Very high risk of cancer in familial Peutz-Jeghers syndrome.

@article{Giardiello2000VeryHR,
  title={Very high risk of cancer in familial Peutz-Jeghers syndrome.},
  author={Frank M Giardiello and Jill D. Brensinger and Anne C. Tersmette and Steven N. Goodman and Gloria M. Petersen and Susan V. Booker and Marcia Roxana Cruz-Correa and Johan G. A. Offerhaus},
  journal={Gastroenterology},
  year={2000},
  volume={119 6},
  pages={
          1447-53
        }
}
BACKGROUND & AIMS The Peutz-Jeghers syndrome (PJS) is an autosomal dominant polyposis disorder with increased risk of multiple cancers, but literature estimates of risk vary. METHODS We performed an individual patient meta-analysis to determine the relative risk (RR) of cancer in patients with PJS compared with the general population based on 210 individuals described in 6 publications. RESULTS For patients with PJS, the RR for all cancers was 15.2 (95% confidence limits [CL], 2, 19). A… 
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[Family study in Peutz-Jeghers syndrome].

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80 References

Increased risk of cancer in the Peutz-Jeghers syndrome.

It is suggested that patients with the Peutz-Jeghers syndrome have an increased risk for the development of cancer at gastrointestinal and nongastrointestinal sites.

Increased Risk for Cancer in Patients with the Peutz-Jeghers Syndrome

On the basis of previous reports of increased risk for cancer in patients with the Peutz-Jeghers syndrome and the predisposition to cancer seen with other polyposis syndromes, this cohort of patients was followed to characterize the development of cancer.

Peutz-Jeghers syndrome: its natural course and management.

Cancer was lower than in patients with familial polyposis coli but higher than in the general population, and Conservative surgical management, planned medical follow-up, and the need for a national registration system are stressed.

Cancer and the Peutz-Jeghers syndrome.

There is evidence for a hamartoma/carcinoma sequence in the Peutz-Jeghers syndrome, suggesting that the gene locus involved is relevant to the development of malignancy in general.

Intestinal carcinoma in the Peutz-Jeghers syndrome.

The well-known tendency for multiple polyposis of the colon to develop malignancy apparently holds to some degree for the small-bowel polyps in cases of this syndrome, and this conclusion was supported in subsequent early reports.

Peutz-Jeghers syndrome and metastasising colonic adenocarcinoma.

A case of metastasising colonic carcinoma associated with Peutz-Jeghers syndrome in a 39 year old man showing no evidence of dysplasia or malignancy and the use of this determination as a screening test for so-called high risk groups is not supported.

Malignant degeneration and metastasis in Peutz-Jeghers syndrome.

A survey of the English language literature through reviews and individual case reports still fails to reveal a single, well-documented case of metastasis or death directly attributable to malignant degeneration of a polyp at any site in the Peutz-Jeghers syndrome.

Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome.

Evidence is provided that STK11 is a tumor suppressor gene that acts as an early gatekeeper regulating the development of hamartomas in PJS and suggest that hamartoma may be pathogenetic precursors of adenocarcinoma.

Peutz-Jeghers polyposis associated with carcinoma of the digestive organs

Although mucocutaneous pigmentation was not present in two of the three patients, the features of intestinal polyposis are consistent with those of Peutz-Jeghers syndrome, and a possible surveillance protocol for early detection of gastrointestinal carcinoma in patients with Peutz’s syndrome is discussed.

Peutz-Jeghers syndrome associated with gastrointestinal carcinoma. Report of two cases in a family.

Two cases of metastasising gastrointestinal carcinoma associated with the Peutz-Jeghers syndrome are described, which indicate that hamartomatous polyps may, in some cases, be the precursors of digestive tract carcinomas.
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