Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.

Distante, S; Nasioulas, Steven; Somers, Gino R.; Cameron, Donald J. S.; Young, Mary; Forrest, Susan M.; Gardner, R. J McKinlay

doi:10.1136/jmg.33.2.157

Cited by 44 publications

(31 citation statements)

References 31 publications

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“…The latter mutation, which accounts for about 20% of FAP pedigrees (Miyoshi et al, 1992a, 1992b, Varesco et al, 1993 and this study), tends to be associated with a very severe and early onset of the disease and CHRPE (Gayther et al, 1994). Distante et al (1996) reported a family in which a 5-year-old girl presented with rectal bleeding from extensive polyposis of the colon and her father had a colectomy for FAP at age 23 (Distante et al 1996). Accordingly, two of our unrelated patients with mutation 1309 had a very severe phenotype and a very early onset age, at 10 and 15 years, respectively.…”

Section: Resultsmentioning

confidence: 82%

The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations

et al. 2003

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Familial adenomatous polyposis (FAP), an autosomal dominantly inherited condition accounting for about 1% of all colorectal cancers, results from mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. The clinical spectrum and severity of FAP varies greatly with the mutation site, and both between and within families. Using the protein truncation test, single strand conformation polymorphism analysis and DNA sequencing, we identified 30 (75%) mutant alleles in 40 unrelated FAP families, for a total of 22 different APC mutations. Of these, 18 are known and 4 are novel: c.1797C>A (C599X), c.893_894delAC, (c.3225T>A; c.3226C>A) and c.4526_4527insT. Of the 30 APC gene mutations, 5 (approximately 17%) are nonsense mutations, 17 (approximately 57%) are small deletions, 5 (approximately 17%) are small insertions and 3 (approximately 10%) are complete deletions. All mutations occurred in single pedigrees, except those at codons 1061 and 1062, each found in two unrelated families, and the mutation at codon 1309 in exon 15, found in five unrelated families. About 40% of mutations, mostly small deletions and insertions, are located at repeated sequences; they promote misalignment-mediated errors in DNA replication and could represent a hot spot mutation region. This study enlarges the spectrum of APC gene mutations and sheds light on the correlation between the site of APC germline mutations and clinical manifestations of FAP.

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Section: Resultsmentioning

confidence: 82%

The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations

et al. 2003

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“…Although the mean age for the development of colon cancer in patients with FAP is 39 years, there are reports of cases with colon cancer in children as young as 5 years old. 27 The lifetime risk for colorectal cancer is 100%, and adenomas can develop in other regions of the gastrointestinal tract (e.g., stomach and duodenum). In addition, these patients were also at a 1% risk of developing a hepatoblastoma during infancy and early childhood.…”

Section: Discussionmentioning

confidence: 99%

Is Colonoscopy Necessary in Children Suspected of Having Colonic Polyps?

Lee¹,

Lee²,

Lee³

et al. 2010

Gut Liver

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“…Two children had familial adenomatous polyposis (FAP), a hereditary defect that produces multiple polyps in the mucosa and that progresses to cancer. The muscle is not involved in the production of polyps and the colon is removed to prevent cancer development (Distante et al 1996;Gunther et al 2003). The entire colon was removed from two FAP children (8 and 12 years) and samples were collected from eight regions distributed along the colon of each child (Fig.…”

Section: Patients and Samplesmentioning

confidence: 99%

Immunoreactivity for high-affinity choline transporter colocalises with VAChT in human enteric nervous system

et al. 2010

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Cholinergic nerves are identified by labelling molecules in the ACh synthesis, release and destruction pathway. Recently, antibodies against another molecule in this pathway have been developed. Choline reuptake at the synapse occurs via the high-affinity choline transporter (CHT1). CHT1 immunoreactivity is present in cholinergic nerve fibres containing vesicular acetylcholine transporter (VAChT) in the human and rat central nervous system and rat enteric nervous system. We have examined whether CHT1 immunoreactivity is present in nerve fibres in human intestine and whether it is colocalised with markers of cholinergic, tachykinergic or nitrergic circuitry. Human ileum and colon were fixed, sectioned and processed for fluorescence immunohistochemistry with antibodies against CHT1, class III beta-tubulin (TUJ1), synaptophysin, common choline acetyl-transferase (cChAT), VAChT, nitric oxide synthase (NOS), substance P (SP) and vasoactive intestinal peptide (VIP). CHT1 immunoreactivity was present in many nerve fibres in the circular and longitudinal muscle, myenteric and submucosal ganglia, submucosa and mucosa in human colon and ileum and colocalised with immunoreactivity for TUJ1 and synaptophysin confirming its presence in nerve fibres. In nerve fibres in myenteric ganglia and muscle, CHT1 immunoreactivity colocalised with immunoreactivity for VAChT and cChAT. Some colocalisation occurred with SP immunoreactivity, but little with immunoreactivity for VIP or NOS. In the mucosa, CHT1 immunoreactivity colocalised with that for VIP and SP in nerve fibres and was also present in vascular nerve fibres in the submucosa and on epithelial cells on the luminal border of crypts. The colocalisation of CHT1 immunoreactivity with VAChT immunoreactivity in cholinergic enteric nerves in the human bowel thus suggests that CHT1 represents another marker of cholinergic nerves.

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Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study.

Cited by 44 publications

References 31 publications

The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations

The mutation spectrum of the APC gene in FAP patients from southern Italy: Detection of known and four novel mutations

Is Colonoscopy Necessary in Children Suspected of Having Colonic Polyps?

Immunoreactivity for high-affinity choline transporter colocalises with VAChT in human enteric nervous system

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