Hereditary Generalized Juvenile Polyposis Associated with Pulmonary Arteriovenous Malformation

Cox, Kenneth L.; Frates, Ralph C.; Wong, Arlene; Gandhi, Gautam

doi:10.1016/s0016-5085(19)30517-7

Cited by 63 publications

(25 citation statements)

References 5 publications

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“…Although HHT, an autosomal dominant disorder of vascular dysplasia, is usually caused by germline mutations in the ENG or ACVRL1 ( ALK1 ) genes,21 there are several case reports of patients with combined symptoms of HHT and JPS 19 22 – 25. Recently, mutations in ENG were described in two patients with juvenile polyposis 10.…”

Section: Discussionmentioning

confidence: 99%

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

Aretz

Stienen

Uhlhaas

et al. 2007

Journal of Medical Genetics

211

170

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Background: In patients with juvenile polyposis syndrome (JPS) the frequency of large genomic deletions in the SMAD4 and BMPR1A genes was unknown. Methods: Mutation and phenotype analysis was used in 80 unrelated patients of whom 65 met the clinical criteria for JPS (typical JPS) and 15 were suspected to have JPS. Results: By direct sequencing of the two genes, point mutations were identified in 30 patients (46% of typical JPS). Using MLPA, large genomic deletions were found in 14% of all patients with typical JPS (six deletions in SMAD4 and three deletions in BMPR1A). Mutation analysis of the PTEN gene in the remaining 41 mutation negative cases uncovered a point mutation in two patients (5%). SMAD4 mutation carriers had a significantly higher frequency of gastric polyposis (73%) than did patients with BMPR1A mutations (8%) (p,0.001); all seven cases of gastric cancer occurred in families with SMAD4 mutations. SMAD4 mutation carriers with gastric polyps were significantly older at gastroscopy than those without (p,0.001). In 22% of the 23 unrelated SMAD4 mutation carriers, hereditary hemorrhagic telangiectasia (HHT) was also diagnosed clinically. The documented histologic findings encompassed a wide distribution of different polyp types, comparable with that described in hereditary mixed polyposis syndromes (HMPS). Conclusions: Screening for large deletions raised the mutation detection rate to 60% in the 65 patients with typical JPS. A strong genotype-phenotype correlation for gastric polyposis, gastric cancer, and HHT was identified, which should have implications for counselling and surveillance. Histopathological results in hamartomatous polyposis syndromes must be critically interpreted.

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Section: Discussionmentioning

confidence: 99%

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

Aretz

Stienen

Uhlhaas

et al. 2007

Journal of Medical Genetics

211

170

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“…18 First reports of the coexistence of an autosomal dominant juvenile gastrointestinal polyposis and PAVMs with digital clubbing date back to the early 1980s. [75][76][77] Juvenile polyposis, a predisposing factor in gastrointestinal malignancy, was subsequently shown to be associated with mutations in either MADH4 or BMPRIA. 78 79 In 2004, Gallione et al described patients from seven unrelated families meeting the diagnostic criteria of both juvenile polyposis and HHT and carrying mutations in the MADH4 gene, but none in ENG or ACVRL1 genes.…”

Section: Madh4 Mutations In Combined Syndrome Of Juvenile Polyposis Amentioning

confidence: 99%

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

Abdalla

2005

Journal of Medical Genetics

331

295

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“…Clinical features combining the manifestations of both JP and HHT syndromes were reported during the past 30 years [26][27][28][29][30]. Ballauff and Koletzko [31] first hypothesized a linked autosomal dominant inheritance for the combined syndrome.…”

Section: Introductionmentioning

confidence: 99%

Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation

et al. 2012

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Hereditary Generalized Juvenile Polyposis Associated with Pulmonary Arteriovenous Malformation

Cited by 63 publications

References 5 publications

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease

Juvenile polyposis, hereditary hemorrhagic telangiectasia, and early onset colorectal cancer in patients with SMAD4 mutation

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