Revista de informes de casos clínicos

Clear Cell Carcinoma Arising on the Surface of Atypical Polypoid Adenomyoma in a Young Female with Confirmed Diagnosis of Cowden Syndrome

Abstract

Shireen R. Abdullah, Tim Duncan and Chrysoula Liakou

Atypical Polypoid Adenomyoma (APA) is a rare uterine polypoid biphasic tumour that is typically seen in fertile age. Patients present with abnormal uterine bleeding. Although considered as a benign tumour the literature review reveals a risk for recurrence when conservatively treated and an association with endometrial hyperplasia and carcinoma. Hence, the current views suggest the possibility that APA might be a localised form of atypical hyperplasia. Cowden syndrome is an often difficult to recognize hereditary cancer predisposition syndrome caused by mutations in Phosphatase and Tensin Homologue Gene (PTEN) located on chromosome-10. Affected individuals are predisposed to hamartomatous growths as well as malignancy in multiple organ systems including female breast, endometrium, thyroid, colon and kidney. We describe a first case of clear cell carcinoma arising on the surface of atypical polypoid adenomyoma in a 26 years old female. The tumour was confined to the surface of atypical polypoid adenomyoma of the lower uterine segment with no underlying myometrial invasion; lymphovascular permeation or distant metastasis. The patient was also suggested as having Cowden syndrome based on the clinical circumstances “age and the previous history of follicular thyroid adenoma”. Molecular (PTEN gene) analysis performed later-on confirmed the clinical diagnosis of PTEN hamartoma tumour syndrome. This is the second reported case of atypical polypoid adenomyoma within the context of Cowden syndrome highlighting the possible association between the two. The additional pathological finding of clear cell carcinoma in our case would imply that coexisting/associated endometrial adenocarcinoma with APA could be of either endometrioid or non-endometrioid histo-type.