{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T17:44:27Z","timestamp":1793641467914,"version":"4.5.1"},"reference-count":27,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:p>\n                    Infantile myofibroma (MF) is an uncommon benign myofibroblastic tumor of infancy and childhood. Solitary adult MF shares similar features with infantile MF. The lesions occur in 3 clinicopathologic settings: solitary, multicentric, and generalized and can be either sporadic or familial. Traditionally, infantile MF has been included in the spectrum of infantile hemangiopericytoma. The recent World Health Organization classification listed MF, angioleiomyoma, and myopericytoma under the general heading of\n                    <jats:italic toggle=\"yes\">perivascular tumors<\/jats:italic>\n                    in the sense of a morphologic spectrum of\n                    <jats:italic toggle=\"yes\">perivascular myoid cell neoplasms<\/jats:italic>\n                    . Although activating germline\n                    <jats:italic toggle=\"yes\">PDGFRB<\/jats:italic>\n                    mutations have recently been linked to familial infantile MF, the molecular pathogenesis of sporadic infantile and adult solitary MF remained unclear. In this study, we analyzed 25 solitary MFs without evidence of familial disease (9 infantile and 16 adult MFs) to address the question whether somatic\n                    <jats:italic toggle=\"yes\">PDGFRB<\/jats:italic>\n                    mutations might be responsible for the sporadic form of the disease. Given the presumed histogenetic link of MF to myopericytoma and angioleiomyoma, we additionally analyzed a control group of 6 myopericytomas and 9 angioleiomyomas for\n                    <jats:italic toggle=\"yes\">PDGFRB<\/jats:italic>\n                    mutations. We detected\n                    <jats:italic toggle=\"yes\">PDGFRB<\/jats:italic>\n                    mutations in 6\/8 (75%) analyzable infantile and in 11\/16 (69%) adult MFs but in none of the angioleiomyomas or myopericytomas. In 2 infantile MFs, additional sequencing of the germline confirmed the somatic nature of\n                    <jats:italic toggle=\"yes\">PDGFRB<\/jats:italic>\n                    mutations. To our knowledge, this is the first study reporting apparently somatic recurrent\n                    <jats:italic toggle=\"yes\">PDGFRB<\/jats:italic>\n                    mutations as molecular driver events in the majority of sporadic infantile and adult solitary MFs. Our results suggest molecular distinctness of MF as compared with angioleiomyoma\/myopericytoma. Investigation of more cases including those with atypical and worrisome features, as well as other mimickers in the heterogenous morphologic spectrum of MF, is mandatory for validating the potential diagnostic value of\n                    <jats:italic toggle=\"yes\">PDGFRB<\/jats:italic>\n                    mutation testing as a possible surrogate in difficult-to-classify lesions.\n                  <\/jats:p>","DOI":"10.1097\/pas.0000000000000752","type":"journal-article","created":{"date-parts":[[2016,10,22]],"date-time":"2016-10-22T07:55:41Z","timestamp":1477122941000},"page":"195-203","source":"Crossref","is-referenced-by-count":99,"title":["Recurrent Somatic PDGFRB Mutations in Sporadic Infantile\/Solitary Adult Myofibromas But Not in Angioleiomyomas and Myopericytomas"],"prefix":"10.1097","volume":"41","author":[{"given":"Abbas","family":"Agaimy","sequence":"first","affiliation":[{"name":"Institute of Pathology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Bieg","sequence":"additional","affiliation":[{"name":"Division of Theoretical Bioinformatics (B080)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Michal","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine in Plzen and Charles University Hospital, Biomedical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helene","family":"Geddert","sequence":"additional","affiliation":[{"name":"Institute of Pathology, St. Vincent\u2019s Hospital, Karlsruhe"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"M\u00e4rkl","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Klinikum Augsburg, Augsburg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Seitz","sequence":"additional","affiliation":[{"name":"Institute of Pathology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgeny A.","family":"Moskalev","sequence":"additional","affiliation":[{"name":"Institute of Pathology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Schlesner","sequence":"additional","affiliation":[{"name":"Division of Theoretical Bioinformatics (B080)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus","family":"Metzler","sequence":"additional","affiliation":[{"name":"Department of Paediatrics, University Hospital, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arndt","family":"Hartmann","sequence":"additional","affiliation":[{"name":"Institute of Pathology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Wiemann","sequence":"additional","affiliation":[{"name":"Division Molecular Genome Analysis"},{"name":"Genomics & Proteomics Core Facility, German Cancer Research Center (DKFZ), Heidelberg"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michal","family":"Michal","sequence":"additional","affiliation":[{"name":"Department of Pathology, Faculty of Medicine, Charles University, Plzen, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Mentzel","sequence":"additional","affiliation":[{"name":"Dermatopathologische Gemeinschaftspraxis, Friedrichshafen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florian","family":"Haller","sequence":"additional","affiliation":[{"name":"Institute of Pathology"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-20230922","doi-asserted-by":"crossref","first-page":"1807","DOI":"10.1002\/1097-0142(19811015)48:8<1807::AID-CNCR2820480818>3.0.CO;2-G","article-title":"Infantile myofibromatosis","volume":"48","author":"Chung","year":"1981","journal-title":"Cancer"},{"key":"R2-20230922","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1365-2559.2012.04221.x","article-title":"Solitary, multifocal and generalized myofibromas: clinicopathological and immunohistochemical features of 114 cases","volume":"60","author":"Oudijk","year":"2012","journal-title":"Histopathology"},{"key":"R3-20230922","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1097\/00000478-198910000-00005","article-title":"Myofibromatosis in adults (adult counterpart of infantile myofibromatosis)","volume":"13","author":"Daimaru","year":"1989","journal-title":"Am J Surg Pathol"},{"key":"R4-20230922","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1111\/j.1365-2559.1993.tb00132.x","article-title":"Solitary myofibroma in adults: clinicopathological analysis of a series","volume":"22","author":"Beham","year":"1993","journal-title":"Histopathology"},{"key":"R5-20230922","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1097\/00000478-199409000-00007","article-title":"Infantile hemangiopericytoma versus infantile myofibromatosis. 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Myopericytes as a subset of \u201cmyofibroblasts\u201d","volume":"16","author":"Dictor","year":"1992","journal-title":"Am J Surg Pathol"}],"container-title":["American Journal of Surgical Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00000478-201702000-00007","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,22]],"date-time":"2023-09-22T18:17:32Z","timestamp":1695406652000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00000478-201702000-00007"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2]]},"references-count":27,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017]]}},"URL":"https:\/\/doi.org\/10.1097\/pas.0000000000000752","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.726881412.793554198","asserted-by":"object"}]},"ISSN":["0147-5185"],"issn-type":[{"value":"0147-5185","type":"print"}],"subject":[],"published":{"date-parts":[[2017,2]]}}}