Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients

In patients afflicted with the autosomal dominant hereditary tumor predisposition syndrome neurofibromatosis type 1 (NF1), central giant cell granuloma of the jaw (CGCG) is observed in rare cases. In NF1, the lesion is caused by mutations in the NF1 gene. The report summarizes the diagnosis, treatment and follow-up of 2 NF1 patients and provides a brief evaluation of case reports on NF1-associated CGCG.

Both females with CGCG (age: 14 and 22 years) had either one or more jaw lesions. The lesions were removed with curettage to avoid dental injuries. In both cases, recurrences occurred, which led to re-ossification of the mandible through repeated surgical procedures after several years. The literature review based on 33 sufficiently documented cases shows clear differences between genders concerning the number of affected individuals in NF1. In addition, age at diagnosis of CGCG differed between NF1 patients compared to other RASopathies, namely Noonan syndrome. Cherubism-like lesions with tissue examination have only rarely been described in NF1 patients. In many reported cases surgical treatments were successful. However, in individual cases significantly mutilating interventions have been carried out, which raises questions about alternative treatment options. The proportion of purely diagnostic procedures without information about the further course is significant and limits information about the prognosis.

NF1-associated CGCG have predominantly been treated surgically. In these patients, CGCG can also be expected beyond adolescence. The examination of NF1 patients should include the assessment of potential facial manifestations with appropriately selected imaging. Long-term monitoring of the findings is mandatory.