{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:16:05Z","timestamp":1791821765509,"version":"4.3.4"},"reference-count":43,"publisher":"Springer Science and Business Media LLC","issue":"25","license":[{"start":{"date-parts":[[2015,10,12]],"date-time":"2015-10-12T00:00:00Z","timestamp":1444608000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2015,10,12]],"date-time":"2015-10-12T00:00:00Z","timestamp":1444608000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Oncogene"],"published-print":{"date-parts":[[2016,6,23]]},"DOI":"10.1038\/onc.2015.383","type":"journal-article","created":{"date-parts":[[2015,10,12]],"date-time":"2015-10-12T10:15:05Z","timestamp":1444644905000},"page":"3239-3248","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":77,"title":["PDGFRB mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib"],"prefix":"10.1038","volume":"35","author":[{"given":"F A","family":"Arts","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Chand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Pecquet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A I","family":"Velghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Constantinescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Hallberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J-B","family":"Demoulin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,10,12]]},"reference":[{"key":"BFonc2015383_CR1","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1002\/ajmg.a.20598","volume":"126A","author":"DJ Zand","year":"2004","unstructured":"Zand DJ, Huff D, Everman D, Russell K, Saitta S, McDonald-McGinn D et al. Autosomal dominant inheritance of infantile myofibromatosis. Am J Med Genet A 2004; 126A: 261\u2013266.","journal-title":"Am J Med Genet A"},{"key":"BFonc2015383_CR2","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1016\/j.jaad.2014.03.035","volume":"71","author":"J Mashiah","year":"2014","unstructured":"Mashiah J, Hadj-Rabia S, Dompmartin A, Harroche A, Laloum-Grynberg E, Wolter M et al. Infantile myofibromatosis: a series of 28 cases. J Am Acad Dermatol 2014; 71: 264\u2013270.","journal-title":"J Am Acad Dermatol"},{"key":"BFonc2015383_CR3","doi-asserted-by":"crossref","first-page":"981","DOI":"10.1542\/peds.76.6.981","volume":"76","author":"TE Wiswell","year":"1985","unstructured":"Wiswell TE, Sakas EL, Stephenson SR, Lesica JJ, Reddoch SR . Infantile myofibromatosis. Pediatrics 1985; 76: 981\u2013984.","journal-title":"Pediatrics"},{"key":"BFonc2015383_CR4","doi-asserted-by":"publisher","first-page":"643","DOI":"10.1007\/s00401-005-1007-7","volume":"109","author":"J Miklossy","year":"2005","unstructured":"Miklossy J, Mackenzie IR, Dorovini-Zis K, Calne DB, Wszolek ZK, Klegeris et al. Severe vascular disturbance in a case of familial brain calcinosis. Acta Neuropathol 2005; 109: 643\u2013653.","journal-title":"Acta Neuropathol"},{"key":"BFonc2015383_CR5","first-page":"229","volume":"73","author":"P Ang","year":"2004","unstructured":"Ang P, Tay YK, Walford NQ . Infantile myofibromatosis: a case report and review of the literature. Cutis 2004; 73: 229\u2013231.","journal-title":"Cutis"},{"key":"BFonc2015383_CR6","doi-asserted-by":"publisher","first-page":"1807","DOI":"10.1002\/1097-0142(19811015)48:8<1807::AID-CNCR2820480818>3.0.CO;2-G","volume":"48","author":"EB Chung","year":"1981","unstructured":"Chung EB, Enzinger FM . Infantile myofibromatosis. Cancer 1981; 48: 1807\u20131818.","journal-title":"Cancer"},{"key":"BFonc2015383_CR7","doi-asserted-by":"publisher","first-page":"1294","DOI":"10.1002\/cncr.2820690537","volume":"69","author":"M Bracko","year":"1992","unstructured":"Bracko M, Cindro L, Golouh R . Familial occurrence of infantile myofibromatosis. Cancer 1992; 69: 1294\u20131299.","journal-title":"Cancer"},{"key":"BFonc2015383_CR8","doi-asserted-by":"publisher","first-page":"1001","DOI":"10.1016\/j.ajhg.2013.04.024","volume":"92","author":"JA Martignetti","year":"2013","unstructured":"Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC et al. