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Abstract：
Cherubism is a rare autosomal dominant condition affecting the jaws and caused by mutations in the gene encoding for the adapter protein SH3BP2 that maps to chromosome 4p16.3. Cherubism is characterized by symmetrically developing bone lesions in the maxilla and mandible. The lesions have been radiographically and histopathologically well-described. Here, we present a family with cherubism with two of its members featuring odontogenic tumorous proliferations in association with persistent central giant cell lesions (CGCL). Specifically, the proband, a 25-year-old male, developed a radiolucent lesion characterized histologically by central odontogenic fibroma-like proliferation in association with a CGCL component, while his mother, at age 57, was diagnosed with primary intraosseous odontogenic carcinoma with areas of benign fibro-osseous lesions. In both patients the lesions occurred in the anterior mandible and presented with clinical enlargement. The son underwent incisional biopsy and did not have additional treatment. His mother underwent extensive mandibulectomy due to widespread tumor. The son has two affected children with classic cherubism while a third child at age 5, had not shown any features of the disease. Mutation analysis of three affected members resulted in the identification of a heterozygous mutation in SH3BP2 (c.1244G>C; p.Arg415Pro). To the best of our knowledge, association of cherubism with odontogenic neoplastic lesions has hitherto not been reported in the literature, thus suggesting a relationship between cherubism with disturbed odontogenesis.
摘要：
Cherubism是一种罕见的常染色体显性疾病，影响颌骨，并由编码定位到染色体4p16.3的衔接蛋白SH3BP2的基因突变引起。Cherubism的特征是上颌骨和下颌骨中对称发展的骨病变。病变已在影像学和组织病理学上得到充分描述。这里,我们介绍了一个患有胆碱病的家庭，其两个成员具有牙源性肿瘤增殖，并伴有持续性中央巨细胞病变（CGCL）。具体来说,先证者，一个25岁的男性,出现了一种放射状的病变，其组织学特征是与CGCL成分相关的中央牙源性纤维瘤样增殖，而他的母亲,在57岁时，被诊断为原发性骨内牙源性癌，伴有良性纤维骨性病变。在两名患者中，病变均发生在下颌骨前部，并伴有临床肿大。儿子接受了切开活检，没有接受其他治疗。由于广泛的肿瘤，他的母亲接受了广泛的下颌骨切除术。儿子有两个患有经典天使症的受影响儿童，而第三个5岁的孩子则没有表现出这种疾病的任何特征。三个受影响成员的突变分析导致SH3BP2中杂合突变的鉴定(c.1244G>C;p.Arg415Pro)。据我们所知,到目前为止，在文献中还没有报道过与牙源性肿瘤病变的联系，因此表明了小天使症与牙齿发育紊乱之间的关系。
