Orbital nodular fasciitis in child with biallelic germline RBL2 variant

Jonathan Rips, Bassam Abu-Libdeh, Benjamin Z. Koplewitz, Shay Kehat-Ophir, Shahar Frenkel, Orly Elpeleg, Tamar Harel*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

RBL2/p130 is one of three highly conserved members of the retinoblastoma (RB) protein family. It is strongly upregulated during neuronal differentiation and brain development, and is critical for survival of post-mitotic neurons. Similar to RB1, it has been implicated as a tumor suppressor gene and has been shown to be dysregulated in various types of cancer. Recent publications describe biallelic, germline loss of function variants in RBL2 in individuals with profound developmental delay. We report a child with profound developmental delay, microcephaly, and hypotonia, who developed fulminant exophthalmos at age 6 years. Brain MRI followed by a biopsy of an intra-orbital mass revealed a mesenchymal tumor. Post-surgical histopathologic examination of the resected tumor was compatible with diagnosis of nodular fasciitis. Exome sequencing from peripheral blood identified a biallelic frameshift variant (c.901dupT) in RBL2. Notably, no malignancies were reported in previous cases with RBL2 variants. This case provides a possible association between RBL2 and orbital tumors.

Original languageEnglish
Article number104513
JournalEuropean Journal of Medical Genetics
Volume65
Issue number6
DOIs
StatePublished - Jun 2022

Bibliographical note

Publisher Copyright:
© 2022 Elsevier Masson SAS

Keywords

  • Exome sequencing
  • Mesenchymal tumor
  • Orbital mass
  • RBL2

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