Morisaki Tamami, Kashiwagi Shinichiro, Kouhashi Rika, Yabumoto Akimichi, Asano Yuka, Takashima Tsutomu, Hirakawa Kosei, Ohira Masaichi
Department of Breast and Endocrine Surgery, Osaka City University Graduate School of Medicine, Osaka, Japan.
Department of Gastrointestinal Surgery, Osaka City University Graduate School of Medicine, Osaka, Japan.
Case Rep Oncol. 2020 Apr 17;13(1):419-423. doi: 10.1159/000506979. eCollection 2020 Jan-Apr.
Cowden syndrome is extremely rare and is characterized by multiple hamartomas in various tissues, including the skin, mucous membranes, gastrointestinal tract, breast, thyroid, and brain, and has an increased risk of breast, thyroid, and uterine cancers. Here, we report a case of Cowden syndrome diagnosed following presentation with bilateral breast cancer and provide a discussion of the relevant literature. A 47-year-old woman with a tumor in her right breast was referred to our hospital. She was diagnosed with bilateral breast cancer upon imaging and underwent a bilateral mastectomy and sentinel lymph node biopsy. Previously, she had undergone total thyroidectomy to treat a thyroid tumor. Approximately 3 years later, she was diagnosed with Lhermitte-Duclos disease affecting her left cerebellar hemisphere. As her sister and mother had also been diagnosed with breast cancer, we suspected that she might have an inherited disease. Since 80% of individuals with Cowden syndrome have a mutation in the phosphatase and tension homolog (PTEN) gene, we did not perform any genetic testing. Instead, we used the syndrome's pathognomonic criteria and major criteria (breast cancer, thyroid tumor, and Lhermitte-Duclos disease) to diagnose our patient with Cowden syndrome. While treatment of Cowden syndrome is currently limited to strategies that can manage the symptoms, patients are at an increased risk of certain cancers and require regular screening to allow for early detection of disease.
考登综合征极为罕见，其特征是在包括皮肤、黏膜、胃肠道、乳腺、甲状腺和脑在内的各种组织中出现多发性错构瘤，并且患乳腺癌、甲状腺癌和子宫癌的风险增加。在此，我们报告一例在出现双侧乳腺癌后被诊断为考登综合征的病例，并对相关文献进行讨论。一名47岁右乳有肿瘤的女性被转诊至我院。经影像学检查，她被诊断为双侧乳腺癌，并接受了双侧乳房切除术和前哨淋巴结活检。此前，她曾接受甲状腺全切除术以治疗甲状腺肿瘤。大约3年后，她被诊断患有累及左小脑半球的Lhermitte-Duclos病。由于她的姐姐和母亲也被诊断患有乳腺癌，我们怀疑她可能患有遗传性疾病。由于80%的考登综合征患者磷酸酶及张力蛋白同源物（PTEN）基因存在突变，我们未进行任何基因检测。相反，我们使用该综合征的诊断标准和主要标准（乳腺癌、甲状腺肿瘤和Lhermitte-Duclos病）将我们的患者诊断为考登综合征。虽然目前考登综合征的治疗仅限于能够控制症状的策略，但患者患某些癌症的风险增加，需要定期筛查以便早期发现疾病。
