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PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers.
Hye Sung Won1, Eun Deok Chang2, Sae Jung Na3
1Department of Internal Medicine, Uijeongbu St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Uijeongbu, Korea.
Cancer Research and Treatment
|March 8, 2018
Summary
PTEN hamartoma tumor syndrome, linked to PTEN gene mutations, presents with diverse symptoms and increased cancer risk. Early recognition of its features is vital for timely diagnosis and preventive care.
Area of Science:
- Genetics
- Oncology
- Dermatology
Background:
- PTEN hamartoma tumor syndrome (PHTS) encompasses disorders like Cowden syndrome, caused by PTEN gene mutations.
- PHTS is associated with an elevated risk of various cancers, including breast, thyroid, endometrial, and renal types.
Observation:
- A young woman presented with simultaneous breast cancer, dermatofibrosarcoma protuberans, and a follicular neoplasm.
- Genetic analysis revealed a germline mutation in the PTEN gene (c.723dupT, exon 7).
Findings:
- The identified PTEN mutation in this patient correlates with the PHTS diagnosis.
- The simultaneous occurrence of multiple neoplasms highlights the aggressive potential within PHTS.
Implications:
- Accurate diagnosis of PHTS through recognition of phenotypic features is crucial for patient management.
- Proactive cancer surveillance and preventive strategies are essential for individuals with PHTS.
- This case underscores the importance of genetic testing in patients with complex neoplastic presentations.
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