TY - JOUR
T1 - Orbital nodular fasciitis in child with biallelic germline RBL2 variant
AU - Rips, Jonathan
AU - Abu-Libdeh, Bassam
AU - Koplewitz, Benjamin Z.
AU - Kehat-Ophir, Shay
AU - Frenkel, Shahar
AU - Elpeleg, Orly
AU - Harel, Tamar
N1 - Publisher Copyright:
© 2022 Elsevier Masson SAS
PY - 2022/6
Y1 - 2022/6
N2 - 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.
AB - 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.
KW - Exome sequencing
KW - Mesenchymal tumor
KW - Orbital mass
KW - RBL2
UR - http://www.scopus.com/inward/record.url?scp=85129682906&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2022.104513
DO - 10.1016/j.ejmg.2022.104513
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C2 - 35487417
AN - SCOPUS:85129682906
SN - 1769-7212
VL - 65
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 6
M1 - 104513
ER -