and large syrinxes which pose a challenge to the surgical management.

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Clinical presentation, genotype–phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel–Lindau syndrome

Endocrine ◽

10.1007/s12020-021-02752-8 ◽

2021 ◽

Author(s):

F. Penitenti ◽

L. Landoni ◽

M. Scardoni ◽

M. L. Piredda ◽

S. Cingarlini ◽

...

Keyword(s):

Neuroendocrine Tumors ◽

Clinical Presentation ◽

Genetic Mutation ◽

Common Disease ◽

Tumor Diameter ◽

Pancreatic Neuroendocrine Tumors ◽

Von Hippel Lindau ◽

Node Metastases ◽

Von Hippel Lindau Syndrome

Abstract Purpose Data regarding the clinical management and follow-up of pancreatic neuroendocrine tumors (PanNETs) associated with Von Hippel–Lindau (VHL) syndrome are limited. This study aimed to assess clinical presentation, genotype–phenotype correlations, treatment and prognosis of PanNETs in a series of VHL syndrome patients. Methods Retrospective analysis of data of patients observed between 2005 and 2020. Results Seventeen patients, including 12 probands and 5 relatives (mean age 30.8 ± 18.4; 7 males), were recruited. PanNETs were found in 13/17 patients (77.5%) at a median age of 37 years: 4/13 (30.7%) at the time of VHL diagnosis and 9 (69.3%) during follow up. Six (46.1%) PanNET patients underwent surgery, whereas seven were conservatively treated (mean tumor diameter: 40 ± 10.9 vs. 15 ± 5.3 mm respectively). Four patients (30.7%) had lymph node metastases and a mean tumor diameter significantly larger than the nonmetastatic PanNETs (44.2 ± 9.3 vs. 17.4 ± 7 mm, p = 0.00049, respectively). Five (83.3%) operated patients had stable disease after a median follow up of 3 years whereas one patient showed liver metastases. Six (85.7%) non-resected PanNETs were stable after a median follow-up of 2 years, whereas one patient developed a new small PanNET and a slight increase in diameter of a pre-existing PanNET. No correlation was found between the type of germline mutation and malignant behavior of PanNETs. Conclusions PanNETs are a common disease of the VHL syndrome and can be the presenting feature. Tumor size rather than genetic mutation is a prognostic factor of malignancy.

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