Background Germline mutations in the STK11/LKB1 gene cause Peutz-Jeghers syndrome, an autosomal-dominantly-inherited condition characterized by mucocutaneous pigmentation, hamartomatous gastrointestinal polyposis, and an increased risk for various malignancies. We here report the results of the first Italian collaborative study on Peutz-Jeghers syndrome. Aims To assess cancer risks in a large homogenous cohort of patients with Peutz-Jeghers syndrome, carrying, in large majority, an identified STK11/LKB1 mutation. Methods One-hundred and nineteen patients with Peutz-Jeghers syndrome, ascertained in sixteen different Italian centers, were enrolled in a retrospective cohort study. Relative and cumulative cancer risks and genotype-phenotype correlations were evaluated. Results 36 malignant tumors were found in 31/119 (29 STK11/LKB1 mutation carriers) patients, The mean age at first cancer diagnosis was 41 years. The relative overall cancer risk was 15.1 with a significantly higher risk (p<0.001) in females (22.0) than in males (8.6). Highly increased relative risks were present for gastrointestinal (126.2) and gynecological cancers (27.7), in particular for pancreatic (139.7) and cervical cancer (55.6). The Kaplan-Meier estimates for overall cumulative cancer risks were 20%, 43%, 71%, and 89%, at age 40, 50, 60 and 65 years, respectively. Conclusion Peutz-Jeghers syndrome entails markedly elevated cancer risks, mainly for pancreatic and cervical cancers. This study provides a helpful reference for improving current surveillance protocols.
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|Titolo:||Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study|
|Data di pubblicazione:||2013|
|Citazione:||Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: Results of an Italian multicenter study / Resta, Nicoletta; Pierannunzio, D; Lenato, Gm; Stella, Alessandro; Capocaccia, R; Bagnulo, R; Lastella, P; Susca, Francesco Claudio; Bozzao, C; Loconte, Dc; Sabba', Carlo; Urso, E; Sala, P; Fornasarig, M; Grammatico, P; Piepoli, A; Host, C; Turchetti, D; Viel, A; Memo, L; Giunti, L; Stigliano, V; Varesco, L; Bertario, L; Genuardi, M; Lucci Cordisco, E; Tibiletti, Mg; Di Gregorio, C; Andriulli, A; Ponz de Leon, M; Aifeg,. - In: DIGESTIVE AND LIVER DISEASE. - ISSN 1590-8658. - 45:7(2013), pp. 606-611.|
|Appare nelle tipologie:||1.1 Articolo in rivista|