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet 2013; 92: 1001\u20131007.","journal-title":"Am J Hum Genet"},{"key":"BFonc2015383_CR9","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1016\/j.ajhg.2013.04.026","volume":"92","author":"YH Cheung","year":"2013","unstructured":"Cheung YH, Gayden T, Campeau PM, Leduc CA, Russo D, Nguyen VH et al. A recurrent PDGFRB mutation causes familial infantile myofibromatosis. Am J Hum Genet 2013; 92: 996\u20131000.","journal-title":"Am J Hum Genet"},{"key":"BFonc2015383_CR10","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/j.cytogfr.2014.03.003","volume":"25","author":"JB Demoulin","year":"2014","unstructured":"Demoulin JB, Essaghir A . PDGF receptor signaling networks in normal and cancer cells. Cytokine Growth Factor Rev 2014; 25: 273\u2013283.","journal-title":"Cytokine Growth Factor Rev"},{"key":"BFonc2015383_CR11","doi-asserted-by":"publisher","first-page":"1276","DOI":"10.1101\/gad.1653708","volume":"22","author":"J Andrae","year":"2008","unstructured":"Andrae J, Gallini R, Betsholtz C . Role of platelet-derived growth factors in physiology and medicine. Genes Dev 2008; 22: 1276\u20131312.","journal-title":"Genes Dev"},{"key":"BFonc2015383_CR12","doi-asserted-by":"crossref","first-page":"2691","DOI":"10.1242\/dev.124.14.2691","volume":"124","author":"P Soriano","year":"1997","unstructured":"Soriano P . The PDGF alpha receptor is required for neural crest cell development and for normal patterning of the somites. Development 1997; 124: 2691\u20132700.","journal-title":"Development"},{"key":"BFonc2015383_CR13","doi-asserted-by":"publisher","first-page":"1888","DOI":"10.1101\/gad.8.16.1888","volume":"8","author":"P Soriano","year":"1994","unstructured":"Soriano P . Abnormal kidney development and hematological disorders in PDGF beta-receptor mutant mice. Genes Dev 1994; 8: 1888\u20131896.","journal-title":"Genes Dev"},{"key":"BFonc2015383_CR14","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1038\/nrc3371","volume":"12","author":"K Verstraete","year":"2012","unstructured":"Verstraete K, Savvides SN . Extracellular assembly and activation principles of oncogenic class III receptor tyrosine kinases. Nat Rev Cancer 2012; 12: 753\u2013766.","journal-title":"Nat Rev Cancer"},{"key":"BFonc2015383_CR15","doi-asserted-by":"publisher","first-page":"19732","DOI":"10.1074\/jbc.M314070200","volume":"279","author":"F Chiara","year":"2004","unstructured":"Chiara F, Bishayee S, Heldin CH, Demoulin JB . Autoinhibition of the platelet-derived growth factor beta-receptor tyrosine kinase by its C-terminal tail. J Biol Chem 2004; 279: 19732\u201319738.","journal-title":"J Biol Chem"},{"key":"BFonc2015383_CR16","doi-asserted-by":"publisher","first-page":"2429","DOI":"10.1182\/blood-2010-04-279752","volume":"116","author":"F Toffalini","year":"2010","unstructured":"Toffalini F, Demoulin JB . New insights into the mechanisms of hematopoietic cell transformation by activated receptor tyrosine kinases. Blood 2010; 116: 2429\u20132437.","journal-title":"Blood"},{"key":"BFonc2015383_CR17","first-page":"F79","volume":"1378","author":"CH Heldin","year":"1998","unstructured":"Heldin CH, Ostman A, Ronnstrand L . Signal transduction via platelet-derived growth factor receptors. Biochim Biophys Acta 1998; 1378: F79\u2013F113.","journal-title":"Biochim Biophys Acta"},{"key":"BFonc2015383_CR18","first-page":"947451","volume":"2014","author":"S Lacerda Lda","year":"2014","unstructured":"Lacerda Lda S, Alves UD, Zanier JF, Machado DC, Camilo GB, Lopes AJ . Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations. Radiol Res Pract 2014; 2014: 947451.","journal-title":"Radiol Res Pract"},{"key":"BFonc2015383_CR19","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1016\/j.jpeds.2014.10.015","volume":"166","author":"T Takenouchi","year":"2015","unstructured":"Takenouchi T, Yamaguchi Y, Tanikawa A, Kosaki R, Okano H, Kosaki K . Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation. J Pediatr 2015; 166: 483\u2013486.","journal-title":"J Pediatr"},{"key":"BFonc2015383_CR20","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1186\/1478-811X-11-97","volume":"11","author":"CH Heldin","year":"2013","unstructured":"Heldin CH . Targeting the PDGF signaling pathway in tumor treatment. Cell Commun Signal 2013; 11: 97.","journal-title":"Cell Commun Signal"},{"key":"BFonc2015383_CR21","doi-asserted-by":"publisher","first-page":"42516","DOI":"10.1074\/jbc.M406051200","volume":"279","author":"F Chiara","year":"2004","unstructured":"Chiara F, Goumans MJ, Forsberg H, Ahgren A, Rasola A, Aspenstrom P et al. A gain of function mutation in the activation loop of platelet-derived growth factor beta-receptor deregulates its kinase activity. J Biol Chem 2004; 279: 42516\u201342527.","journal-title":"J Biol Chem"},{"key":"BFonc2015383_CR22","doi-asserted-by":"publisher","first-page":"1052","DOI":"10.1038\/leu.2010.13","volume":"24","author":"S Medves","year":"2010","unstructured":"Medves S, Duhoux FP, Ferrant A, Toffalini F, Ameye G, Libouton JM et al. KANK1, a candidate tumor suppressor gene, is fused to PDGFRB in an imatinib-responsive myeloid neoplasm with severe thrombocythemia. Leukemia 2010; 24: 1052\u20131055.","journal-title":"Leukemia"},{"key":"BFonc2015383_CR23","doi-asserted-by":"publisher","first-page":"1201","DOI":"10.1056\/NEJMoa025217","volume":"348","author":"J Cools","year":"2003","unstructured":"Cools J, DeAngelo DJ, Gotlib J, Stover EH, Legare RD, Cortes J et al. A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 2003; 348: 1201\u20131214.","journal-title":"N Engl J Med"},{"key":"BFonc2015383_CR24","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1212\/WNL.0b013e31827ccf34","volume":"80","author":"G Nicolas","year":"2013","unstructured":"Nicolas G, Pottier C, Maltete D, Coutant S, Rovelet-Lecrux A, Legallic S et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology 2013; 80: 181\u2013187.","journal-title":"Neurology"},{"key":"BFonc2015383_CR25","doi-asserted-by":"publisher","first-page":"3395","DOI":"10.1093\/brain\/awt255","volume":"136","author":"G Nicolas","year":"2013","unstructured":"Nicolas G, Pottier C, Charbonnier C, Guyant-Marechal L, Le Ber I, Pariente J et al. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain 2013; 136: 3395\u20133407.","journal-title":"Brain"},{"key":"BFonc2015383_CR26","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1111\/jcmm.12443","volume":"19","author":"FA Arts","year":"2015","unstructured":"Arts FA, Velghe AI, Stevens M, Renauld JC, Essaghir A, Demoulin JB . Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling. J Cell Mol Med 2015; 19: 239\u2013248.","journal-title":"J Cell Mol Med"},{"key":"BFonc2015383_CR27","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1042\/BJ20101796","volume":"440","author":"C Schonherr","year":"2011","unstructured":"Schonherr C, Ruuth K, Yamazaki Y, Eriksson T, Christensen J, Palmer RH et al. Activating ALK mutations found in neuroblastoma are inhibited by Crizotinib and NVP-TAE684. Biochem J 2011; 440: 405\u2013413.","journal-title":"Biochem