Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

Delnatte, Capucine; Sanlaville, Damien; Mougenot, J F; Vermeesch, Joris Robert; Houdayer, Claude; Blois, Marie Christine De; Geneviève, David; Goulet, Olivier; Fryns, J. P.; Jaubert, Françis; Vekemans, Michel; Lyonnet, Stanislas; Romana, Serge; Eng, Charis; Stoppa‐Lyonnet, Dominique

doi:10.1086/504301

Cited by 131 publications

(132 citation statements)

References 44 publications

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“…Daneben ist möglicher-weise das Risiko für Pankreaskarzinome erhöht [382 -386]. Bei sehr schweren frühmanifesten Verläufen ist an die seltene juvenile Polyposis des Kleinkindesalters zu denken [387].…”

Section: Level Of Evidence 1cunclassified

S3-Leitlinie – Kolorektales Karzinom

Schmiegel

Buchberger

Follmann³

et al. 2017

Z Gastroenterol

151

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Section: Level Of Evidence 1cunclassified

S3-Leitlinie – Kolorektales Karzinom

Schmiegel

Buchberger

Follmann³

et al. 2017

Z Gastroenterol

151

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“…Polyps occur diffusely in the stomach, small bowel and colon. The condition is caused by microdeletions of the 10q23.2-10q23.3 region, which contains the BMPR1A and PTEN genes [Delnatte et al, 2006;Dahdaleh et al, 2012]. This explains not only the severe GI phenotype but also the presence of congenital abnormalities and hypotonia.…”

Section: Pten Hamartoma Tumor Syndrome(s) (Phts)mentioning

confidence: 99%

The growing complexity of the intestinal polyposis syndromes

Cordisco

Risio

Venesio

et al. 2013

American J of Med Genetics Pt A

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Familial adenomatous polyposis has been the first form of inherited intestinal polyposis to be recognized. For a long time it has been considered the main polyposis syndrome, associated with an easily recognizable phenotype, with a marginal role attributed to a few very rare hamartomatous conditions. More recently, it has been gradually demonstrated that the intestinal polyposes encompass a range of conditions within a wide spectrum of disease severity, polyp histology, and extraintestinal manifestations. A growing number of genes and phenotypes has been identified, and heterogeneity of somatic molecular pathways underlying epithelial transformation in different syndromes and associated tumors has been documented. Increasing knowledge on the molecular bases and more widespread use of genetic tests has shown phenotypic overlaps between conditions that were previously considered distinct, highlighting diagnostic difficulties. With the advent of next generation sequencing, the diagnosis and the classification of these syndromes will be progressively based more on genetic testing results. However, the phenotypic variability documented among patients with mutations in the same genes cannot be fully explained by different expressivity, indicating a role for as yet unknown modifying factors. Until the latter will be identified, the management of patients with polyposis syndromes should be guided by both clinical and genetic findings. © 2013 Wiley Periodicals, Inc.

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“…Juvenile polyposis is a rare condition, defined as the occurrence of multiple juvenile hamartomatous polyps in the gastrointestinal tract [1,2]. It includes a clinically and genetically heterogeneous group of conditions and more often presents in older children and young adults [2].…”

mentioning

confidence: 99%

Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach

Oliveira

Cunha

Almeida

et al. 2013

Journal of Pediatric Surgery

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Juvenile polyposis of infancy is the most severe and life-threatening form of juvenile polyposis. This disease typically presents in the first two years of life with gastrointestinal bleeding, diarrhea, inanition, and exudative enteropathy. In very few reports concerning this entity, a large deletion in the long arm of chromosome 10 (10q23), encompassing the PTEN and BMPR1A genes, was found. The authors report a case of delayed diagnosis of juvenile polyposis of infancy at 6 years of age. A 3.34 Mb long de novo deletion was identified at 10q23.1q23.31, encompassing the PTEN and BMPR1A genes. The disease course was severe with diarrhea, abdominal pain, inanition, refractory anemia, rectal bleeding, hypoalbuminemia, and exudative enteropathy. A sub-total colectomy, combined with intraoperative endoscopic removal of ileal and rectal stump polyps, was required for palliative disease control.

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Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

Cited by 131 publications

References 44 publications

S3-Leitlinie – Kolorektales Karzinom

S3-Leitlinie – Kolorektales Karzinom

The growing complexity of the intestinal polyposis syndromes

Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach

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