2023 Volume 23 Issue 3 Pages 98-103
Cowden syndrome/PTEN hamartoma tumor syndrome (CS/PHTS) is a rare disease that causes early-onset malignancies due to germline pathogenic variants in the PTEN. A 24-year-old woman with right bloody nipple discharge was diagnosed with right breast cancer. She was also diagnosed with multiple fibroadenoma, left ovarian maturation teratoma and endometrial hyperplasia. BRCA1/2 genetics testing was negative. The pathogenic variant of PTEN (p.Gly132Asp) was identified by multi gene panel testing (MGPT) after surgery for right breast cancer. Her facial rash and state of psychological development were suggested to be related to CS/PHTS. The endometrial biopsies under short intervals were performed for endometrial hyperplasia. An endometrial biopsy performed 11 months after breast cancer surgery showed atypical proliferation, total hysterectomy and bilateral oophorectomy were performed, and she is alive and recurrence-free. MGPT is helpful for patients with potential and de novo CS/PHTS.
