ECE2015 Guided Posters Endocrine tumours and neoplasia – Adrenal Tumour (7 abstracts)
The incidence of consecutive manifestations of VHL disease
Carlijn Frantzen 1 , Roeliene C Kruizinga 1 , Wim J Sluiter 1 , Elisabeth G E de Vries 2 , Bernard A Zonnenberg 3 , Cornelis J Lips 3 , Annemiek M E Walenkamp 2 , Anouk N A van der Horst-Schrivers 1 & Thera P Links 1
1Department of Endocrinology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; 2Department of Medical Oncology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; 3Department of Internal Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
Background: Von Hippel Lindau (VHL) disease is a rare tumour syndrome with a high penetrance. VHL mutation carriers develop numerous disease related manifestations in multiple organs during life, but precise difference in growth velocity and incidence of lesions in different organs is still unknown. We aimed to gain insight in the incidence of consecutive new disease manifestations in the organs of patients with VHL.
Patients and methods: Clinical data including age at diagnosis of each new VHL-related manifestation of 75 VHL mutation carriers, with standardised follow-up, in two Dutch VHL-expert centres were retrospectively evaluated. Only consecutive lesions in the retina, the CNS, the kidneys and the pancreas were analysed. New organ lesions were defined as a new organ manifestations detected on imaging or in case of retinal lesions detected by fundoscopy. The Kaplan Meier method was used to construct the cumulative proportions of first and all consecutive manifestations in each organ against age. The cumulative average number of manifestations in all organs during life was calculated by summating these cumulative proportions. Poisson model parameters served to calculate average time to the detection of VHL manifestations in each organ.
Results: Consecutive VHL-related kidney and retina manifestations during life occur according to Poisson distribution model. The second VHL pancreas manifestation occurred later and the consecutive CNS hemangioblastomas were detected earlier than predicted by the Poisson model. The average total systemic number of manifestations rises in a linear way to seven VHL-related manifestations at age 60 years.
Conclusion: The incidence of new VHL-related manifestations after the first organ involvement is highly constant during life in VHL-carriers. Therefore, the accelerations and arrests in appearance of new manifestations observed in individual subjects are caused by the randomness of events and not by variation in disease activity.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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