Multiple central giant cell tumour lesions are exclusively linked to syndromes related to RAS/MAPK pathway anomalies

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
Characteristics of the 16 patients with multiple central giant cell granuloma lesions.
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
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Dec 14, 2017 | Posted by in Oral and Maxillofacial Surgery | Comments Off on Multiple central giant cell tumour lesions are exclusively linked to syndromes related to RAS/MAPK pathway anomalies
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