Faculty of Medicine, University of Porto, Porto, Portugal.
University Hospital Center of S. João, Porto, Portugal.
World J Surg Oncol. 2020 Aug 17;18(1):211. doi: 10.1186/s12957-020-01971-z.
Cowden's syndrome is an autosomal dominant disease with variable penetrance, involving the tumor suppressor phosphatase and tension homolog gene, located on chromosome 10q22-23, responsible for cell proliferation, migration, and cellular apoptosis. Its clinical presentation encompasses mucocutaneous lesions, which are present around 99% of the time; macrocephaly; and cognitive impairment, and it precedes the appearance of neoplasms such as thyroid carcinoma, breast cancer, among others. In addition to these malformations, arteriovenous malformations of the brain and spine, endocrine abnormalities, skeletal defects, and cardiopulmonary lesions may also be found. The relevance of the case is due to the fact that, through a certain phenotype, the patient's genotype can be inferred and thus followed up closely.
The clinical case concerns a 28-year-old Caucasian and Portuguese woman with palmar pits, macrocephaly, and cognitive impairment. She was diagnosed with papillary thyroid carcinoma at 22 years of age and proposed total thyroidectomy. At age 27, a pregnancy was diagnosed with a Breast Imaging-Reporting and Data System 2-rated breast lump. After the histological verification, it was concluded that it was a high metastatic breast sarcoma, opting for palliative mastectomy. A genetic evaluation confirmed alteration in the phosphatase and tension homolog gene, confirming Cowden's syndrome. The patient died at age 29 due to neoplastic pathology.
This report aims to alert to the clinical signs of this entity and the clinical supervision and follow-up of these patients. In order to prevent premature deaths and to improve patient's quality of life, genetic diseases with cancer impact should be diagnosed as early as possible.
考登综合征是一种常染色体显性遗传病，具有可变的外显率，涉及位于 10q22-23 染色体上的肿瘤抑制磷酸酶和张力同源基因，负责细胞增殖、迁移和细胞凋亡。其临床表现包括黏膜皮肤病变，约 99%的患者存在；大头畸形；认知障碍，并且在甲状腺癌、乳腺癌等肿瘤出现之前就存在。除了这些畸形外，还可能发现脑和脊柱动静脉畸形、内分泌异常、骨骼缺陷和心肺病变。该病例的相关性在于，通过某种表型，可以推断出患者的基因型，从而进行密切随访。
该临床病例涉及一名 28 岁的白种人和葡萄牙女性，表现为手掌凹坑、大头畸形和认知障碍。她在 22 岁时被诊断出患有甲状腺乳头状癌，并建议进行全甲状腺切除术。27 岁时，诊断出妊娠合并乳腺成像报告和数据系统 2 级乳腺肿块。经过组织学验证，结论为高转移性乳腺肉瘤，选择姑息性乳房切除术。基因评估证实存在磷酸酶和张力同源基因突变，确诊考登综合征。该患者因肿瘤病变于 29 岁时死亡。
本报告旨在提醒人们注意该实体的临床体征，以及对这些患者的临床监护和随访。为了预防过早死亡和提高患者的生活质量，应尽早诊断出具有癌症影响的遗传性疾病。
