Radiological surveillance of VHL patients: Risk or benefit?

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 292-305-MEN1, MEN2 & Pheochromocytomas
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-301
Shane O'Donovan*1, Ruth Casey2, Siobhan O'Neil1, Antoinette A Tuthill1, Michael Maher1, Domhnall Jude O'Halloran3 and Patrick McLaughlin4
1Cork University Hospital, Cork, Ireland, 2Cork Univ Hospital, Cork, Ireland, 3Cork Univ Hosp, Cork, Ireland, 4Cork University Hospital, Ireland
Von Hippel-Lindau (VHL) is a rare autosomal dominant condition in which a deletion of a tumour suppressor gene on chromosome 3 predisposes to the development of benign and malignant tumours. A variety of imaging modalities can be utilized in the diagnosis of these tumours including ultrasonography (US), computed tomography (CT), magnetic resonance imaging (MRI), and nuclear medicine.

The aims of this study were to: (1) audit imaging modalities employed in VHL in our institution, (2) calculate the Cumulative Effective Dose (CED) of diagnostic radiation; (3) determine factors associated with an increased risk to a high CED.

 All patients with von Hippel-Lindau attending a single tertiary referral centre in the South West of Ireland were included. CED was calculated from a retrospective audit of all available imaging in the cohort up to September 2011; additionally patients were contacted by mail to quantify external imaging. High exposure was defined as CED > 75 mSv. 18 patients (9 male, 9 female) were included in this analysis. Mean age of the cohort was 36.8 years. A total of 617 imaging studies were performed; Computed Tomography (CT) accounted for 45 % of all studies and 86% of the diagnostic radiation. 12 Patients (66%) showed at least one imaging manifestation of malignancy. Median CED was 96 mSv (CI 55.72-216.76mSv). 9 (50%) patients had a High CED. Abdominal CT significantly contributed to the CED (49%) and total CT burden (38 %). Factors associated with a high CED included; previous diagnosis of a neoplasm and increasing age (p values .001 and .002).

VHL requires lifelong radiological surveillance and predisposes this cohort of patients to the risk of radiation induced cancer and toxicity. In this study, CT was the favoured imaging modality. Taking into account the cumulative risk attributable to genetic predisposition, high CED, regular imaging, we conclude that alternative imaging modalities such as MRI should be considered in this cohort for screening and follow

Nothing to Disclose: SO, RC, SO, AAT, MM, DJO, PM

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