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Germline PDGFRB p.R987W pathogenic variant in two children with brain tumors
  • +8
  • HyeRim Han,
  • Samuele Renzi,
  • Valérie Larouche,
  • Damien Faury,
  • Sylvie Langlois,
  • Daniel Sinnett,
  • Andrea Gomez,
  • Jason Karamchandani,
  • Louis Crevier,
  • William Foulkes,
  • Nada Jabado
HyeRim Han
Institut d'Investigacio Biomedica de Bellvitge

Corresponding Author:[email protected]

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Samuele Renzi
CHU de Quebec-Universite Laval
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Valérie Larouche
CHU de Quebec-Universite Laval
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Damien Faury
Mcgill University Department of Pediatrics
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Sylvie Langlois
Centre Hospitalier Universitaire Sainte-Justine Centre de Recherche
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Daniel Sinnett
Centre Hospitalier Universitaire Sainte-Justine Centre de Recherche
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Andrea Gomez
McGill University
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Jason Karamchandani
McGill University
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Louis Crevier
CHU de Quebec-Universite Laval
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William Foulkes
McGill University
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Nada Jabado
McGill University
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Abstract

Platelet-Derived Growth Factor Receptor Beta (PDGFRB) is critically implicated in development. Germline pathogenic variants (GPVs) in PDGFRB result in several distinct inherited syndromes including primary familial brain calcifications (PFBC) and infantile myofibromatosis. To date, GPVs in PDGFRB have not been identified in children with brain tumors. Here, we describe the clinicopathological features of a 9-year-old male with a medulloblastoma and an 11-year-old female with a glioma. Sequencing of the blood and tumor samples revealed the same PDGFRB c.2959C>T (p. Arg987Trp) GPV in both children. Additional fusion genes DCTN1-ALK and TRIM24-MET were also identified in the patients’ tumors through RNAseq.