背景:Gardner综合征是一种罕见的以肠道息肉病为特征的遗传性癌症易感性疾病,多发性骨瘤,和软组织和硬组织肿瘤。大约30%-70%的加德纳综合征患者存在牙齿异常,可以在常规牙科检查中发现。然而,有时,由于高临床变异性和不完整的临床表现,诊断具有挑战性。在这里,我们报告了一个有各种牙齿和骨骼异常的家庭,在基于最先进的下一代测序技术的全面遗传分析的帮助下,确定的诊断。病例介绍:一名17岁的女性索引患者出现牙齿(龋齿,受影响,保留和定位在前面的牙齿)和不典型的骨骼异常,与Gardner综合征不相似。由于全景X射线鉴定出的非典型骨骼异常,她在11岁时首次被转诊到我们的遗传咨询部门。手术切除牙齿3.6,组织病理学报告显示Paget病样骨代谢紊乱,下颌骨的成骨细胞和破骨细胞活动混合。体格检查发现腰椎皮下小肿瘤。肿瘤的超声检查提高了软骨瘤病软组织传播的可能性。她的妹妹,14岁时年轻2岁,患有一些良性肿瘤(多发性外生骨,牙列切除术,表皮样囊肿)和阻生牙齿。他们的母亲也有骨骼症状。她的下牙没有发育,第9-10号肋骨融合,她抱怨间歇性的下颚疼痛.头颅CT扫描显示颅骨上的纤维发育不良。全外显子组测序在索引患者的DNA中的APC基因中鉴定出杂合致病性无义突变(c.4700C>G;p.Ser1567*)。靶向测序揭示了其他受影响的家庭成员(姐妹和母亲)的DNA中的相同变体。结论:早期诊断,基因决定的综合症非常重要,因为肠息肉有潜在的高度恶性转化。牙医应该熟悉这种疾病的典型颌面部特征,能够将患者转介给遗传咨询。牙齿异常通常先于肠息肉病,便于早期诊断。从而增加患者的生存机会。对于具有非典型表型体征的患者,可能需要进行遗传分析。
Background: Gardner syndrome is a rare genetic cancer predisposition disorder characterized by intestinal polyposis, multiple osteomas, and soft and hard tissue tumors. Dental anomalies are present in approximately 30%-70% of patients with Gardner syndrome and can be discovered during routine dental examinations. However, sometimes the diagnosis is challenging due to the high clinical variability and incomplete clinical picture. Herein, we report a family with various dental and bone anomalies, in which the definitive diagnosis was established with the help of a comprehensive genetic analysis based on state-of-the-art next-generation sequencing technology. Case presentation: A 17-year-old female index patient presented with dental (caries, impacted, retained and anteriorly located teeth) and atypical bone anomalies not resembling Gardner syndrome. She was first referred to our Genetic Counselling Unit at the age of 11 due to an atypical bone abnormality identified by a panoramic X-ray. Tooth 3.6 was surgically removed and the histopathology report revealed a Paget\'s disease-like bone metabolic disorder with mixed osteoblastic and osteoclastic activity of the mandible. A small lumbar subcutaneous tumor was discovered by physical examination. Ultrasound examination of the tumor raised the possibility of a soft tissue propagation of chondromatosis. Her sister, 2 years younger at the age of 14, had some benign tumors (multiple exostoses, odontomas, epidermoid cysts) and impacted teeth. Their mother had also skeletal symptoms. Her lower teeth did not develop, the 9th-10th ribs were fused, and she complained of intermittent jaw pain. A cranial CT scan showed fibrous dysplasia on the cranial bones. Whole exome sequencing identified a heterozygous pathogenic nonsense mutation (c.4700C>G; p.Ser1567*) in the APC gene in the index patient\'s DNA. Targeted sequencing revealed the same variant in the DNA of the other affected family members (the sister and the mother). Conclusion: Early diagnosis of this rare, genetically determined syndrome is very important, because of the potentially high malignant transformation of intestinal polyps. Dentists should be familiar with the typical maxillofacial features of this disorder, to be able to refer patients to genetic counseling. Dental anomalies often precede the intestinal polyposis and facilitate the early diagnosis, thereby increasing the patients\' chances of survival. Genetic analysis may be necessary in patients with atypical phenotypic signs.