A Case of Peutz-Jeghers Syndrome Presenting With an Inoperable Periampullary Tumor

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Abstract

Peutz-Jeghers syndrome (PJS) is a syndrome characterized by multiple hamartomatous polyps in the gastrointestinal system and melanin pigments accumulating in the skin and mucous membranes. Patients with PJS have an increased risk of gastrointestinal malignancies. In this syndrome, pancreatic cancer is primarily detected in older ages. In this article, we present a case of a patient with an unresectable periampullary tumor and PJS.

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Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.

Fred H Menko, Brigitte Royer-Pokora, G Offerhaus … (2006)

Although an increased cancer risk in Peutz-Jeghers syndrome is established, data on the spectrum of tumors associated with the disease and the influence of germ-line STK11/LKB1 (serine/threonine kinase) mutation status are limited. We analyzed the incidence of cancer in 419 individuals with Peutz-Jeghers syndrome, and 297 had documented STK11/LKB1 mutations. Ninety-six cancers were found among individuals with Peutz-Jeghers syndrome. The risk for developing cancer at ages 20, 30, 40, 50, 60, and 70 years was 2%, 5%, 17%, 31%, 60%, and 85%, respectively. The most common cancers represented in this analysis were gastrointestinal in origin, gastroesophageal, small bowel, colorectal, and pancreatic, and the risk for these cancers at ages 30, 40, 50, and 60 years was 1%, 9%, 15%, and 33%, respectively. In women with Peutz-Jeghers syndrome, the risk of breast cancer was substantially increased, being 8% and 31% at ages 40 and 60 years, respectively. Kaplan-Meier analysis showed that cancer risks were similar in Peutz-Jeghers syndrome patients with identified STK11/LKB1 mutations and those with no detectable mutation (log-rank test of difference chi2 = 0.62; 1 df; P = 0.43). Furthermore, the type or site of STK11/LKB1 mutation did not significantly influence cancer risk. The results from our study provide quantitative information on the spectrum of cancers and risks of specific cancer types associated with Peutz-Jeghers syndrome.

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Peutz-Jeghers syndrome: a systematic review and recommendations for management.

A R Latchford, A Stormorken, Trent Hodgson … (2010)

Peutz-Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. The cancer risks in this condition are substantial, particularly for breast and gastrointestinal cancer, although ascertainment and publication bias may have led to overestimates in some publications. Current surveillance protocols are controversial and not evidence-based, due to the relative rarity of the condition. Initially, endoscopies are more likely to be done to detect polyps that may be a risk for future intussusception or obstruction rather than cancers, but surveillance for the various cancers for which these patients are susceptible is an important part of their later management. This review assesses the current literature on the clinical features and management of the condition, genotype-phenotype studies, and suggested guidelines for surveillance and management of individuals with PJS. The proposed guidelines contained in this article have been produced as a consensus statement on behalf of a group of European experts who met in Mallorca in 2007 and who have produced guidelines on the clinical management of Lynch syndrome and familial adenomatous polyposis.

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High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations.

Ewout W. Steyerberg, Digna van Schaik, Anthony M Waas … (2010)

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder associated with increased cancer risk. Surveillance and patient management are, however, hampered by a wide range in cancer risk estimates. We therefore performed a systematic review to assess cancer risks in PJS patients and used these data to develop a surveillance recommendation. A systematic PubMed search was performed up to February 2009, and all original articles dealing with PJS patients with confirmed cancer diagnoses were included. Data involving cancer frequencies, mean ages at cancer diagnosis, relative risks (RRs), and cumulative risks were collected. Twenty-one original articles, 20 cohort studies, and one meta-analysis fulfilled the inclusion criteria. The cohort studies showed some overlap in the patient population and included a total of 1,644 patients; 349 of them developed 384 malignancies at an average age of 42 years. The most common malignancy was colorectal cancer, followed by breast, small bowel, gastric, and pancreatic cancers. The reported lifetime risk for any cancer varied between 37 and 93%, with RRs ranging from 9.9 to 18 in comparison with the general population. Age-related cumulative risks were given for any cancer and gastrointestinal, gynecological, colorectal, pancreatic, and lung cancers. PJS patients are markedly at risk for several malignancies, in particular gastrointestinal cancers and breast cancer. On the basis of these elevated risks, a surveillance recommendation is developed to detect malignancies in an early phase and to remove polyps that may be premalignant and may cause complications, so as to improve the outcome.

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Author and article information

Journal

Journal ID (nlm-ta): Cureus

Journal ID (iso-abbrev): Cureus

Journal ID (issn): 2168-8184

Title: Cureus

Publisher: Cureus (Palo Alto (CA) )

ISSN (Electronic): 2168-8184

Publication date (Electronic, pub): 8 April 2021

Publication date (Electronic, collection): April 2021

Volume: 13

Issue: 4

Electronic Location Identifier: e14359

Affiliations

[1 ] General Surgery, Istanbul Sultanbeyli State Hospital, Istanbul, TUR

[2 ] General Surgery, Marmara University School of Medicine, Istanbul, TUR

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Muhammer Ergenç muhammerergenc@ 123456gmail.com

Article

DOI: 10.7759/cureus.14359

PMC ID: 8105654

PubMed ID: 33972912

SO-VID: 8200c2d9-3a8f-433f-a0b0-2dfe0a360028

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This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

A Case of Peutz-Jeghers Syndrome Presenting With an Inoperable Periampullary Tumor

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Abstract

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Most cited references 10

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.

Peutz-Jeghers syndrome: a systematic review and recommendations for management.

High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations.

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