Ponti Giovanni, Pollio Annamaria, Mignogna Michele Davide, Pellacani Giovanni, Pastorino Lorenza, Bianchi-Scarrà Giovanna, Di Gregorio Carmela, Magnoni Cristina, Azzoni Paola, Greco Maurizio, Seidenari Stefania
Department of Head and Neck Surgery, Division of Dermatology, University of Modena and Reggio Emilia, Modena, Italy.
Cancer Genet. 2012 Apr;205(4):177-81. doi: 10.1016/j.cancergen.2012.01.012.
Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by a very wide spectrum of clinical signs and symptoms. Here, we report an unusual case of NBCCS in a 38-year-old man with an early onset of clinical signs and symptoms and an associated unicystic ameloblastoma, histopathologically showing basaloid differentiation and intraluminal growth. The odontogenic tumor was surgically enucleated and recurred at the follow-up at 14 months. The proband and his child were identified as gene carriers of the novel K729M PTCH1 missense mutation; other first- and second-degree relatives presented clinical features of NBCCS. Only five other cases of association between ameloblastoma and NBCCS have been reported so far, suggesting that PTCH1 missense mutation might take part in the pathogenesis of keratocystic odontogenic tumors (KCOTs) as well as ameloblastomas.
痣样基底细胞癌综合征（NBCCS）是一种常染色体显性疾病，其临床体征和症状范围非常广泛。在此，我们报告一例38岁男性的罕见NBCCS病例，其临床体征和症状出现较早，且伴有单囊性成釉细胞瘤，组织病理学显示为基底样分化和腔内生长。该牙源性肿瘤经手术摘除，在14个月的随访中复发。先证者及其孩子被鉴定为新型K729M PTCH1错义突变的基因携带者；其他一级和二级亲属表现出NBCCS的临床特征。迄今为止，仅报道了另外5例成釉细胞瘤与NBCCS相关的病例，提示PTCH1错义突变可能参与角化囊性牙源性肿瘤（KCOTs）以及成釉细胞瘤的发病机制。
