Management and outcomes of fertility preservation in rare Cowden syndrome-associated endometrial carcinoma: a case series
Abstract
Background: Cowden syndrome-associated endometrial carcinoma (CS-EC) is rare, and data on fertility-preserving treatment for young patients remain limited. This series describes the diagnosis and management of three patients with CS-EC who underwent fertility-sparing treatment. We also report the subsequent pregnancy outcome for one of these individuals. These cases provide a clinical reference for the individualized management of such patients.
Case presentation: Three patients (aged 29, 31, and 28 years) with germline Phosphatase and tensin homolog (PTEN) pathogenic variants and stage IA endometrial carcinoma underwent individualized fertility-sparing treatment. Case 1 (PTEN p.R189Qfs*9) failed levonorgestrel-releasing intrauterine system (LNG-IUS) treatment at 19 months. Eight cycles of GnRH agonist (GnRH-a) plus letrozole (LE) subsequently induced a complete response. A recurrence was successfully managed with twelve additional cycles of this regimen. Case 2 (PTEN p.R173C) attained remission after six months of megestrol acetate (MA). Case 3 (PTEN p.R335*) responded to MA over nine months, then developed complex mucinous papillary metaplasia during LNG-IUS maintenance, which resolved with ethinylestradiol/cyproterone acetate (EE/CPA). She subsequently conceived and delivered a live birth through Intracytoplasmic sperm injection (ICSI). During the follow-up period, all patients were administered maintenance therapy using a LNG-IUD.
Conclusions: Fertility-sparing therapy…
How strong is the evidence?
Evidence Hub reads this as a case series, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Metformin as an adjuvant in breast cancer treatment
- Metformin Lysosomal Targeting: A Novel Aspect to Be Investigated for Metformin Repurposing in Neurodegenerative Diseases?
- Aberrant HSF1 signaling activation underlies metformin amelioration of myocardial infarction in mice
- Metformin induces ZFP36 by mTORC1 inhibition in cervical cancer-derived cell lines
- Protein Interaction Network for Identifying Vascular Response of Metformin (Oral Antidiabetic)
- Preventing Long COVID With Metformin
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.