First Polish Cowden syndrome patient with confirmed PTEN gene mutation
Marta Podralska1, Dorota Nowakowska, Jan Steffen
1Institute of Human Genetics, Polish Academy of Sciences, Poznań, Poland.
Insights
Cowden syndrome, a rare genetic disorder caused by PTEN gene mutations, increases cancer risk. This case study details a Polish patient with Cowden syndrome and a specific PTEN gene mutation.
Area of Science:
- Genetics
- Oncology
- Medical Case Reports
Background:
- Cowden syndrome is a rare autosomal dominant inherited disorder.
- It is characterized by a high risk of developing various benign and malignant tumors.
- Mutations in the phosphatase and tensin homolog (PTEN) gene are the primary cause.
Observation:
- This report presents a case of Cowden syndrome in a Polish patient.
- The patient was diagnosed with a specific mutation in the PTEN gene.
- The clinical presentation and disease course were documented.
Findings:
- The identified PTEN gene mutation was substitution 68T>A.
- The patient exhibited characteristic features of Cowden syndrome.
- Comparison with other reported cases carrying the same mutation was performed.
Implications:
- This case highlights the importance of genetic testing for PTEN mutations in suspected Cowden syndrome.
- Understanding genotype-phenotype correlations can improve patient management.
- Further research into PTEN mutations can lead to targeted therapies for associated cancers.
Abstract:
Cowden syndrome is a rare hereditary disease. Incidence of the disease is conditioned by occurrence of mutations in the PTEN gene. The disease has a frequency of 1/120,000 newborn and it predisposes to the occurrence of hamartoma polyps in the gastrointestinal tract, skin tumours, as well as tumours of the breast, ovary and thyroid. Here we describe the case of a Polish patient diagnosed with Cowden syndrome with an identified mutation in the PTEN gene. The disease course of the patient is described and discussed along with other cases of carriers of substitution 68T>A in the PTEN gene.
