High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome

Lier, Margot G F van; Westerman, Anne Marie; Wagner, Anja; Looman, Caspar W.N.; Wilson, J. H. P.; Rooij, Felix W.M. de; Lemmens, Valery; Kuipers, Ernst J.; Mathus-Vliegen, Elisabeth M. H.; Leerdam, Monique E. van

doi:10.1136/gut.2010.223750

Cited by 177 publications

(139 citation statements)

References 53 publications

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“…Moreover, GC risk is elevated in several other hereditary cancer syndromes, namely Lynch syndrome caused by germline mutations in one of the DNA mismatch repair genes [11][12][13], Li-Fraumeni syndrome caused by TP53 germline mutations [14][15][16], familial adenomatous polyposis caused by APC germline mutations [17,18], Peutz-Jeghers syndrome caused by STK11 germline mutations [19][20][21], juvenile polyposis syndrome caused by SMAD4 or BMPR1A germline mutations [22,23], and hereditary breast or ovarian cancer syndrome caused by BRCA1 or BRCA2 germline mutations [10,24,25].…”

Section: Introductionmentioning

confidence: 99%

Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future

Post

Gullo

Oliveira

et al. 2016

Advances in Experimental Medicine and Biology

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Familial clustering is seen in 10% of gastric cancer cases and approximately 1-3% of gastric cancer arises in the setting of hereditary diffuse gastric cancer (HDGC). In families with HDGC, gastric cancer presents at young age. HDGC is predominantly caused by germline mutations in CDH1 and in a minority by mutations in other genes, including CTNNA1. Early stage HDGC is characterized by a few, up to dozens of intramucosal foci of signet ring cell carcinoma and its precursor lesions. These include in situ signet ring cell carcinoma and pagetoid spread of signet ring cells. Advanced HDGC presents as poorly cohesive/diffuse type carcinoma, normally with very few typical signet ring cells, and has a poor prognosis.Currently, it is unknown which factors drive the progression towards aggressive disease, but it is clear that most intramucosal lesions will not have such progression.Immunohistochemical profile of early and advanced HDGC is often characterised by abnormal E-cadherin immunoexpression, including absent or reduced membranous expression, as well as "dotted" or cytoplasmic expression. However, membranous expression of E-cadherin does not exclude HDGC. Intramucosal HDGC (pT1a) presents with an "indolent" phenotype, characterized by typical signet ring cells without immunoexpression of Ki-67 and p53, while advanced carcinomas (pT>1) display an "aggressive" phenotype with pleomorphic cells, that are immunoreactive for Ki-67 and p53. These features show that the IHC profile is different between intramucosal and more advanced HDGC, providing evidence of phenotypic heterogeneity, and may help to define predictive biomarkers of progression from indolent to aggressive, widely invasive carcinomas.6

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Section: Introductionmentioning

confidence: 99%

Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future

Post

Gullo

Oliveira

et al. 2016

Advances in Experimental Medicine and Biology

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“…Definitive surgical resection remains the recommended treatment in most of the cases of PJS associated with intussusception because of the large proportion of structural causes and to exclude the possibility of malignancy [30]. The choice of the procedure was determined by the location, size, cause, and viability of the bowel.…”

Section: Discussionmentioning

confidence: 99%

Adult Intussusception in Patients with Peutz-Jeghers Syndrome: Case Series and Review of Literature

Mlees¹,

El-Bakary²,

El-Gendy³

et al. 2017

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Background: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentations in the mouth, facial skin, hands & feet. Small bowel obstruction, intussusception, bleeding, intestinal and extra-intestinal malignancies are the major complications of PJS. The aim of this study is to analyze the clinical characteristics, preoperative diagnosis, and surgical management of PJS associated-intussusception in adults. Patients and Methods: This study included 5 cases with intussusception in PJS patients presented to Surgical

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“…The penetrance for GI polyps in this syndrome is 100%. There is also a 76-85% lifetime risk of cancer which includes lifetime risks of 40% for colon cancer, 30-60% for gastric cancer, 15-30% for small intestinal cancer and 11-35% for pancreatic cancer (Hearle et al, 2006, van Lier et al, 2010van Lier et al, 2011). Breast and gynaecological cancers can be seen at high frequencies.…”

Section: Peutz-jeghers Syndromementioning

confidence: 99%

“…There is a high mortality associated with this syndrome with a median age of death at 45 years of life, mostly due to cancer or bowel intussusceptions (van Lier et al, 2011).…”

Section: Peutz-jeghers Syndromementioning

confidence: 99%

Germline Genetics in Colorectal Cancer Susceptibility and Prognosis

Toland¹

2012

Colorectal Cancer Biology - From Genes to Tumor

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High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome

Abstract: PJS patients carry high cancer risks, leading to increased mortality. The malignancies occur particularly in the GI tract and develop at young age. These results justify surveillance in order to detect malignancies in an early phase to improve outcome.

Cited by 177 publications

References 53 publications

Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future

Histopathological, Molecular, and Genetic Profile of Hereditary Diffuse Gastric Cancer: Current Knowledge and Challenges for the Future

Adult Intussusception in Patients with Peutz-Jeghers Syndrome: Case Series and Review of Literature

Germline Genetics in Colorectal Cancer Susceptibility and Prognosis

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