{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:08:31Z","timestamp":1791119311795,"version":"4.1.0"},"reference-count":20,"publisher":"The Endocrine Society","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,9,1]]},"DOI":"10.1210\/jc.2007-0894","type":"journal-article","created":{"date-parts":[[2007,6,14]],"date-time":"2007-06-14T05:08:05Z","timestamp":1181797685000},"page":"3728-3732","source":"Crossref","is-referenced-by-count":50,"title":["Multiple Gastrointestinal Stromal and Other Tumors Caused by Platelet-Derived Growth Factor Receptor \u03b1 Gene Mutations: A Case Associated with a Germline V561D Defect"],"prefix":"10.1210","volume":"92","author":[{"given":"Barbara","family":"Pasini","sequence":"first","affiliation":[{"name":"Department of Genetics, Biology, and Biochemistry (B.P., B.F.), University of Turin, Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludmila","family":"Matyakhina","sequence":"additional","affiliation":[{"name":"Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program (L.M., T.B., M.M., S.B., C.A.S.), Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thalia","family":"Bei","sequence":"additional","affiliation":[{"name":"Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program (L.M., T.B., M.M., S.B., C.A.S.), Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Muchow","sequence":"additional","affiliation":[{"name":"Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program (L.M., T.B., M.M., S.B., C.A.S.), Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sosipatros","family":"Boikos","sequence":"additional","affiliation":[{"name":"Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program (L.M., T.B., M.M., S.B., C.A.S.), Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Ferrando","sequence":"additional","affiliation":[{"name":"Department of Genetics, Biology, and Biochemistry (B.P., B.F.), University of Turin, Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Aidan","family":"Carney","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology (J.A.C.), Mayo Clinic, Rochester, Minnesota 55905"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constantine A.","family":"Stratakis","sequence":"additional","affiliation":[{"name":"Section on Endocrinology and Genetics and Pediatric Endocrinology Training Program (L.M., T.B., M.M., S.B., C.A.S.), Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113585981100_R1","doi-asserted-by":"crossref","first-page":"1015","DOI":"10.1093\/hmg\/ddl016","article-title":"Molecular pathogenesis of multiple gastrointestinal stromal tumors in NF1 patients.","volume":"15","author":"Maertens","year":"2006","journal-title":"Hum Mol Genet"},{"key":"key\n\t\t\t\t2019041113585981100_R2","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.1097\/01.pas.0000159775.77912.15","article-title":"NF1-associated gastrointestinal stromal tumors have unique clinical, phenotypic, and genotypic characteristics.","volume":"29","author":"Andersson","year":"2005","journal-title":"Am J Surg Pathol"},{"key":"key\n\t\t\t\t2019041113585981100_R3","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1111\/j.1349-7006.2000.tb00910.x","article-title":"Allelic loss of 14q and 22q, NF2 mutation, and genetic instability occur independently of c-kit mutation in gastrointestinal stromal tumor.","volume":"91","author":"Fukasawa","year":"2000","journal-title":"Japn J Cancer Res"},{"key":"key\n\t\t\t\t2019041113585981100_R4","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1056\/NEJM197706302962609","article-title":"The triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondroma.","volume":"296","author":"Carney","year":"1977","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041113585981100_R5","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1097\/00005792-198305000-00003","article-title":"The triad of gastric epithelioid leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal paraganglioma: a five-year review.","volume":"62","author":"Carney","year":"1983","journal-title":"Medicine (Baltimore)"},{"key":"key\n\t\t\t\t2019041113585981100_R6","doi-asserted-by":"crossref","first-page":"543","DOI":"10.4065\/74.6.543","article-title":"Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney triad): natural history, adrenocortical component, and possible familial occurrence.","volume":"74","author":"Carney","year":"1999","journal-title":"Mayo Clin Proc"},{"key":"key\n\t\t\t\t2019041113585981100_R7","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.5858\/2006-130-1466-GSTROM","article-title":"Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.","volume":"130","author":"Miettinen","year":"2006","journal-title":"Arch Pathol Lab Med"},{"key":"key\n\t\t\t\t2019041113585981100_R8","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1002\/ajmg.10235","article-title":"Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad.","volume":"108","author":"Carney","year":"2002","journal-title":"Am J Med Genet"},{"key":"key\n\t\t\t\t2019041113585981100_R9","first-page":"203","article-title":"Gastrointestinal stromal tumor: update.","volume":"19","author":"Daum","year":"2006","journal-title":"Klinicka Onkologie"},{"key":"key\n\t\t\t\t2019041113585981100_R10","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1097\/01.pas.0000178087.69394.9f","article-title":"Functioning paraganglioma and gastrointestinal stromal tumor of the jejunum in three women: syndrome or coincidence.","volume":"30","author":"Perry","year":"2006","journal-title":"Am J Surg Pathol"},{"key":"key\n\t\t\t\t2019041113585981100_R11","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1136\/jmg.39.3.178","article-title":"Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.","volume":"39","author":"Baysal","year":"2002","journal-title":"J Med Genet"},{"key":"key\n\t\t\t\t2019041113585981100_R12","first-page":"19","volume-title":"Program of the 85th Annual Meeting of The Endocrine Society","author":"Bei","year":"2003"},{"key":"key\n\t\t\t\t2019041113585981100_R13","article-title":"Germline mutations of the genes encoding succinate dehydrogenase subunits (SDHB, SDHC, and SDHD) cause a familial form of gastrointestinal stromal tumors;","author":"Passini"},{"key":"key\n\t\t\t\t2019041113585981100_R14","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1126\/science.279.5350.577","article-title":"Gain-of-function mutations of c-kit gene in gastrointestinal stromal tumors.","volume":"279","author":"Hirota","year":"1998","journal-title":"Science"},{"key":"key\n\t\t\t\t2019041113585981100_R15","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1126\/science.1079666","article-title":"PDGFRA activating mutations in gastrointestinal stromal tumors.","volume":"299","author":"Heinrich","year":"2003","journal-title":"Science"},{"key":"key\n\t\t\t\t2019041113585981100_R16","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1053\/j.gastro.2003.10.079","article-title":"PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor.","volume":"126","author":"Chompret","year":"2004","journal-title":"Gastroenterology"},{"key":"key\n\t\t\t\t2019041113585981100_R17","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1053\/j.gastro.2006.07.002","article-title":"Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.","volume":"131","author":"de Raedt","year":"2006","journal-title":"Gastroenterology"},{"key":"key\n\t\t\t\t2019041113585981100_R18","doi-asserted-by":"crossref","first-page":"2938","DOI":"10.1210\/jc.2007-0797","article-title":"Genetics of Carney triad: recurrent losses at chromosome 1 but lack of germline mutations in genes associated with paragangliomas and gastrointestinal stromal tumors.","volume":"92","author":"Matyakhina","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113585981100_R19","doi-asserted-by":"crossref","first-page":"5357","DOI":"10.1200\/JCO.2005.14.068","article-title":"PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib.","volume":"23","author":"Corless","year":"2005","journal-title":"J Clin Oncol"},{"key":"key\n\t\t\t\t2019041113585981100_R20","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/ng1922","article-title":"PDGF signaling specificity is mediated through multiple immediate early genes.","volume":"39","author":"Schmahl","year":"2007","journal-title":"Nat Genet"}],"container-title":["The Journal of Clinical Endocrinology & Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/92\/9\/3728\/10407128\/jcem3728.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,8,15]],"date-time":"2021-08-15T00:59:32Z","timestamp":1628989172000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/92\/9\/3728\/2598384"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9,1]]},"references-count":20,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2007,9,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2007-0894","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,9,1]]}}}