The clinicopathological features of breast cancer in Peutz-Jeghers syndrome: results from an international survey

• DOI: 10.1007/s10689-025-00469-5
• Publication Date: 2025-05-03T10:28:53Z
• Authors: Elizabeth Loehrer; Anja Wagner; Massiah Bahar; F. Rubab Ramzan; Anne Marie Jelsig; Anne Goverde; Monique van Leerdam; Susanne E. Korsse; Evelien Dekker; Manon C. W. Spaander; John Gásdal Karst...; Veronica Zuber; Finlay Macrae; Andrew Latchford
• Keywords: Guideline

Abstract Background: Female patients with Peutz-Jeghers syndrome (PJS) have an increased risk of breast cancer (BrCa), and surveillance is recommended. However, clinicopathological features their tumors prognosis are lacking. To facilitate more precise future guideline development, we evaluated these data. Methods: We conducted international survey for InSiGHT members to collect retrospective data on PJS diagnosed cancer. Results: received 23 responses, including three centers BrCa patients. All reported were female. In total, the cohort comprised 27 34 (five bilateral synchronous, one metachronous, metachronous unilateral tumours). The median age at first diagnosis was 45 years (range 26–67). Most cancers ductal carcinoma, either invasive (13) or in situ (DCIS; 19). TNM staging available thirteen cases, which nine T1N0M0. Among histological reports, 14/15 oestrogen receptor positive, 8/15 progesterone 4/15 HER2 positive. There no triple negative cancers. Twenty-five had follow-up data, comprising 229 patient years. Eleven died any cause during follow-up. Survival 5 73%. Conclusion: Overall, that occur this population seem favorable characteristics prognosis. These will help inform discussions about management PJS. Further research needed better understand lifetime risk, optimal modality its outcomes.