Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2016) 41 GP2 | DOI: 10.1530/endoabs.41.GP2

ECE2016 Guided Posters Adrenal (10 abstracts)

Screening for a ten-gene panel in a group of 90 phaeochromocytomas

Emilia Sbardella 1, , Treena Cranston 2 , Radu Mihai 3 & Ashley Grossman 1


1Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK; 2Oxford Medical Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK; 3Department of Surgery, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford, UK; 4Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.


Background: Several new gene mutations have been reported in recent years to be associated with a risk of familial phaeochromocytomas (PHAEOs). However, it is unclear as to whether extensive genetic testing is required in all patients (pts).

Methods: Clinical data of consecutive patients operated for PHAEO over a decade in a tertiary referral centre were reviewed. Genetic screening was performed using a ten-gene panel: RET, VHL, SDHB, SDHD, SDHA, SDHC, SDHAF2, MAX, TMEM127, (NF1 when indicated; TMEM127 and SDHB if > 45 years and isolated PHAEO).

Results: A total of 157 patients (68 M: 43.3%, 89 F: 56.7%, age range 6–86 years, median 50.3±17.4 years) underwent laparoscopic (85%), open (10.5%), or laparoscopic converted to open (4.5%) adrenalectomy for unilateral (92%) or bilateral (8%) adrenal PHAEOs: 90 pts underwent genetic screening, in particular 60/90 (66.7%) pts presented with apparently sporadic tumours and 30/90 (33.3%) pts had genetic mutations. These were more frequently seen with bilateral PHAEOs (P=0.02). Mutations were seen in 12.2% pts for VHL, 10% NF1, 5.6% MEN2, 1.1% MEN3, 2.2% SDHD and 2.2% MAX. During a median follow-up of 50.4 months, 8% showed recurrent and 7% had metastatic disease. Younger pts showed a significant higher percentage of mutations compared to older pts (44% vs 17%). Twenty-seven percent of mutations were identified in pts with unilateral-non-recurrent PHAEOs within 5 years vs 62.5% in the recurrent-bilateral-metastatic group. Eighty-six of pts with bilateral disease had germline mutations (2 VHL, 2 RET, 1 NF1, 1 MAX).

Conclusions: The advent of rapid genetic screening for a ten-gene panel makes it feasible to screen large cohorts of pts, and allows for the prediction of bilateral and malignant disease and the screening of family members.

Article tools

My recent searches

No recent searches.