Unilateral giant cell lesion of the jaw in Noonan syndrome

Abstract

noonan syndrome (ns) is an etiologically heterogeneous disorder caused by mutations in the ras-maPK signaling pathway. noonan-like/multiple giant Cell lesion (nl/mgCl) syndrome is initially described as the occurrence of multiple gnathic giant cell lesions in patients with phenotypic features of ns. nowadays, ns/mgCl syndrome is considered a variant of the ns spectrum rather than a distinct entity. we report the case of a 14-year-old female patient carrying a SOS1 mutation with a unilateral giant cell lesion of the right mandible. Cross-sectional imaging such as Ct and mri are not specific for the diagnosis of oral giant cell lesions. nonetheless, intralesional scattered foci of low si on t2-wi, corresponding to hemosiderin deposits due to hemorrhage, can help the radiologist in narrowing down the differential diagnosis of gnathic lesions in patients with ns. Key-word: jaws.From: 1.

Phenotype–genotype analysis of 242 individuals with RASopathies: 18‐year experience of a tertiary center in Brazil

“…Karbach et al (2012) noticed that individuals harboring variants in SOS1 were overrepresented in the group with GCL. Since their report, five other cases have been described in the literature (Carapito et al, 2014; Eyselbergs et al, 2014; Lutz et al, 2020; Rodríguez, Castellón, Moreno, Paez, & Aracena Álvarez, 2020; Sinnott & Patel, 2018) and including the present data, there are 16 individuals with variants in PTPN11 and 15 individuals with variants in SOS1 , giving further support to the idea that individuals harboring variants in SOS1 could present a higher risk for the development of GCL compared with the ones with variants in PTPN11 .…”

“…Karbach et al (2012) noticed that individuals harboring variants in SOS1 were overrepresented in the group with GCL. Since their report, five other cases have been described in the literature (Carapito et al, 2014;Eyselbergs et al, 2014;Lutz et al, 2020;Rodríguez, Castellón, Moreno, Paez, & Aracena Alvarez, 2020;Sinnott & Patel, 2018) and (Figure 3). Iliac bone lesions in NS are uncommon.…”

The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor

“…Patient 1 had three separate giant cell tumors in the naso‐maxilla. Giant cell tumors of the jaws and other bone/soft tissues have repeatedly been reported in patients with NS and mutations in PTPN11 and SOS1 (Eyselbergs et al, ; Karbach, Coerdt, Wagner, & Bartsch, ; Neumann et al, ; van den Berg et al, ). These tumors are often multilocular.…”

Imaging of Radiolucent Jaw Lesions

“…Multifocal involvement is seen in hyperparathyroidism, cherubism, or Noonan's syndrome. 38 The most common radiographic findings are complete or partial loss of lamina dura of the teeth and ground-glass appearance of the jaw bones. Rarely, lytic lesions in the jaws may present as reparative giant cell granulomas, 39 characterized by bone expansion and cortical thinning.…”