ArticleBMC women's health2026
Management and outcomes of fertility preservation in rare Cowden syndrome-associated endometrial carcinoma: a case series.
Article in BMC women's health, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundCowden 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.
conclusionsFertility-sparing therapy may serve as a potentially feasible option for highly selected patients with stage IA CS-EC, and could lead to relatively favorable pregnancy outcomes. The clinical feasibility of this strategy relies heavily on strict patient selection, timely molecular diagnosis, and standardized continuous multidisciplinary management.
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