The management of pheochromocytoma: Diagnosis to genotyping

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 37-82-Pheochromocytoma & Paraganglioma
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-55
Ruth Casey*, Aoife Garrahy, Paula o'Shea and Marcia Bell
Galway University Hospital, Galway, Ireland
The aim of this study was to develop a pathway for the management of pheochromocytoma (PC) and paraganglioma (PG) in our institution. We focused on the appropriate application of diagnostic biochemistry, imaging and the role for genotyping. We performed a retrospective review of all positive urinary and plasma metanephrines recorded in our institution from 2004-2012. We also included histologically proven cases of PC and PG from that period. All confirmed cases were scheduled for genetic analysis after informed consent. We utilised genomic testing in the form of next generation sequencing to detect mutations in the RET, VHL, SDHB, SDHC, SDHD, SDHA, PRKARIA, TMEM127 genes with MLPA.110 patients, 67 males were included in the study. The mean age was 52 years (SD 15.7). Histology confirmed PC in 11.8%, 2.7% had malignant PC and 1.8 % had a PGA. A total of 61% of patients with confirmed PG or PC underwent genetic screening. To-date 17% of patients with confirmed PHAEO/PGL had a positive genotype.

 Family history is essential for genotyping and this was poorly documented in this cohort with only 37% having a documented family history. 1.8% had a documented history suspicious for a familial syndrome.  CT was the most commonly used imaging modality used to locate a tumour. CT was performed in 94% patients. MRI was used as the sole localisation modality in 1 patient and 22.2% had an MRI and CT. MIBG scan was performed in 66.7% of patients.

We conclude that genetic testing is essential in the management of these tumours. We believe that genetic screening should be offered to all patients but where resources are limited, testing should be offered to all patients aged <50 and in those with suspicious clinical characteristics.

This study highlights the need for a dedicated care pathway in the management of PC and PG and the need for defined guidelines on the practice of genetic testing in these conditions.

Nothing to Disclose: RC, AG, PO, MB

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