TY - JOUR
T1 - The clinicopathological features of breast cancer in Peutz-Jeghers syndrome
T2 - results from an international survey
AU - Loehrer, Elizabeth
AU - Wagner, Anja
AU - Bahar, Massiah
AU - Ramzan, F. Rubab
AU - Jelsig, Anne Marie
AU - Goverde, Anne
AU - van Leerdam, Monique
AU - Korsse, Susanne E.
AU - Dekker, Evelien
AU - Spaander, Manon C.W.
AU - Karstensen, John Gásdal
AU - Zuber, Veronica
AU - Macrae, Finlay
AU - Latchford, Andrew
N1 - Publisher Copyright:
© The Author(s) 2025.
PY - 2025/5/3
Y1 - 2025/5/3
N2 - Background: Female patients with Peutz-Jeghers syndrome (PJS) have an increased risk of breast cancer (BrCa), and surveillance is recommended. However, clinicopathological features of their tumors and prognosis are lacking. To facilitate more precise future guideline development, we evaluated these data. Methods: We conducted an international survey for InSiGHT members to collect retrospective data on PJS patients with diagnosed breast cancer. Results: We received 23 responses, including three centers with data on BrCa patients. All reported BrCa patients were female. In total, the cohort comprised 27 patients with 34 BrCa (five bilateral synchronous, one bilateral metachronous, and one metachronous unilateral tumours). The median age at first cancer diagnosis was 45 years (range 26–67). Most cancers were ductal carcinoma, either invasive (13) or in situ (DCIS; 19). TNM staging for invasive cancer was available in thirteen cases, of which nine were T1N0M0. Among tumors with histological reports, 14/15 were oestrogen receptor positive, 8/15 were progesterone receptor positive, and 4/15 were HER2 positive. There were no triple negative breast cancers. Twenty-five patients had follow-up data, comprising 229 patient years. Eleven patients had died of any cause during follow-up. Survival at 5 years was 73%. Conclusion: Overall, breast cancers that occur in this PJS population seem to have favorable characteristics and prognosis. These data will help inform discussions about risk management in patients with PJS. Further research is needed to better understand lifetime risk, the optimal surveillance modality and its outcomes.
AB - Background: Female patients with Peutz-Jeghers syndrome (PJS) have an increased risk of breast cancer (BrCa), and surveillance is recommended. However, clinicopathological features of their tumors and prognosis are lacking. To facilitate more precise future guideline development, we evaluated these data. Methods: We conducted an international survey for InSiGHT members to collect retrospective data on PJS patients with diagnosed breast cancer. Results: We received 23 responses, including three centers with data on BrCa patients. All reported BrCa patients were female. In total, the cohort comprised 27 patients with 34 BrCa (five bilateral synchronous, one bilateral metachronous, and one metachronous unilateral tumours). The median age at first cancer diagnosis was 45 years (range 26–67). Most cancers were ductal carcinoma, either invasive (13) or in situ (DCIS; 19). TNM staging for invasive cancer was available in thirteen cases, of which nine were T1N0M0. Among tumors with histological reports, 14/15 were oestrogen receptor positive, 8/15 were progesterone receptor positive, and 4/15 were HER2 positive. There were no triple negative breast cancers. Twenty-five patients had follow-up data, comprising 229 patient years. Eleven patients had died of any cause during follow-up. Survival at 5 years was 73%. Conclusion: Overall, breast cancers that occur in this PJS population seem to have favorable characteristics and prognosis. These data will help inform discussions about risk management in patients with PJS. Further research is needed to better understand lifetime risk, the optimal surveillance modality and its outcomes.
UR - http://www.scopus.com/inward/record.url?scp=105004268871&partnerID=8YFLogxK
U2 - 10.1007/s10689-025-00469-5
DO - 10.1007/s10689-025-00469-5
M3 - Article
C2 - 40317347
AN - SCOPUS:105004268871
SN - 1389-9600
VL - 24
JO - Familial Cancer
JF - Familial Cancer
IS - 2
M1 - 41
ER -
