{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T10:12:26Z","timestamp":1775815946378,"version":"3.50.1"},"reference-count":38,"publisher":"Oxford University Press (OUP)","issue":"4","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2016,10]]},"abstract":"<jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Genetic aetiology of pheochromocytoma (PCC) and paraganglioma (PGL) is increasingly being studied; however, Asian Indian data on this aspect are scarce.<\/jats:p><\/jats:sec>\n<jats:sec>\n<jats:title>Objective<\/jats:title>\n<jats:p>To study the prevalence of germline mutations and genotype\u2013phenotype correlation in Asian Indian PCC\/PGL patients.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Design<\/jats:title>\n<jats:p>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 (<jats:italic>RET<\/jats:italic>, <jats:italic>VHL<\/jats:italic>, <jats:italic>SDHB<\/jats:italic>, <jats:italic>SDHD<\/jats:italic> and <jats:italic>SDHC<\/jats:italic>) were tested by sequencing and NF1 was diagnosed according to phenotype.<\/jats:p><\/jats:sec>\n<jats:sec>\n<jats:title>Result<\/jats:title>\n<jats:p>Of the total population, 49 (32.7%) PCC\/PGL patients had germline mutations (<jats:italic>VHL<\/jats:italic>: 23 (15.3%), <jats:italic>RET<\/jats:italic>: 13 (8.7%), <jats:italic>SDHB<\/jats:italic>: 9 (6%), <jats:italic>SDHD<\/jats:italic>: 2 (1.3%) and <jats:italic>NF1<\/jats:italic>: 2 (1.3%)). Amongst the 30 patients with familial and\/or syndromic presentation, all had germline mutations (<jats:italic>VHL<\/jats:italic>: 14 (46.7%), <jats:italic>RET<\/jats:italic>: 13 (43.3%), <jats:italic>SDHB<\/jats:italic>: 1 (3.3%) and NF1: 2 (6.7%)). Out of 120 patients with apparently sporadic presentation, 19 (15.8%) had a germline mutation (<jats:italic>VHL<\/jats:italic>: 9 (7.5%), <jats:italic>SDHB<\/jats:italic>: 8 (6.7%) and <jats:italic>SDHD<\/jats:italic>: 2 (1.7%)). Mutation carriers were younger (29.9\u2009\u00b1\u200914.5\u2009years vs 36.8\u2009\u00b1\u200914.9; <jats:italic>P\u2009<\/jats:italic>=\u20090.01) and had a higher prevalence of bilateral PCC (26.5% vs 2.9%, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001) and multifocal tumours (12.2% vs 0.96%, <jats:italic>P<\/jats:italic>\u2009=\u20090.06). 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.<\/jats:p><\/jats:sec>\n<jats:sec>\n<jats:title>Conclusion<\/jats:title>\n<jats:p>Asian Indians with PCC\/PGL differ from Western cohorts in having preponderance of <jats:italic>VHL<\/jats:italic> 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.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-16-0126","type":"journal-article","created":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T02:00:07Z","timestamp":1471572007000},"page":"311-323","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-1","source":"Crossref","is-referenced-by-count":35,"title":["Germline mutations and genotype\u2013phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma"],"prefix":"10.1093","volume":"175","author":[{"given":"Reshma","family":"Pandit","sequence":"first","affiliation":[{"name":"1Department of EndocrinologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kranti","family":"Khadilkar","sequence":"additional","affiliation":[{"name":"1Department of EndocrinologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijaya","family":"Sarathi","sequence":"additional","affiliation":[{"name":"2Department of EndocrinologyVydehi Institute of Medical Sciences and Research Centre, Bangalore, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajeev","family":"Kasaliwal","sequence":"additional","affiliation":[{"name":"3Department of EndocrinologyMahatma Gandhi Hospital and Medical College, Jaipur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manjunath","family":"Goroshi","sequence":"additional","affiliation":[{"name":"1Department of EndocrinologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shruti","family":"Khare","sequence":"additional","affiliation":[{"name":"1Department of EndocrinologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandhya","family":"Nair","sequence":"additional","affiliation":[{"name":"1Department of EndocrinologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vijaya","family":"Raghavan","sequence":"additional","affiliation":[{"name":"1Department of EndocrinologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abhay","family":"Dalvi","sequence":"additional","affiliation":[{"name":"4Departments of General Surgery"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priya","family":"Hira","sequence":"additional","affiliation":[{"name":"5Radiology"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gwendolyn","family":"Fernandes","sequence":"additional","affiliation":[{"name":"6PathologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pragati","family":"Sathe","sequence":"additional","affiliation":[{"name":"6PathologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amey","family":"Rojekar","sequence":"additional","affiliation":[{"name":"6PathologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gaurav","family":"Malhotra","sequence":"additional","affiliation":[{"name":"7Radiation Medicine CentreBhabha Atomic Research Centre, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ganesh","family":"Bakshi","sequence":"additional","affiliation":[{"name":"8Department of Uro-oncologyTata Memorial Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gagan","family":"Prakash","sequence":"additional","affiliation":[{"name":"8Department of Uro-oncologyTata Memorial Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anil","family":"Bhansali","sequence":"additional","affiliation":[{"name":"9Department of EndocrinologyPostgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rama","family":"Walia","sequence":"additional","affiliation":[{"name":"9Department of EndocrinologyPostgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sadishkumar","family":"Kamalanathan","sequence":"additional","affiliation":[{"name":"10Department of EndocrinologyJawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Pondicherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jayaprakash","family":"Sahoo","sequence":"additional","affiliation":[{"name":"10Department of EndocrinologyJawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Pondicherry, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ankush","family":"Desai","sequence":"additional","affiliation":[{"name":"11Endocrine UnitDepartment of Medicine, Goa Medical College, Bambolim, Goa, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nikhil","family":"Bhagwat","sequence":"additional","affiliation":[{"name":"12Department of EndocrinologyTopiwala National Medical College & BYL Nair