Division of Oral Microbiology and Immunology, Department of Operative and Preventive Dentistry & Periodontology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Int J Oral Maxillofac Surg. 2011 Aug;40(8):851-5. doi: 10.1016/j.ijom.2011.04.003. Epub 2011 Jun 16.
Central giant cell granuloma (CGCG) is a benign lesion with unpredictable biological behaviour ranging from a slow-growing asymptomatic swelling to an aggressive lesion associated with pain, bone and root resorption and also tooth displacement. The aetiology of the disease is unclear with controversies in the literature on whether it is mainly of reactional, inflammatory, infectious, neoplasic or genetic origin. To test the hypothesis that mutations in the SH3BP2 gene, as the principal cause of cherubism, are also responsible for, or at least associated with, giant cell lesions, 30 patients with CGCG were recruited for this study and subjected to analysis of germ line and/or somatic alterations. In the blood samples of nine patients, one codon alteration in exon 4 was found, but this alteration did not lead to changes at the amino acid level. In conclusion, if a primary genetic defect is the cause for CGCG it is either located in SH3BP2 gene exons not yet related to cherubism or in a different gene.
中央性 giant cell 肉芽肿（CGCG）是一种良性病变，其生物学行为不可预测，从缓慢生长的无症状肿胀到与疼痛、骨和根吸收以及牙齿移位相关的侵袭性病变。该疾病的病因尚不清楚，文献中有争议，认为其主要是反应性、炎症性、感染性、肿瘤性还是遗传性的。为了验证 SH3BP2 基因突变是导致 cherubism 的主要原因，并且也与 giant cell 病变有关或至少相关的假设，本研究招募了 30 名 CGCG 患者，并对其进行了种系和/或体细胞改变的分析。在 9 名患者的血液样本中发现了 1 个外显子 4 的密码子改变，但该改变并未导致氨基酸水平的变化。总之，如果原发性遗传缺陷是 CGCG 的原因，那么它要么位于与 cherubism 无关的 SH3BP2 基因外显子中，要么位于另一个基因中。
