Endometrial cancer in an adolescent: a possible manifestation of Cowden syndrome.
BACKGROUND
Cowden syndrome is an autosomal dominant disorder characterized by the development of multiple intestinal hamartomas, distinctive mucocutaneous lesions, and an increased risk of endometrial, breast, and thyroid cancer.


METHODS
An adolescent girl whose mother had a known germline PTEN mutation presented with abnormal vaginal bleeding and was diagnosed with a grade 2 endometrial adenocarcinoma. She underwent a robotic hysterectomy and was found to have no myometrial invasion or distant disease. Genetic testing revealed the patient to have the familial germline PTEN mutation.


CONCLUSIONS
The strikingly young age of onset of this patient's endometrial cancer highlights the need for additional study to better understand Cowden syndrome and to determine what endometrial cancer screening and preventive strategies are needed.
Schmeler
Kathleen M
KM
From the Departments of Gynecologic Oncology and Clinical Cancer Genetics, the University of Texas M.D. Anderson Cancer Center, Houston, Texas.
Daniels
Molly S
MS
Brandt
Amanda C
AC
Lu
Karen H
KH
D000230:Adenocarcinoma / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D000293:Adolescent; D016889:Endometrial Neoplasms / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D005260:Female; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D051059:PTEN Phosphohydrolase / Q000235:genetics*
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human