Charitable Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prashanth","family":"Mappa","sequence":"additional","affiliation":[{"name":"13Department of MedicineKannur Medical College and Hospital, Kannur, Kerala, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajesh","family":"Rajput","sequence":"additional","affiliation":[{"name":"14Department of EndocrinologyPt. B.D. Sharma PGIMS, Rohtak, Haryana, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sudha Rao","family":"Chandrashekhar","sequence":"additional","affiliation":[{"name":"15Division of Pediatric EndocrinologyBai Jerbai Wadia Hospital for Children, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vyankatesh","family":"Shivane","sequence":"additional","affiliation":[{"name":"1Department of EndocrinologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Padma","family":"Menon","sequence":"additional","affiliation":[{"name":"1Department of EndocrinologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anurag","family":"Lila","sequence":"additional","affiliation":[{"name":"1Department of EndocrinologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tushar","family":"Bandgar","sequence":"additional","affiliation":[{"name":"1Department of EndocrinologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nalini","family":"Shah","sequence":"additional","affiliation":[{"name":"1Department of EndocrinologySeth G S Medical College and KEM Hospital, Mumbai, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","reference":[{"key":"2016081818594834000_175.4.311.1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpendmet0396"},{"key":"2016081818594834000_175.4.311.2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc066006"},{"key":"2016081818594834000_175.4.311.3","doi-asserted-by":"publisher","DOI":"10.1038\/363458a0"},{"key":"2016081818594834000_175.4.311.4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.8.1303"},{"key":"2016081818594834000_175.4.311.5","doi-asserted-by":"publisher","DOI":"10.1126\/science.287.5454.848"},{"key":"2016081818594834000_175.4.311.6","doi-asserted-by":"publisher","DOI":"10.1038\/81551"},{"key":"2016081818594834000_175.4.311.7","doi-asserted-by":"publisher","DOI":"10.1086\/321282"},{"key":"2016081818594834000_175.4.311.8","doi-asserted-by":"publisher","DOI":"10.1038\/ng.533"},{"key":"2016081818594834000_175.4.311.9","doi-asserted-by":"publisher","DOI":"10.1038\/ng.861"},{"key":"2016081818594834000_175.4.311.10","doi-asserted-by":"publisher","DOI":"10.1126\/science.1175689"},{"key":"2016081818594834000_175.4.311.11","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq206"},{"key":"2016081818594834000_175.4.311.12","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt639"},{"key":"2016081818594834000_175.4.311.13","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0806277"},{"key":"2016081818594834000_175.4.311.14","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-014-1205-7"},{"key":"2016081818594834000_175.4.311.15","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djv053"},{"key":"2016081818594834000_175.4.311.16","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1648608"},{"key":"2016081818594834000_175.4.311.17","doi-asserted-by":"publisher","DOI":"10.1007\/s00109-012-0967-z"},{"key":"2016081818594834000_175.4.311.18","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa020152"},{"key":"2016081818594834000_175.4.311.19","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2005.03.1484"},{"key":"2016081818594834000_175.4.311.20","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2756"},{"key":"2016081818594834000_175.4.311.21","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2006.02714.x"},{"key":"2016081818594834000_175.4.311.22","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2419"},{"key":"2016081818594834000_175.4.311.23","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12530"},{"key":"2016081818594834000_175.4.311.24","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-1498"},{"key":"2016081818594834000_175.4.311.25","first-page":"172","volume-title":"Neurofibromatosis","volume":"1","author":"National Institutes of Health consensus development conference statement: neurofibromatosis.","year":"1988"},{"key":"2016081818594834000_175.4.311.26","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm306"},{"key":"2016081818594834000_175.4.311.27","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.2890"},{"key":"2016081818594834000_175.4.311.28","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"2016081818594834000_175.4.311.29","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1038\/nprot.2009.86","article-title":"Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm","volume":"4","author":"Kumar","year":"2009","journal-title":"Nature Protocols"},{"key":"2016081818594834000_175.4.311.30","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"2016081818594834000_175.4.311.31","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-6-39"},{"key":"2016081818594834000_175.4.311.32","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.1.256"},{"key":"2016081818594834000_175.4.311.33","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20928"},{"key":"2016081818594834000_175.4.311.34","doi-asserted-by":"crossref","first-page":"872713","DOI":"10.1155\/2012\/872713","article-title":"Updated and new perspectives on diagnosis, prognosis, and therapy of malignant pheochromocytoma\/paraganglioma","volume":"2012","author":"Parenti","year":"2012","journal-title":"Journal of Oncology"},{"key":"2016081818594834000_175.4.311.35","first-page":"133","article-title":"Mutations seen among patients with pheochromocytoma and paraganglioma at a referral center from India","volume":"47","author":"Pai","year":"2015","journal-title":"Hormone and Metabolic Research"},{"key":"2016081818594834000_175.4.311.36","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12218"},{"key":"2016081818594834000_175.4.311.37","doi-asserted-by":"publisher","DOI":"10.1038\/nrc3648"},{"key":"2016081818594834000_175.4.311.38","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1038\/nrendo.2014.188","article-title":"Paraganglioma and phaeochromocytoma: from genetics to personalised medicine","volume":"11","author":"Favier","year":"2015","journal-title":"Nature Reviews Endocrinology"}],"container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/175\/4\/311.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/175\/4\/311.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:34:02Z","timestamp":1676392442000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/175\/4\/311\/6654977"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,10]]},"references-count":38,"journal-issue":{"issue":"4"},"URL":"https:\/\/doi.org\/10.1530\/eje-16-0126","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,10]]}}}