{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:53:31Z","timestamp":1791478411817,"version":"4.3.4"},"reference-count":24,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,11,11]],"date-time":"2018-11-11T00:00:00Z","timestamp":1541894400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"name":"German Childrens Cancer Foundation","award":["DKS 2014_17"],"award-info":[{"award-number":["DKS 2014_17"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain Pathology"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ependymoma with <jats:italic>YAP1\u2010MAMLD1<\/jats:italic> fusion is a rare, recently described supratentorial neoplasm of childhood, with few cases published so far. We report on 15 pediatric patients with ependymomas carrying <jats:italic>YAP1\u2010MAMLD1<\/jats:italic> fusions, with their characteristic histopathology, immunophenotype and molecular\/cytogenetic, radiological and clinical features. The <jats:italic>YAP1\u2010MAMLD1<\/jats:italic> fusion was documented by RT\u2010PCR\/Sanger sequencing, and tumor genomes were studied by molecular inversion probe (MIP) analysis. Significant copy number alterations were identified by GISTIC (Genomic Identification of Significant Targets in Cancer) analysis. All cases showed similar histopathological features including areas of high cellularity, presence of perivascular pseudo\u2010rosettes, small to medium\u2010sized nuclei with characteristic granular chromatin and strikingly abundant cells with dot\u2010like cytoplasmic expression of epithelial membrane antigen. Eleven cases presented features of anaplasia, corresponding to WHO grade III. MRI showed large supratentorial multinodular tumors with cystic components, heterogeneous contrast enhancement, located in the ventricular or periventricular region. One of two variants of <jats:italic>YAP1\u2010MAMLD1<\/jats:italic> fusions was detected in all cases. The MIP genome profiles showed balanced profiles, with focal alterations of the <jats:italic>YAP1<\/jats:italic> locus at 11q22.1\u201311q21.2 (7\/14), <jats:italic>MAMLD1<\/jats:italic> locus (Xp28) (10\/14) and losses of chromosome arm 22q (5\/14). Most patients were female (13\/15) and younger than 3\u00a0years at diagnosis (12\/15; median age, 8.2 months). Apart from one patient who died during surgery, all patients are alive without evidence of disease progression after receiving different treatment protocols, three without postoperative further treatment (median follow\u2010up, 4.84\u00a0years). In this to date, largest series of ependymomas with <jats:italic>YAP1\u2010MAMLD1<\/jats:italic> fusions we show that they harbor characteristic histopathological, cytogenetic and imaging features, occur mostly in young girls under 3\u00a0years and are associated with good outcome. Therefore, this genetically defined neoplasm should be considered a distinct disease entity. The diagnosis should be confirmed by demonstration of the specific fusion. Further studies on large collaborative series are warranted to confirm our findings.<\/jats:p>","DOI":"10.1111\/bpa.12659","type":"journal-article","created":{"date-parts":[[2018,9,24]],"date-time":"2018-09-24T06:18:09Z","timestamp":1537769889000},"page":"205-216","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":120,"title":["Childhood supratentorial ependymomas with <i>YAP1\u2010MAMLD1<\/i> fusion: an entity with characteristic clinical, radiological, cytogenetic and histopathological features"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2568-6155","authenticated-orcid":false,"given":"Felipe","family":"Andreiuolo","sequence":"first","affiliation":[{"name":"Institute of Neuropathology University of Bonn Medical Center Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascale","family":"Varlet","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Sainte\u2010Anne Hospital and Paris Descartes University Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnault","family":"Tauzi\u00e8de\u2010Espariat","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Sainte\u2010Anne Hospital and Paris Descartes University Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie T.","family":"J\u00fcnger","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University of Bonn Medical Center Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelyn","family":"D\u00f6rner","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University of Bonn Medical Center Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verena","family":"Dreschmann","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University of Bonn Medical Center Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Kuchelmeister","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University of Bonn Medical Center Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Waha","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University of Bonn Medical Center Bonn Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Haberler","sequence":"additional","affiliation":[{"name":"Institute of Neurology Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Slavc","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selim","family":"Corbacioglu","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology and Stem Cell Transplantation University Children's Hospital Regensburg, Regensburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Markus J.","family":"Riemenschneider","sequence":"additional","affiliation":[{"name":"Department of Neuropathology Regensburg University Hospital Regensburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfred","family":"Leipold","sequence":"additional","affiliation":[{"name":"Children's Hospital Karlsruhe Karlsruhe Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"R\u00fcdiger","sequence":"additional","affiliation":[{"name":"Institute of Pathology Hospital Karlsruhe Karlsruhe Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dieter","family":"K\u00f6rholz","sequence":"additional","affiliation":[{"name":"Division of Pediatric Hematology and Oncology, Department of Pediatrics Justus\u2010Liebig University of Giessen Giessen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Till","family":"Acker","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University of Giessen Giessen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Russo","sequence":"additional","affiliation":[{"name":"Section of Pediatric Oncology Children's Hospital, University Medical Center, Johannes Gutenberg University Mainz Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00f6rg","family":"Faber","sequence":"additional","affiliation":[{"name":"Section of Pediatric Oncology Children's Hospital, University Medical Center, Johannes Gutenberg University Mainz Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clemens","family":"Sommer","sequence":"additional","affiliation":[{"name":"Institute of Neuropathology University Medical Center, Johannes Gutenberg University Mainz Mainz Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sven","family":"Armbrust","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Adolescent Medicine Dietrich\u2010Bonhoeffer Hospital Neubrandenburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Rose","sequence":"additional","affiliation":[{"name":"University Hospital for Children and Adolescents, Johannes Wesling Hospital Minden, Ruhr University Hospital Bochum Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Erdlenbruch","sequence":"additional","affiliation":[{"name":"University Hospital for Children and Adolescents, Johannes Wesling 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