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Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.
| Content Provider | Semantic Scholar |
|---|---|
| Author | Pandit, Reshma Khadilkar, Kranti Shreesh Sarathi, Vijaya Kasaliwal, Rajeev Goroshi, Manjunath Khare, Shruti Nair, Sandhya Pillai Raghavan, Vijaya Dalvi, Abhay N. Hira, Priya Fernandes, Gwendolyn C. Sathe, Pragati Aditya Rojekar, Amey Malhotra, Gaurav Bakshi, Ganesh K. Prakash, Gagan Bhansali, Anil Walia, Rama Kamalanathan, Sadishkumar Sahoo, Jayaprakash Desai, Ankush K. Bhagwat, Nikhil M. Mappa, Prashanth Rajput, Rajesh Chandrashekhar, Sudha Rao Shivane, Vyankatesh K. Menon, Padma S. Lila, Anurag Ranjan Bandgar, Tushar Shah, Nalin |
| Copyright Year | 2016 |
| Abstract | Background: Genetic aetiology of pheochromocytoma (PCC) and paraganglioma (PGL) is increasingly being studied; however, Asian Indian data on this aspect are scarce. Objective: To study the prevalence of germline mutations and genotype–phenotype correlation in Asian Indian PCC/ PGL patients. Design: In this study, 150 index patients (M:F, 73:77) with PCC/PGL were evaluated. Phenotypic data were collected. Germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested by sequencing and NF1 was diagnosed according to phenotype. Result: Of the total population, 49 (32.7%) PCC/PGL patients had germline mutations (VHL: 23 (15.3%), RET: 13 (8.7%), SDHB: 9 (6%), SDHD: 2 (1.3%) and NF1: 2 (1.3%)). Amongst the 30 patients with familial and/or syndromic presentation, all had germline mutations (VHL: 14 (46.7%), RET: 13 (43.3%), SDHB: 1 (3.3%) and NF1: 2 (6.7%)). Out of 120 patients with apparently sporadic presentation, 19 (15.8%) had a germline mutation (VHL: 9 (7.5%), SDHB: 8 (6.7%) and SDHD: 2 (1.7%)). Mutation carriers were younger (29.9 ± 14.5 years vs 36.8 ± 14.9; P = 0.01) and had a higher prevalence of bilateral PCC (26.5% vs 2.9%, P < 0.001) and multifocal tumours (12.2% vs 0.96%, P = 0.06). Based on syndromic features, metastasis, location and number of tumours, around 96% mutations in our cohort could be detected by appropriately selected single gene testing. Conclusion: Asian Indians with PCC/PGL differ from Western cohorts in having preponderance of VHL mutations in multifocal tumours and apparently sporadic unilateral PCC. Syndromic presentation, metastasis, location and number of PCC/PGL can be effectively used for guiding genetic prioritisation. Clinical Study Correspondence should be addressed to R Pandit Email reshmap9@gmail.com European Journal of Endocrinology (2016) 175, 311–323 |
| Starting Page | X3 |
| Ending Page | X3 |
| Page Count | 1 |
| File Format | PDF HTM / HTML |
| DOI | 10.1530/eje-16-0126e |
| PubMed reference number | 27811160 |
| Journal | Medline |
| Volume Number | 175 |
| Issue Number | 6 |
| Alternate Webpage(s) | http://www.eje-online.org/content/175/4/311.full.pdf |
| Alternate Webpage(s) | https://doi.org/10.1530/eje-16-0126e |
| Journal | European journal of endocrinology |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
