Um caso raro de Síndrome de Cowden

• Autor(a) principal: Sofia Raquel Guimarães Almeida Miguelote
• Data de Publicação: 2020
• Tipo de documento: Dissertação
• Idioma: por
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://hdl.handle.net/10216/128923
• topic: Ciências médicas e da saúde; Medical and Health sciences

Cowden's syndrome is an autosomal dominant disease with variable penetrance, involving the tumor suppressor Phosphatase and Tension Homolog (PTEN) 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, cognitive impairment and others lesions. These changes precede the appearance of several neoplasms, such as thyroid, breast carcinoma, among others. Additionally, arteriovenous malformations may appear in the brain and spine, endocrine abnormalities, skeletal defects and cardiopulmonary lesions may also be found. The clinical case concerns a 28-year-old Caucasian and Portuguese woman with palmar pits, macrocephaly, cognitive impairment and mucocutaneous lesions. She was diagnosed with papillary thyroid carcinoma at 22 years-of-age and proposed total thyroidectomy. At the age of 27, 38 weeks pregnant, she was diagnosed with a breast lump classified as BIRADS-2. After the histological verification, it was concluded that it was a high metastatic breast sarcoma, opting for palliative mastectomy. After analyzing a group of genes, an alteration in the PTEN gene was found, thus confirming the diagnosis of Cowden ́s Syndrome. The patient died at age 29 due to neoplastic pathology. 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. 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. Genetic diseases with an increased risk of cancer should be diagnosed as early as possible in order to take the necessary precautions to minimize as far as possible the consequences of this entity. The multidisciplinary clinical evaluation allows an accurate and early evaluation of diseases involving several organs, allowing a better monitoring of these patients.