Monday, March 11, 2013

Cancer risk in PJS – report from Italy

Cancer risk in PJS – report from Italy

Things are worse in Italy than elsewhere, especially for women. The risk of cancer in people with PJS is greatly increased over the risk for folks in the general population. Relative risk estimates are the number of times that a diagnosis is more likely to occur in someone with PJS over the general population.

So, yes, the risk of pancreatic cancer is 139.7 times higher in Italian folks with PJS. And for women, the rate is 245.4 times higher. While in men, it’s “only” 88.6 times higher.

Cancer risk increases with age for everyone, but for this group of Italians with PJS the cumulative risk (the risk of cancer by a certain age) is 20% by age 40; 43% by age 50; 71% by age 60 and 89% by age 65.

The authors included 119 PJS patients in the study and noted that 31 were diagnosed with cancers of gastrointestinal tract, female reproductive tract, pancreas, breast, thyroid (in order of frequency). There was one case each of liver cancer, skin cancer, brain cancer and testis cancer. The risk of pancreatic cancer and cervical cancer were especially high relative to the general population.

The authors discuss the possibility of surveillance for PJS patients and note that only 6 of 36 cancers were diagnosed during a PJS-specific surveillance, thus indicating that the management of these rare patients is still particularly difficult in our county.

Jump to article abstract –

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers
syndrome patients: Results of an Italian multicenter study.

Resta N, Pierannunzio D, Lenato GM, Stella A, Capocaccia R, Bagnulo R, Lastella
P, Susca FC, Bozzao C, Loconte DC, Sabbà C, 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.

Department of Biomedical Sciences and Human Oncology, Medical Genetics Unit,
"Aldo Moro" University of Bari, Italy. Electronic address:

Dig Liver Dis. 2013 Feb 15. pii: S1590-8658(12)00496-3. doi:
10.1016/j.dld.2012.12.018. [Epub ahead of print]
PMID: 23415580

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 centres, were enrolled in a retrospective cohort study. Relative and cumulative cancer risks and genotype-phenotype correlations were evaluated.

RESULTS: 36 malignant tumours 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 for females (22.0) than in males (8.6) Highly increased relative risks were present for gastrointestinal (126.20 and gynaecological 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, 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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