We read the article entitled “SH3BP2-encoding exons involved in cherubism are not associated with central giant cell granuloma” by Teixeira et al. with great interest . They claim that SH3BP2-encoding exons, as involved in cherubism, are not associated with central giant cell granuloma (CGCG). However, only patients with a solitary lesion were included in their study. In the case of multiple lesions, we have observed a relationship with cherubism and RASopathies. Extensive reviews on these conditions have been published by Hyckel et al. and Rauen .
An analysis of all 58 patients with CGCG seen in our department identified 16 patients with multiple lesions. Details of these 16 patients are given in Table 1 below.
|Sex||Age, years||Symptoms||Genetic analysis|
|Female||13||Noonan syndrome||PTPN11 mutation|
|Male||8||Noonan syndrome||SOS1 mutation|
|Female||13||Noonan syndrome||No KRAS/PTPN11/HRAS/SOS1 mutations detected|
|Male||10||Noonan syndrome with multiple lentigines||PPN11 mutation|
|Male||12||Cherubism||No SH3PB2 mutation detected|
|Female||9||Cherubism||No SH3PB2 mutation detected|