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Kommoss, Felix KF; Chang, Kenneth TE; Stichel, Damian; Banito, Ana; Jones, David TW; Heilig, Christoph E; Fröhling, Stefan; Sahm, Felix; Stenzinger, Albrecht; Hartmann, Wolfgang; Mechtersheimer, Gunhild; Sinn, Hans‐Peter; Schmidt, Dietmar; Kommoss, Friedrich; von Deimling, Andreas; Koelsche, Christian

Endometrial stromal sarcomas with BCOR‐rearrangement harbor MDM2 amplifications

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  • Medientyp: E-Artikel
  • Titel: Endometrial stromal sarcomas with BCOR‐rearrangement harbor MDM2 amplifications
  • Beteiligte: Kommoss, Felix KF; Chang, Kenneth TE; Stichel, Damian; Banito, Ana; Jones, David TW; Heilig, Christoph E; Fröhling, Stefan; Sahm, Felix; Stenzinger, Albrecht; Hartmann, Wolfgang; Mechtersheimer, Gunhild; Sinn, Hans‐Peter; Schmidt, Dietmar; Kommoss, Friedrich; von Deimling, Andreas; Koelsche, Christian
  • Erschienen: Wiley, 2020
  • Erschienen in: The Journal of Pathology: Clinical Research
  • Sprache: Englisch
  • DOI: 10.1002/cjp2.165
  • ISSN: 2056-4538
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title><jats:p>Recently a novel subtype of endometrial stromal sarcoma (ESS) defined by recurrent genomic alterations involving <jats:italic>BCOR</jats:italic> has been described (HGESS‐BCOR). We identified a case of HGESS‐BCOR with a <jats:italic>ZC3H7B‐BCOR</jats:italic> gene fusion, which harbored an amplification of the <jats:italic>MDM2</jats:italic> locus. This index case prompted us to investigate <jats:italic>MDM2</jats:italic> amplification in four additional cases of HGESS‐BCOR. Tumors were analyzed for <jats:italic>MDM2</jats:italic> amplification by array‐based profiling of copy number alterations (CNAs) and fluorescence <jats:italic>in situ</jats:italic> hybridization (FISH), as well as for MDM2 expression by immunohistochemistry (IHC). Additionally, a cohort of other mesenchymal uterine neoplasms, including 17 low‐grade ESS, 6 classical high‐grade ESS with <jats:italic>YWHAE</jats:italic>‐rearrangement, 16 uterine tumors resembling ovarian sex cord tumors, 7 uterine leiomyomas and 8 uterine leiomyosarcomas, was analyzed for CNAs in <jats:italic>MDM2</jats:italic>. Copy number profiling identified amplification of the 12q15 region involving the <jats:italic>MDM2</jats:italic> locus in all five HGESS‐BCOR. Subsequent validation analyses of three tumors confirmed <jats:italic>MDM2</jats:italic> amplification using <jats:italic>MDM2</jats:italic> FISH. Accordingly, IHC showed MDM2 overexpression in all analyzed cases. None of the other uterine neoplasms in our series, including tumors that are in the histopathological differential diagnoses of HGESS‐BCOR, showed copy number gains of <jats:italic>MDM2</jats:italic>. Together, our results indicate that HGESS‐BCOR carries <jats:italic>MDM2</jats:italic> amplifications, which has diagnostic implications and could potentially be used for targeted therapies in these clinically aggressive tumors.</jats:p>
  • Zugangsstatus: Freier Zugang