Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
Oral and Maxillofacial PathologyVariable expressivity and novel PTEN mutations in Cowden syndrome
Section snippets
Materials and Methods
Written informed consent was obtained in compliance with the tenets of the Declaration of Helsinki—Ethical Principles for Medical Research Involving Human Subjects.
Isolated case
A 34-year-old female was referred with a chief complaint of a 1-year history of oral lesions. During anamnesis, the patient reported fibrocystic breast disease and an intracystic papilloma in the right breast, multiple benign thyroid nodules, gallbladder calculi, pulmonary centrolobular nodules with formation of air cysts, and previously removed epidermoid cysts on her back. Physical examination revealed multiple facial skin papules compatible with trichilemmomas, conjunctival papules, acral
Discussion
CS is characterized by phenotypic variability, so affected individuals often undergo numerous medical evaluations before a conclusive diagnosis can be made. Although several minimal clinical criteria for definitive diagnosis of CS were proposed,2 PTEN genetic testing is still required in individuals with typical clinical features. In the current isolated case, the patient demonstrated typical mucocutaneous lesions, including trichilemmomas, palm keratoses, multiple cutaneous facial papules, and
Conclusions
This study found novel mutations in patients with CS, confirming the variable clinical expressivity of signals. Although both mutations have been described in cancer tissues,13, 14 germline PTEN mutations are rare, and additional phenotypic features are almost always identified in CS cases. Patients with CS should, therefore, be educated about the need for cancer surveillance.
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2022, Actas Dermo-SifiliograficasLncRNA PCAT6 promotes occurrence and development of ovarian cancer by inhibiting PTEN
2019, European Review for Medical and Pharmacological Sciences
This work was supported by grants from The State of São Paulo Research Foundation-FAPESP, São Paulo, Brazil (2016/02667-0).