Journal Article

DKFZ-2025-01107

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).

Hendricks, L. A. J. ; Verbeek, K. C. J. ; Schuurs-Hoeijmakers, J. H. M. ; de Jong, M. M. ; Links, T. P. ; Brems, H. ; Aerden, M. ; Brunet, J. ; Lleuger-Pujol, R. ; Hüneburg, R. ; Aretz, S. ; Colas, C. ; Villy, M.-C. ; Woodward, E. R. ; Evans, D. G. ; Bosch, D. G. M. ; Donze, S. H. ; Foretová, L. ; Blatnik, A. ; Leter, E. M. ; Tischkowitz, M. ; Jahn, A.DKFZ* ; de Putter, R. ; Dupont, J. ; Briskemyr, S. ; Steinke-Lange, V. ; Baldassarri, M. ; Anastasiadou, V. C. ; Irmejs, A. ; Oliveira, C. ; van der Post, R. S. ; Mensenkamp, A. R. ; Tesi, B. ; Mu, N. ; Benusiglio, P. R. ; Gerasimenko, A. ; Innella, G. ; Turchetti, D. ; Houdayer, C. ; Branchaud, M. ; Høberg-Vetti, H. ; Haavind, M. T. ; Balmaña, J. ; Torres, M. ; Genuardi, M. ; Panfili, A. ; Jørgensen, K. ; Mæhle, L. ; Hoogerbrugge, N. ; Vos, J. R.

2025
Elsevier Amsterdam

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Please use a persistent id in citations: doi:10.1016/j.gim.2025.101467

Abstract: Patients with PTEN Hamartoma Tumor Syndrome (PHTS) have high hereditary cancer risks for breast, endometrial, and thyroid cancer. Patients develop multiple primary cancers, but these risks remain uncertain. We aimed to provide the second primary cancer risk.This European cohort study assessed second primary cancer risks with Kaplan-Meier analyses using data from medical files and/or registries.Overall, 279 adult patients with PHTS with cancer were included (80% female). Among females, 112 (54%) developed a PHTS-related second primary cancer after PHTS-related first primary cancer, whereas 11 (30%) males developed a PHTS-related second primary cancer after PHTS-related first primary cancer. Five- and ten-year PHTS-related second primary cancer risks were 23% (95%CI=16-31) and 46% (95%CI=37-56) for females, and 18% (95%CI=8-38) and 23% (95%CI=11-45) for males, respectively. Furthermore, five- and ten-year risks for second primary breast cancer after first primary breast cancer were 23% (95%CI=15-35) and 46% (95%CI=33-60), respectively.This study demonstrated that patients with PHTS have high second primary cancer risks, which is driven by breast cancer in females. Hence, identifying patients with PHTS before or at first primary cancer diagnosis is essential to enable potential early detection or prevention of second primary cancer through surveillance or risk-reducing surgery.

Keyword(s): PTEN ; PTEN Hamartoma Tumor Syndrome ; hereditary cancer ; second primary cancer risk

Note: Volume 27, Issue 10, October 2025, 101467

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Contributing Institute(s):

1. DKTK Koordinierungsstelle Dresden (DD01)

Research Program(s):

1. 899 - ohne Topic (POF4-899) (POF4-899)

Appears in the scientific report 2025

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Database coverage:
; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; DEAL Springer ; Essential Science Indicators ; IF >= 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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