{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,2]],"date-time":"2026-03-02T16:29:12Z","timestamp":1772468952876,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T00:00:00Z","timestamp":1630454400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002794","name":"Cancerfonden","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002794","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>ERBB2<\/jats:italic> gene encodes a receptor tyrosine kinase also known as HER2. The gene is amplified and overexpressed in one\u2010fifth of breast carcinomas; patients with such tumors benefit from targeted treatment with trastuzumab or other drugs blocking the receptor. In addition, <jats:italic>ERBB2<\/jats:italic> has been shown to be amplified and\/or overexpressed in a variety of other malignancies. Notably, both alveolar and embryonal rhabdomyosarcoma (RMS), especially in children, often show increased expression of ERBB2. Although high\u2010level amplification of the gene has not been described in RMS, its frequent expression at the cell surface of RMS cells has been exploited for chimeric antigen receptor T\u2010cell (CAR T)\u2010based treatment strategies. We here describe two cases of pediatric, fusion\u2010negative embryonal RMS with high\u2010level amplification of the <jats:italic>ERBB2<\/jats:italic> gene. One patient is currently treated with conventional chemotherapy for a recently detected standard risk RMS, whereas the other patient died from metastatic disease. Both tumors displayed focal amplicons (210 and 274 Kb, respectively) in chromosome band 17q12, with proximal and distal borders corresponding to those typically seen in breast cancer. In both tumors, the <jats:italic>ERBB2<\/jats:italic> amplicon correlated with high expression at the RNA and protein levels. Thus, breast cancer\u2010like <jats:italic>ERBB2<\/jats:italic> amplification is a very rare, but recurrent feature of pediatric RMS, and should be exploited as an alternative treatment target.<\/jats:p>","DOI":"10.1002\/gcc.22996","type":"journal-article","created":{"date-parts":[[2021,8,21]],"date-time":"2021-08-21T19:25:10Z","timestamp":1629573910000},"page":"5-9","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Amplification of <scp><i>ERBB2<\/i><\/scp> (<scp><i>HER2<\/i><\/scp>) in embryonal rhabdomyosarcoma: A potential treatment target in rare cases?"],"prefix":"10.1002","volume":"61","author":[{"given":"Shamik","family":"Mitra","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Division of Clinical Genetics Lund University  Lund Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia","family":"Sydow","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Division of Clinical Genetics Lund University  Lund Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Magnusson","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Division of Clinical Genetics Lund University  Lund Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Piccinelli","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine, Division of Clinical Genetics Lund University  Lund Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"T\u00f6rnudd","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Link\u00f6ping University Hospital  Link\u00f6ping Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"\u00d8ra","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology Sk\u00e5ne University Hospital  Lund 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