Clinical features of pancreatic involvement in von Hippel–Lindau disease: a retrospective study of 55 cases in a single center

4516 Background: Von Hippel-Lindau disease (VHL) is an autosomal dominant inherited disorder. Affected individuals develop vascular neoplastic lesions in multiple sites including eye, brain, pancreas, adrenal and kidney. Standards of care include surveillance imaging and surgical intervention. We hypothesized that treatment of VHL related lesions with an antiangiogenic agent would result in shrinkage of all lesion types. We chose the multikinase inhibitor pazopanib to test this hypothesis. Methods: After obtaining IRB approval, patients with clinical features or genetic confirmation of VHL disease and with measurable lesions were treated with pazopanib 800mg PO daily for two 12-week cycles. Efficacy was determined by RECIST after two cycles. Patients had the option to continue therapy if considered in patient’s best interest. Continuous monitoring for any lesion progression and drug discontinuation due to toxicity during the whole period of the treatment was planned. Results: Patients were enrolled (N=32) and treated (N=31) between 1/2012 and 6/2016. Median age was 37 (range 19-67). 23 patients had genomically confirmed VHL disease; four had family and personal history but had not undergone genetic testing, and five patients had clinical features of VHL disease and negative genetic testing. A median of two cycles (range 1-12) of therapy was administered. Of 31 evaluable patients, 13 (42%) showed a response, 18 patients had stable disease and no patients had PD as best response. Responses were seen in renal (2 CR and 29 PR/59 total), pancreatic (9 PR/17 total) and CNS 2 PR/49 total) target lesions. The most common side effect was diarrhea (grades 1 and 2) experienced in 14 patients. Twelve patients dose reduced to 600 mg and 6 to 400 mg pazopanib PO daily. Eight patients discontinued therapy due to adverse events of whom 4 experienced transaminitis. One patient experienced a grade V CNS hemorrhage. Conclusions: This is the largest prospective VHL disease specific therapeutic study performed to date. Pazopanib resulted in significant and sustained disease control for the majority of VHL patients enrolled on the study, with an acceptable safety profile. This agent may be considered as an alternative to surgical intervention in patients with VHL disease. Clinical trial information: NCT01436227.

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Clinical Features and Natural History of von Hippel-Lindau Disease

QJM ◽

10.1093/qjmed/77.2.1151 ◽

1990 ◽

Vol 77 (2) ◽

pp. 1151-1163 ◽

Cited By ~ 514

Author(s):

E. R. MAHER ◽

J. R. W. YATES ◽

R. HARRIES ◽

C. BENJAMIN ◽

R. HARRIS ◽

...

Keyword(s):

Natural History ◽

Clinical Features ◽

Von Hippel Lindau ◽

History Of ◽

Von Hippel Lindau Disease

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Pancreatic involvement in Japanese patients with von Hippel-Lindau disease: results of a nationwide survey

Journal of Gastroenterology ◽

10.1007/s00535-013-0794-1 ◽

2013 ◽

Vol 49 (3) ◽

pp. 511-516 ◽

Cited By ~ 21

Author(s):

Hisato Igarashi ◽

Tetsuhide Ito ◽

Isao Nishimori ◽

Kenji Tamura ◽

Ichiro Yamasaki ◽

...

Keyword(s):

Nationwide Survey ◽

Japanese Patients ◽

Von Hippel Lindau ◽

Pancreatic Involvement ◽

Von Hippel Lindau Disease

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Genetics and molecular biology of renal cancer

10.1093/med/9780199659579.003.0084 ◽

2017 ◽

Author(s):

Mariam Jafri ◽

Eamonn R Maher

Keyword(s):

Clinical Features ◽

Kidney Cancer ◽

Renal Cancer ◽

Cancer Syndrome ◽

Inherited Disorders ◽

Von Hippel Lindau ◽

Von Hippel Lindau Disease ◽

Molecular Pathophysiology ◽

Cancer Syndromes ◽

Key Pathways

Renal cell carcinoma (RCC) is the exemplar of how the understanding of the molecular pathogenesis of rare inherited disorders can inform an understanding of the key pathways involved in the pathogenesis of sporadic cancer. In this chapter we describe the clinical and pathological features of the inherited kidney cancer syndromes: von Hippel Lindau disease (VHL); Birt-Hogg-Dube syndrome; hereditary leiomyomatosis and renal cancer syndrome; succinate dehydrogenase disorders; hereditary papillary renal cancer; and translocation-associated kidney cancer. Though individually rare, recognition of individuals with familial kidney cancer is important as they present specific clinical challenges to the urological surgeon because of their propensity to develop multicentric/bilateral tumours. Furthermore, different familial RCC predisposition syndromes are associated with different extra renal clinical features and have specific surveillance needs. Despite differences in clinical features, there is some overlap in the molecular pathophysiology between the disorders and these highlight the key signalling pathways for RCC oncogenesis.

