Gosein Maria Angela, Narinesingh Dylan, Nixon Cemonne Ann-Alicia Celeste, Goli Sanjeeva Reddy, Maharaj Paramanand, Sinanan Alexander
Radiology Department, Port of Spain General Hospital, Port of Spain, Trinidad & Tobago.
Oncology, St. James Medical Complex, Port of Spain, Trinidad & Tobago.
BMC Res Notes. 2016 Aug 4;9:388. doi: 10.1186/s13104-016-2195-z.
Cowden syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors. In our patient, in addition to breast and endometrial malignancies as well as facial trichilemmomas, she was noted to have multiple meningiomas, pancreatic lipomas and lung cysts. These latter lesions have been noted in previous Cowden syndrome case reports, but are not included in the diagnostic criteria at this time. To our knowledge, this is the first case of multiple meningiomas in this syndrome. Further studies are therefore warranted to assess the significance of these findings in Cowden syndrome.
A middle-aged Afro-Caribbean known endometrial carcinoma patient (post surgery and adjuvant radiotherapy), presented with a locally advanced breast carcinoma. She received neoadjuvant chemotherapy followed by a modified radical mastectomy and axillary lymph node clearance. Her past medical history included a sphenoid wing meningioma for which she received definitive external beam radiotherapy. She was also known to have a multinodular goiter, anal polyp and longstanding mucocutaneous lesions. Further workup revealed additional smaller meningiomas, a parotid arteriovenous malformation, a lung cyst and pancreatic lipomas. Overall, consortium criteria were met for the diagnosis of Cowden syndrome. Furthermore, genetic testing identified a pathogenic mutation in the PTEN gene. She will be closely followed with annual clinical examination, dermatologic assessment and screening colonoscopies. She will perform interval whole body contrast enhanced CT for continued surveillance for metastatic disease.
Cowden syndrome is likely to be an under diagnosed condition, but critically important to identify due to its cancer predisposition. When encountering multi-organ tumors, diagnostic criteria for Cowden syndrome should be sought in order to increase the diagnostic rates. Cancer surveillance for carcinoma detection in the early and curative stages remains the most critical aspect of management.
考登综合征是一种常染色体显性疾病，易患多种良性和恶性肿瘤。在我们的患者中，除了乳腺和子宫内膜恶性肿瘤以及面部毛发上皮瘤外，还发现她患有多发性脑膜瘤、胰腺脂肪瘤和肺囊肿。这些后者的病变在以前的考登综合征病例报告中已有记载，但目前不包括在诊断标准中。据我们所知，这是该综合征中首例多发性脑膜瘤病例。因此，有必要进行进一步研究以评估这些发现在考登综合征中的意义。
一名中年非洲加勒比裔已知患有子宫内膜癌的患者（术后及辅助放疗），出现局部晚期乳腺癌。她接受了新辅助化疗，随后进行了改良根治性乳房切除术和腋窝淋巴结清扫术。她过去的病史包括蝶骨嵴脑膜瘤，为此她接受了根治性外照射放疗。还已知她患有多结节性甲状腺肿、肛门息肉和长期的黏膜皮肤病变。进一步检查发现了更多较小的脑膜瘤、腮腺动静脉畸形、肺囊肿和胰腺脂肪瘤。总体而言，符合考登综合征的联合诊断标准。此外，基因检测发现PTEN基因存在致病突变。她将每年接受密切的临床检查、皮肤科评估和结肠镜筛查。她将定期进行全身增强CT检查以持续监测转移性疾病。
考登综合征可能是一种诊断不足的疾病，但由于其癌症易感性，识别它至关重要。当遇到多器官肿瘤时，应寻求考登综合征的诊断标准以提高诊断率。癌症监测以在早期和治愈阶段检测癌症仍然是管理的最关键方面。
