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Routine genetic screening with a multi-gene panel in patients with pheochromocytomas. | LitMetric

Routine genetic screening with a multi-gene panel in patients with pheochromocytomas.

Endocrine

Department of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Churchill Hospital, University of Oxford, Oxford, UK, OX3 7LE, UK.

Published: January 2018

AI Article Synopsis

  • A study analyzed clinical data from 166 patients who underwent surgery for pheochromocytoma, focusing on the necessity of genetic testing for familial cases.
  • Out of 87 patients tested, 25.3% had germline mutations, with the highest rates found in those with bilateral pheochromocytomas.
  • The research emphasizes the importance of rapid genetic screening as a tool for predicting disease severity and guiding the screening of family members.

Article Abstract

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

Methods: The clinical data of consecutive patients operated for pheochromocytoma over a decade in a tertiary referral center were reviewed. Genetic screening was performed using a 10-gene panel: RET, VHL, SDHB, SDHD, SDHA, SDHC, SDHAF2, MAX, TMEM127 and FH.

Results: A total of 166 patients were analyzed: 87 of them had genetic screening performed (39 M: 44.8%, 48 F: 55.2%, age range 6-81 years, mean 45±16.8 years). In total, 22/87 (25.3%) patients had germline mutations, while 65/87 (74.7%) patients presented with apparently sporadic tumors. Germline VHL mutations were identified in 11.7% of patients, RET in 6.8% (five MEN2A/MEN2 and one MEN2B/MEN3), SDHD in 2.3%, MAX in 2.3%, SDHB in 1.1%, and TMEM127 in 1.1% of patients. At diagnosis, 15.1% of patients with unilateral non-syndromic pheochromocytoma showed germline mutations. We identified 19.7% of mutations in patients with unilateral-non-recurrent pheochromocytomas within 5 years vs. 50% in the recurrent-bilateral-metastatic group (p = 0.01). Germline mutations were more frequently seen with bilateral pheochromocytomas (p = 0.001): 80% of patients with bilateral disease had germline mutations (4 VHL, 3 RET, 1 MAX).

Conclusions: The advent of rapid genetic screening using a gene-panel makes it feasible to screen large cohorts of patients and provides a valuable tool to contribute to the prediction of bilateral and malignant disease and to screen family members.

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Source
http://dx.doi.org/10.1007/s12020-017-1310-9DOI Listing

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