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The Efficacy and Safety of Tyrosine Kinase Inhibitors for Von Hippel–Lindau Disease: A Retrospective Study of 32 Patients

Frontiers in Oncology ◽

10.3389/fonc.2019.01122 ◽

2019 ◽

Vol 9 ◽

Cited By ~ 2

Author(s):

Kaifang Ma ◽

Baoan Hong ◽

Jingcheng Zhou ◽

Yanqing Gong ◽

Jiangyi Wang ◽

...

Keyword(s):

Retrospective Study ◽

Tyrosine Kinase ◽

Tyrosine Kinase Inhibitors ◽

Kinase Inhibitors ◽

Efficacy And Safety ◽

Von Hippel Lindau ◽

Von Hippel Lindau Disease

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Supratentorial hemangioblastoma: clinical features, prognosis, and predictive value of location for von Hippel-Lindau disease

Neuro-Oncology ◽

10.1093/neuonc/nos133 ◽

2012 ◽

Vol 14 (8) ◽

pp. 1097-1104 ◽

Cited By ~ 16

Author(s):

S. A. Mills ◽

M. C. Oh ◽

M. J. Rutkowski ◽

M. E. Sughrue ◽

I. J. Barani ◽

...

Keyword(s):

Clinical Features ◽

Predictive Value ◽

Von Hippel Lindau ◽

Von Hippel Lindau Disease

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Prevalence and clinical features of 2019 novel coronavirus disease (COVID-19) in the Fever Clinic of a teaching hospital in Beijing: a single-center, retrospective study

10.1101/2020.02.25.20027763 ◽

2020 ◽

Cited By ~ 7

Author(s):

Ying Liang ◽

Jingjin Liang ◽

Qingtao Zhou ◽

Xiaoguang Li ◽

Fei Lin ◽

...

Keyword(s):

Retrospective Study ◽

Clinical Features ◽

Respiratory Infections ◽

Panel Discussion ◽

Epidemiological Data ◽

Hubei Province ◽

Single Center ◽

Peking University ◽

Novel Coronavirus ◽

Lung Ct

AbstractBackgroundWith the spread of COVID-19 from Wuhan, Hubei Province to other areas of the country, medical staff in Fever Clinics faced the challenge of identifying suspected cases among febrile patients with acute respiratory infections. We aimed to describe the prevalence and clinical features of COVID-19 as compared to pneumonias of other etiologies in a Fever Clinic in Beijing.MethodsIn this single-center, retrospective study, 342 cases of pneumonia were diagnosed in Fever Clinic in Peking University Third Hospital between January 21 to February 15, 2020. From these patients, 88 were reviewed by panel discussion as possible or probable cases of COVID-19, and received 2019-nCoV detection by RT-PCR. COVID-19 was confirmed by positive 2019-nCoV in 19 cases, and by epidemiological, clinical and CT features in 2 cases (the COVID-19 Group, n=21), while the remaining 67 cases served as the non-COVID-19 group. Demographic and epidemiological data, symptoms, laboratory and lung CT findings were collected, and compared between the two groups.FindingsThe prevalence of COVID-19 in all pneumonia patients during the study period was 6.14% (21/342). Compared with the non-COVID-19 group, more patients with COVID-19 had an identified epidemiological history (90.5% versus 32.8%, P<0.001). The COVID-19 group had lower WBC [5.19×109/L (±1.47) versus 7.21×109/L (±2.94), P<0.001] and neutrophil counts [3.39×109/L (±1.48) versus 5.38×109/L (±2.85), P<0.001] in peripheral blood. However, the count of lymphocytes was not different. On lung CT scans, involvement of 4 or more lobes was more common in the COVID-19 group (45% versus 16.4%, P=0.008).InterpretationIn the period of COVID-19 epidemic outside Hubei Province, the prevalence of COVID-19 in patients with pneumonia visiting our Fever Clinic in Beijing was 6.14%. Epidemiological evidence was important for prompt case finding, and lower blood WBC and neutrophil counts may be useful for differentiation from pneumonia of other etiologies.FundingNone.

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