Back to Search
Start Over
Routine genetic screening with a multi-gene panel in patients with pheochromocytomas
- Source :
- Endocrine; January 2018, Vol. 59 Issue: 1 p175-182, 8p
- Publication Year :
- 2018
-
Abstract
- 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. 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, TMEM127and FH. 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 VHLmutations were identified in 11.7% of patients, RETin 6.8% (five MEN2A/MEN2 and one MEN2B/MEN3), SDHDin 2.3%, MAXin 2.3%, SDHBin 1.1%, and TMEM127in 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). 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.
Details
- Language :
- English
- ISSN :
- 1355008x and 15590100
- Volume :
- 59
- Issue :
- 1
- Database :
- Supplemental Index
- Journal :
- Endocrine
- Publication Type :
- Periodical
- Accession number :
- ejs41885368
- Full Text :
- https://doi.org/10.1007/s12020-017-1310-9