Biology (May 2024)

Paired Primary and Recurrent Rhabdoid Meningiomas: Cytogenetic Alterations, <i>BAP1</i> Gene Expression Profile and Patient Outcome

  • Patricia Alejandra Garrido Ruiz,
  • Álvaro Otero Rodriguez,
  • Luis Antonio Corchete,
  • Victoria Zelaya Huerta,
  • Alejandro Pasco Peña,
  • Cristina Caballero Martínez,
  • Joaquín González-Carreró Fojón,
  • Inmaculada Catalina Fernández,
  • Juan Carlos López Duque,
  • Laura Zaldumbide Dueñas,
  • Lorena Mosteiro González,
  • María Aurora Astudillo,
  • Aurelio Hernández-Laín,
  • Emma Natalia Camacho Urkaray,
  • María Amparo Viguri Diaz,
  • Alberto Orfao,
  • María Dolores Tabernero

DOI
https://doi.org/10.3390/biology13050350
Journal volume & issue
Vol. 13, no. 5
p. 350

Abstract

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Rhabdoid meningiomas (RM) are a rare meningioma subtype with a heterogeneous clinical course which is more frequently associated with recurrence, even among tumors undergoing-complete surgical removal. Here, we retrospectively analyzed the clinical-histopathological and cytogenetic features of 29 tumors, from patients with recurrent (seven primary and 14 recurrent tumors) vs. non-recurrent RM (n = 8). Recurrent RM showed one (29%), two (29%) or three (42%) recurrences. BAP1 loss of expression was found in one third of all RM at diagnosis and increased to 100% in subsequent tumor recurrences. Despite both recurrent and non-recurrent RM shared chromosome 22 losses, non-recurrent tumors more frequently displayed extensive losses of chromosome 19p (62%) and/or 19q (50%), together with gains of chromosomes 20 and 21 (38%, respectively), whereas recurrent RM (at diagnosis) displayed more complex genotypic profiles with extensive losses of chromosomes 1p, 14q, 18p, 18q (67% each) and 21p (50%), together with focal gains at chromosome 17q22 (67%). Compared to paired primary tumors, recurrent RM samples revealed additional losses at chromosomes 16q and 19p (50% each), together with gains at chromosomes 1q and 17q in most recurrent tumors (67%, each). All deceased recurrent RM patients corresponded to women with chromosome 17q gains, although no statistical significant differences were found vs. the other RM patients.

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