The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).
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Hendricks Linda A J, Verbeek Katja C J, Schuurs-Hoeijmakers Janneke H M, de Jong Mirjam M, Links Thera P, Brems Hilde, Aerden Mio, Brunet Joan, Lleuger-Pujol Roser, Hüneburg Robert, Aretz Stefan, Colas Chrystelle, Villy Marie-Charlotte, Woodward Emma R, Evans D Gareth, Bosch Daniëlle G M, Donze Stephany H, Foretová Lenka, Blatnik Ana, Leter Edward M, Tischkowitz Marc, Jahn Arne, de Putter Robin, Dupont Juliette, Briskemyr Siri, Steinke-Lange Verena, Baldassarri Margherita, Anastasiadou Violetta C, Irmejs Arvīds, Oliveira Carla, van der Post Rachel S, Mensenkamp Arjen R, Tesi Bianca, Mu Ninni, Benusiglio Patrick R, Gerasimenko Anna, Innella Giovanni, Turchetti Daniela, Houdayer Claude, Branchaud Maud, Høberg Vetti Hildegunn, Tveit Haavind Marianne, Balmaña Judith, Torres Maite, Genuardi Maurizio, Panfili Arianna, Jørgensen Kjersti, Mæhle Lovise, Hoogerbrugge Nicoline, Vos Janet R
Аннотация
METHODS: This European cohort study assessed second primary cancer risks with Kaplan-Meier analyses using data from medical files, registries and/or patient questionnaires.
RESULTS: Overall, 279 adult PHTS patients with (a history of) cancer were included (80% female). Among females, 106 (54%) developed a PHTS-related second primary cancer after a PHTS-related first primary cancer, whereas 10 (29%) males developed a PHTS-related second primary cancer after a PHTS-related first primary cancer. The 5- and 10-year PHTS-related second primary cancer risks were 24.5% (95% CI = 18.1-32.5) and 45.7% (95% CI = 36.9-55.4) in females and 14.5% (95% CI = 5.7-34.1) and 19.8% (95% CI = 8.6-41.9) in males, respectively. Furthermore, 5- and 10-year risks for a second primary breast cancer after a first primary breast cancer were 23.3% (95% CI = 14.9-35.2) and 45.6% (95% CI = 33.0-60.2) in females, respectively.
CONCLUSION: This study demonstrated that PHTS patients 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 a second primary cancer through surveillance or risk-reducing surgery.