Department of Radiation Oncology, Centre hospitalier de l'Université de Montréal, Montreal, QC, Canada.
Fam Cancer. 2011 Dec;10(4):691-4. doi: 10.1007/s10689-011-9472-8.
Cowden syndrome (CS) is a cancer predisposition syndrome caused by germline mutations in the PTEN tumor suppressor gene. It is associated with an increased risk of thyroid, breast and endometrial cancer but many manifestations can be found in the head and neck region, some of which are pathognomonic. Here we report a 35-year-old male referred by his dentist for evaluation of a lesion located near the retromolar trigone. Comprehensive clinical examination revealed papillomatous skin lesions, macrocephaly and gingival hypertrophy. Histopathological examination of the lesion showed an acinic cell carcinoma (ACC) of minor salivary gland origin. Analysis of the PTEN gene identified a germline R130Q mutation in exon 5, confirming the diagnosis of CS, but no loss of heterozygosity was seen in DNA extracted from tumor tissue. This is to our knowledge the first case describing an association of ACC of the minor salivary gland with a PTEN-gene related disorder. It emphasizes the importance of head and neck examination in these patients.
考登综合征（CS）是一种由 PTEN 肿瘤抑制基因种系突变引起的癌症易感性综合征。它与甲状腺癌、乳腺癌和子宫内膜癌的风险增加有关，但许多表现可在头颈部找到，其中一些具有特征性。在这里，我们报告了一名 35 岁男性，因位于磨牙后三角附近的病变而被牙医转介进行评估。全面的临床检查显示乳头状皮肤病变、大头畸形和牙龈肥大。病变的组织病理学检查显示来源于小唾液腺的腺样囊性癌（ACC）。PTEN 基因突变分析发现外显子 5 中的种系 R130Q 突变，证实了 CS 的诊断，但从肿瘤组织中提取的 DNA 未见杂合性丢失。据我们所知，这是首例描述小唾液腺的 ACC 与与 PTEN 基因相关疾病相关的病例。它强调了对头颈部这些患者进行检查的重要性。
