Say What? Bannayan–Riley–Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception

Kethman, William; Rao, A. R.; Devereaux, Kelly A.; Ouellet, Etienne; Kin, Cindy

doi:10.1007/s10620-016-4443-4

Cited by 4 publications

(1 citation statement)

References 11 publications

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“…Polyps can be present at any level of the digestive tract, starting from the stomach to the level of the anus; from an anatomopathological point of view, polyps can be inflammatory, hamartomatous, adenomatous, or ganglioneuromatous [27]. Their presence is often detected due to rectal bleeding or intestinal blockage through intussusceptions [28]. There is a 9 to 16% lifetime risk for malignant transformations for polyps, with the average age of diagnosis being between 44 and 48 years [29].…”

Section: Gastrointestinal Manifestationsmentioning

confidence: 99%

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature

Jurca,

Frățilă,

Iliaș

et al. 2023

Genes

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Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance and variable expressivity, making early diagnosis difficult. Mutations in the PTEN gene (phosphatase and TENsin homolog) are involved in its pathogenesis, involving many organs and systems originating in the three embryonic layers (ectodermum, endodermum, and mesodermum). The consequence is the development of hamartomatous lesions in various organs (brain, intestines, thyroid, oropharyngeal cavity, colon, rectum, etc.). Multiple intestinal polyps are common in patients with CS, being identified in over 95% of patients undergoing colonoscopy. The authors describe the case of a patient who presented the first signs of the disease at 3 ½ years (tonsil polyp) but was diagnosed only at the age of 20 following a colonoscopy that revealed hundreds of intestinal polyps, suggesting further molecular testing. A heterozygous frameshift mutation was identified in the PTEN gene, classified as a potentially pathogenic variant (c.762del.p(Val255*)). The authors present this case to highlight the path taken by the patient from the first symptoms to the diagnosis and to emphasize the clinical aspects of this mutational variant that have still not been identified in other patients with this syndrome.

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Section: Gastrointestinal Manifestationsmentioning

confidence: 99%

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature

Jurca,

Frățilă,

Iliaș

et al. 2023

Genes

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PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

Macken

Tischkowitz

Lachlan

2019

American J of Med Genetics Pt C

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PTEN hamartoma tumor syndrome (PHTS) is a highly variable autosomal dominant condition associated with intellectual disability, overgrowth, and tumor predisposition phenotypes, which often overlap. PHTS incorporates a number of historical clinical presentations including Bannayan‐Riley‐Ruvalcaba syndrome, Cowden syndrome, and a macrocephaly‐autism/developmental delay syndrome. Many reviews in the literature focus on PHTS as an adult hamartoma and malignancy predisposition condition. Here, we review the current literature with a focus on pediatric presentations. The review starts with a summary of the main conditions encompassed within PHTS. We then discuss PHTS diagnostic criteria, and clinical features. We briefly address rarer PTEN associations, and the possible role of mTOR inhibitors in treatment. We acknowledge the limited understanding of the natural history of childhood‐onset PHTS as a cancer predisposition syndrome and present a summary of important management considerations.

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Gastrointestinal manifestations in PTEN hamartoma tumor syndrome

D'Ermo

Genuardi

2022

Best Practice & Research Clinical Gastroenterology

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Say What? Bannayan–Riley–Ruvalcaba Syndrome Presenting with Gastrointestinal Bleeding Due to Hamartoma-Induced Intussusception

Cited by 4 publications

References 11 publications

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature

A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

Gastrointestinal manifestations in PTEN hamartoma tumor syndrome

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