J"},{"key":"BFonc2015383_CR28","doi-asserted-by":"publisher","first-page":"1090","DOI":"10.1016\/S0016-5085(98)70079-4","volume":"115","author":"M Nakahara","year":"1998","unstructured":"Nakahara M, Isozaki K, Hirota S, Miyagawa J, Hase-Sawada N, Taniguchi M et al. A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors. Gastroenterology 1998; 115: 1090\u20131095.","journal-title":"Gastroenterology"},{"key":"BFonc2015383_CR29","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1126\/science.1079666","volume":"299","author":"MC Heinrich","year":"2003","unstructured":"Heinrich MC, Corless CL, Duensing A, McGreevey L, Chen CJ, Joseph N et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science 2003; 299: 708\u2013710.","journal-title":"Science"},{"key":"BFonc2015383_CR30","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1387\/ijdb.072301cl","volume":"51","author":"C Looman","year":"2007","unstructured":"Looman C, Sun T, Yu Y, Zieba A, Ahgren A, Feinstein R et al. An activating mutation in the PDGF receptor-beta causes abnormal morphology in the mouse placenta. Int J Dev Biol 2007; 51: 361\u2013370.","journal-title":"Int J Dev Biol"},{"key":"BFonc2015383_CR31","doi-asserted-by":"crossref","first-page":"9129","DOI":"10.1016\/S0021-9258(18)60502-2","volume":"264","author":"MT Keating","year":"1989","unstructured":"Keating MT, Harryman CC, Williams LT . Platelet-derived growth factor receptor inducibility is acquired immediately after translation and does not require glycosylation. J Biol Chem 1989; 264: 9129\u20139132.","journal-title":"J Biol Chem"},{"key":"BFonc2015383_CR32","first-page":"3971","volume":"60","author":"JB Demoulin","year":"2000","unstructured":"Demoulin JB, Uyttenhove C, Lejeune D, Mui A, Groner B, Renauld JC . STAT5 activation is required for interleukin-9-dependent growth and transformation of lymphoid cells. Cancer Res 2000; 60: 3971\u20133977.","journal-title":"Cancer Res"},{"key":"BFonc2015383_CR33","doi-asserted-by":"publisher","first-page":"2568","DOI":"10.1038\/onc.2013.218","volume":"33","author":"AI Velghe","year":"2014","unstructured":"Velghe AI, Van Cauwenberghe S, Polyansky AA, Chand D, Montano-Almendras CP, Charni S et al. PDGFRA alterations in cancer: characterization of a gain-of-function V536E transmembrane mutant as well as loss-of-function and passenger mutations. Oncogene 2014; 33: 2568\u20132576.","journal-title":"Oncogene"},{"key":"BFonc2015383_CR34","doi-asserted-by":"publisher","first-page":"5357","DOI":"10.1200\/JCO.2005.14.068","volume":"23","author":"CL Corless","year":"2005","unstructured":"Corless CL, Schroeder A, Griffith D, Town A, McGreevey L, Harrell P et al. PDGFRA mutations in gastrointestinal stromal tumors: frequency, spectrum and in vitro sensitivity to imatinib. J Clin Oncol 2005; 23: 5357\u20135364.","journal-title":"J Clin Oncol"},{"key":"BFonc2015383_CR35","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1182\/blood-2006-05-024828","volume":"109","author":"M David","year":"2007","unstructured":"David M, Cross NC, Burgstaller S, Chase A, Curtis C, Dang R et al. Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders. Blood 2007; 109: 61\u201364.","journal-title":"Blood"},{"key":"BFonc2015383_CR36","doi-asserted-by":"publisher","first-page":"369","DOI":"10.1007\/s00228-009-0779-4","volume":"66","author":"A Li-Wan-Po","year":"2010","unstructured":"Li-Wan-Po A, Farndon P, Craddock C, Griffiths M . Integrating pharmacogenetics and therapeutic drug monitoring: optimal dosing of imatinib as a case-example. Eur J Clin Pharmacol 2010; 66: 369\u2013374.","journal-title":"Eur J Clin Pharmacol"},{"key":"BFonc2015383_CR37","doi-asserted-by":"publisher","first-page":"6287","DOI":"10.4238\/2014.August.15.11","volume":"13","author":"ND Linhares","year":"2014","unstructured":"Linhares ND, Freire MC, Cardenas RG, Bahia M, Puzenat E, Aubin F et al. Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG? Genet Mol Res 2014; 13: 6287\u20136292.","journal-title":"Genet Mol Res"},{"key":"BFonc2015383_CR38","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1038\/sj.ejhg.5201026","volume":"11","author":"KT Barker","year":"2003","unstructured":"Barker KT, Houlston RS . Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism? Eur J Hum Genet 2003; 11: 665\u2013670.","journal-title":"Eur J Hum Genet"},{"key":"BFonc2015383_CR39","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1056\/NEJMoa1104017","volume":"365","author":"MJ Lindhurst","year":"2011","unstructured":"Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 2011; 365: 611\u2013619.","journal-title":"N Engl J Med"},{"key":"BFonc2015383_CR40","doi-asserted-by":"publisher","first-page":"3206","DOI":"10.1016\/j.ejca.2014.10.007","volume":"50","author":"F Millot","year":"2014","unstructured":"Millot F, Guilhot J, Baruchel A, Petit A, Leblanc T, Bertrand Y et al. Growth deceleration in children treated with imatinib for chronic myeloid leukaemia. Eur J Cancer 2014; 50: 3206\u20133211.","journal-title":"Eur J Cancer"},{"key":"BFonc2015383_CR41","doi-asserted-by":"publisher","first-page":"1763","DOI":"10.1038\/sj.onc.1206253","volume":"22","author":"JB Demoulin","year":"2003","unstructured":"Demoulin JB, Louahed J, Dumoutier L, Stevens M, Renauld JC . MAP kinase activation by interleukin-9 in lymphoid and mast cell lines. Oncogene 2003; 22: 1763\u20131770.","journal-title":"Oncogene"},{"key":"BFonc2015383_CR42","doi-asserted-by":"publisher","first-page":"728","DOI":"10.1016\/j.molonc.2014.02.003","volume":"8","author":"LA Noel","year":"2014","unstructured":"Noel LA, Arts FA, Montano-Almendras CP, Cox L, Gielen O, Toffalini F et al. The tyrosine phosphatase SHP2 is required for cell transformation by the receptor tyrosine kinase mutants FIP1L1-PDGFRalpha and PDGFRalpha D842V. Mol Oncol 2014; 8: 728\u2013740.","journal-title":"Mol Oncol"},{"key":"BFonc2015383_CR43","doi-asserted-by":"publisher","first-page":"1406","DOI":"10.3324\/haematol.2011.040147","volume":"96","author":"S Medves","year":"2011","unstructured":"Medves S, Noel LA, Montano-Almendras CP, Albu RI, Schoemans H, Constantinescu SN et al. Multiple oligomerization domains of KANK1-PDGFRbeta are required for JAK2-independent hematopoietic cell proliferation and signaling via STAT5 and ERK. Haematologica 2011; 96: 1406\u20131414.","journal-title":"Haematologica"}],"container-title":["Oncogene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/onc2015383.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/onc2015383","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/onc2015383.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,21]],"date-time":"2022-03-21T20:38:46Z","timestamp":1647895126000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/onc2015383"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,10,12]]},"references-count":43,"journal-issue":{"issue":"25","published-print":{"date-parts":[[2016,6,23]]}},"alternative-id":["BFonc2015383"],"URL":"https:\/\/doi.org\/10.1038\/onc.2015.383","relation":{},"ISSN":["0950-9232","1476-5594"],"issn-type":[{"value":"0950-9232","type":"print"},{"value":"1476-5594","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,10,12]]},"assertion":[{"value":"15 May 2015","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 August 2015","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 September 2015","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 October 2015","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}