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.
Table 1
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 | 5 | Cherubism | SH3PB2 mutation |
Female | 6 | Cherubism | SH3PB2 mutation |
Male | 14 | Cherubism | SH3-adjacent mutation |
Female | 4 | Cherubism | SH3PB2 mutation |
Male | 5 | Cherubism | SH3PB2 mutation |
Male | 12 | Cherubism | No SH3PB2 mutation detected |
Female | 3 | Cherubism | SH3PB2 mutation |
Male | 11 | Cherubism | SH3PB2 mutation |
Female | 9 | Cherubism | No SH3PB2 mutation detected |
Female | 14 | Cherubism | Not done |
Female | 6 | Cherubism | Not done |
Female | 24 | Neurofibromatosis | NF1 mutation |