Prédisposition héréditaire aux cancers digestifs, mammaires, gynécologiques et gonadiques : état des lieux du syndrome de Peutz-Jeghers

Turpin, Anthony; Cattan, Stéphane; Leclerc, Julie; Wacrenier, Agnès; Manouvrier‐Hanu, Sylvie; Buisine, Marie‐Pierre; Lejeune-Dumoulin, S.

doi:10.1684/bdc.2014.1942

Cited by 18 publications

(10 citation statements)

References 42 publications

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“…Genetic mutation in the serine/threonine protein kinase is the major etiological factor of this syndrome . The polyps are mainly located in the small intestine and have also been reported to be found in the stomach, colorectum, and even extraintestinal sites including the nasal passages, bronchus, renal pelvis and ureters . GI symptoms mostly present during childhood or adolescence.…”

Section: Discussionmentioning

confidence: 99%

“…10,11 The polyps are mainly located in the small intestine and have also been reported to be found in the stomach, colorectum, and even extraintestinal sites including the nasal passages, bronchus, renal pelvis and ureters. 12 GI symptoms mostly present during childhood or adolescence. Bleeding, intestinal obstruction, and intussusception are the most common complications in patients with PJS, resulting in markedly higher morbidity and mortality rates.…”

Section: Discussionmentioning

confidence: 99%

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The role of double‐balloon enteroscopy in reducing the maximum size of polyps in patients with Peutz‐Jeghers syndrome: 12‐year experience

Wang

Bian

Zhu

et al. 2019

J of Digest Diseases

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Objective This study aimed to evaluate the role of double‐balloon enteroscopy (DBE) in treating intestinal polyps in patients with Peutz‐Jeghers syndrome (PJS). Methods All patients diagnosed with PJS who underwent a polypectomy under DBE from October 2006 to December 2018 were enrolled. Their clinical records, including surgical history, the method of DBE insertion, the number of DBE procedures, and the maximum size and number of the resected polyps, were retrospectively reviewed. Results Altogether 97 patients were enrolled. For both antegrade and retrograde DBE the maximum size of the resected polyps during the second hospitalization was significantly smaller than that during the first hospitalization (antegrade DBE: [2.13 ± 1.51] cm vs [3.63 ± 0.92] cm, P = 0.012; retrograde DBE: [1.20 ± 1.10] cm vs [2.95 ± 1.95] cm, P = 0.03), but was significantly larger than that during the third hospitalization (antegrade DBE: [2.13 ± 1.51] cm vs [0.88 ± 0.70] cm, P = 0.012; retrograde DBE: [1.20 ± 1.10] cm vs [0.46 ± 0.40] cm, P = 0.048). The interval between the second and third hospitalizations was significantly longer than that between the first and second hospitalizations ([899.00 ± 382.12] days vs [537.27 ± 326.28] days, P = 0.027). The success rate of total enteroscopy was 58.3% (28/48), which was not affected by a history of laparotomy (61.5% vs 52.4%, P = 0.528). The complication rate was 4.4%. Conclusion DBE is clinically safe and effective for the diagnosis and treatment of intestinal polyps in patients with PJS.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

The role of double‐balloon enteroscopy in reducing the maximum size of polyps in patients with Peutz‐Jeghers syndrome: 12‐year experience

Wang

Bian

Zhu

et al. 2019

J of Digest Diseases

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“…The clinical characteristic of carcinoma of colon is recurrence and distant metastasis [33]. Scientists have verified that tumors have obvious genetic correlation [34,35]. Hence, one can see that our clinical research focuses on the prognostic analysis from the perspective of gene transcription and visualizes it.…”

Section: Figure 8 Discussionmentioning

confidence: 99%

A Novel N7-Methylguanosine (M7g) Methylation-Associated Mirna Signature for Prognostic Value in Patient with Carcinoma of Colon

2022

JGEBR

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Background M7G methylation-associated genes were selected as the main research perspectives in this study, establishing a novel m7G methylation-associated miRNA risk signature for prognostic value in-patient with carcinoma of colon. Methods We identified two genes that are m7G methylation-associated and have been validated by searching in the PubMed database. The m7G methylation-associated miRNAs were screened via estimating the differentially expressed of miRNAs in 457 carcinoma of colon patient samples and 8 matched samples from a database named The Cancer Genome Atlas (TCGA). Selecting Single-factor Cox analyses as well as multi-factor Cox analyses constructed the risk signature of 12 m7G methylation-associated miRNAs. Nomograms was adopted to predict the potential impact of m7G methylation-associated miRNAs on occurrence, development. The functions of DEGs that deserving to be noticed were classified and analyzed by functional enrichment analysis. Disease ontology analysis was used to explore the potential connection various diseases and carcinoma of colon. The outcome of associated analysis about immunocyte or immunological functioning revealed that what role does immunocyte or immunological functioning play in the development of carcinoma of colon. Finally, the relationship between high or low expression of significantly DEGs and immune cells and immune function was analyzed. Results The results of nomogram analysis were as follows that the risk signature might predict the prognosis and the overall cumulative probability of survival (1-,3-,5-year) effectively about patients with carcinoma of colon. Through the analysis of Kaplan-Meier curve outcomes, we can draw a conclusion that depressed expressed of hsa-miR-21-3p might be significantly relevant with decreased survival of patients. What the analyses of Gene ontology (GO) , Kyoto Encyclopedia of Genes and Genomes (KEGG) and Disease ontology(DO),taking advantage of the common DEGs about risk score and immune score, demonstrated that these common DEGs play a partial role in the occurrence and development of tumors. Through disease ontology analysis, we found that eating disorder might be associated with carcinoma of colon. Conclusions M7G methylation-associated miRNAs were related to the prognosis of patients with carcinoma of colon. A risk signature established based on these miRNAs could effectively predict the survival rate of later period in patients with carcinoma of colon .According to the displayed outcome from Our research that m7G methylation-associated miRNA regulators can serve as reliable prognostic biomarkers of carcinoma of colon, which might Greater probably be applied as potential targets of therapeutic strategies.

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“…1 In PJS polyps can be located anywhere in the gastrointestinal tract, most commonly seen in the small bowel (70-90%), the colon (50%) and the stomach (25%). 2 Solitary Peutz-Jeghers polyps are generally have their origin in the small bowel, duodenum, colon, rectum and are extremely rare in the stomach, with only 8 well documented cases being reported to date. 3 PJS also known as periorificial lentiginosis with an incidence of 1/200,000 live-borns.…”

mentioning

confidence: 99%

An Unusual Case of Upper Gastro Intestinal Bleeding in a Adolescent Female

Debi

et al. 2017

IJRRT

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Prédisposition héréditaire aux cancers digestifs, mammaires, gynécologiques et gonadiques : état des lieux du syndrome de Peutz-Jeghers

Cited by 18 publications

References 42 publications

The role of double‐balloon enteroscopy in reducing the maximum size of polyps in patients with Peutz‐Jeghers syndrome: 12‐year experience

The role of double‐balloon enteroscopy in reducing the maximum size of polyps in patients with Peutz‐Jeghers syndrome: 12‐year experience

A Novel N7-Methylguanosine (M7g) Methylation-Associated Mirna Signature for Prognostic Value in Patient with Carcinoma of Colon

An Unusual Case of Upper Gastro Intestinal Bleeding in a Adolescent Female

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