Low-level parental mosaicism in an apparent de novo case of Peutz–Jeghers syndrome

Butel-Simoes, Grace; Spigelman, A D; Scott, Rodney J.; Vilain, Ricardo E.

doi:10.1007/s10689-018-0093-3

Cited by 12 publications

(6 citation statements)

References 24 publications

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“…14 However, in 10%-15% of patients, a PV in STK11 was still not detected. In 2016, the first report of mosaicism for a PV in STK11 was published 15 and this was followed by Butel-Simoes et al 16 and our own case report in 2021. 17 In the present study, we found that 82% of the Danish patients carried a PV that could be detected with Sanger sequencing, while larger CNVs were identified in 13%.…”

Section: Considerations On Geneticsmentioning

confidence: 70%

Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study

et al. 2023

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Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%-15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2-83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize

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Section: Considerations On Geneticsmentioning

confidence: 70%

Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study

et al. 2023

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“…Seven PJS patients with somatic chimerism have been identified so far, and polygenic combinations involving STK11 and other target genes may also be considered. 26,27 STK11 and other target genes have a variety of mutation types and loci, most of which are frameshifts or insignificant variations. 11,25,28 At present, effective mutation targets cannot be found from the complex and redundant massive data on gene mutation.…”

Section: Research Progress On Pathogenesis Of Pjsmentioning

confidence: 99%

Cancer Risk of Peutz–Jeghers Syndrome and Treatment Experience: A Chinese Medical Center

2023

Clin Colon Rectal Surg

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Peutz–Jeghers syndrome (PJS), also known as hereditary mucocutaneous pigmented gastrointestinal polyposis, is a clinically rare autosomal dominant genetic disease, which falls into the category of hereditary colorectal cancer. There are ∼7,000 new cases of PJS in China every year, and 170,000 PJS patients may survive for a long time in society. PJS polyps are characterized by an early age of onset, difficult diagnosis and treatment, and easy recurrence. With repeated growth, polyps can lead to serious complications such as intestinal obstruction, intussusception, gastrointestinal bleeding, and cancerization, which cause serious clinical problems. Due to repeated hospitalization and endoscopic follow-up, PJS patients and their families suffer from great physical and mental pain and economic burden. With the in-depth understanding of PJS and the development and popularization of endoscopic techniques in the past decade, an integrated treatment modality based on endoscopy plus surgery has gradually become the preferred treatment in most hospitals, which greatly improves the quality of life of PJS patients. However, there is still a lack of effective drug prevention and cure means. In this paper, the current clinical treatment means for PJS polyps were summarized by literature review combined with the treatment experience of our medical center, with a focus on their clinical diagnosis, treatment, and cancer risk.

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“…Genetic heterogeneity has been suggested on the basis that PVs are not found in all patients with PJS; however, despite considerable effort, no other gene has been associated with PJS so far [21,30,[41][42][43][44]. Patients without detectable PVs might be explained by variants in non-coding sequences, limitations in technique, misdiagnosis, as well as mosaicism-the latter having been reported in a few case reports [45,46]. Screening for STK11 mosaicism in blood or other tissue could be considered in patients who fulfill clinical criteria for PJS but without a detectable PV by initial genetic screening.…”

Section: Stk11 (Lkb1) (Mim 602216mentioning

confidence: 99%

The Management of Peutz–Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline

Wagner

Aretz

Auranen

et al. 2021

JCM

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The scientific data to guide the management of Peutz–Jeghers syndrome (PJS) are sparse. The available evidence has been reviewed and discussed by diverse medical specialists in the field of PJS to update the previous guideline from 2010 and formulate a revised practical guideline for colleagues managing PJS patients. Methods: Literature searches were performed using MEDLINE, Embase, and Cochrane. Evidence levels and recommendation strengths were assessed using the Grading of Recommendations Assessment, Development and Evaluation (GRADE). A Delphi process was followed, with consensus being reached when ≥80% of the voting guideline committee members agreed. Recommendations and statements: The only recent guidelines available were for gastrointestinal and pancreatic management. These were reviewed and endorsed after confirming that no more recent relevant papers had been published. Literature searches were performed for additional questions and yielded a variable number of relevant papers depending on the subject addressed. Additional recommendations and statements were formulated. Conclusions: A decade on, the evidence base for recommendations remains poor, and collaborative studies are required to provide better data about this rare condition. Within these restrictions, multisystem, clinical management recommendations for PJS have been formulated.

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Low-level parental mosaicism in an apparent de novo case of Peutz–Jeghers syndrome

Cited by 12 publications

References 24 publications

Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study

Survival, surveillance, and genetics in patients with Peutz–Jeghers syndrome: A nationwide study

Cancer Risk of Peutz–Jeghers Syndrome and Treatment Experience: A Chinese Medical Center

The Management of Peutz–Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline

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