Value of the Congenital Hypertrophy of the Retinal Pigment Epithelium in the Diagnosis of Familial Adenomatous Polyposis

Touriño, Rosario; Conde-Freire, Rogelio; Cabezas-Agrícola, José Manuel; Rodríguez-Aves, Teresa; López-Valladares, María Jesús; Otero-Cepeda, José L; Capeáns, C.

doi:10.1023/b:inte.0000031739.62559.ac

Cited by 31 publications

(40 citation statements)

References 37 publications

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“…CHRPE is a congenital manifestation of APC gene mutations that is not age-dependent and hence could provide a useful marker of patients with a germline APC gene mutation [31]. This possibility has been addressed on a number of occasions and by different means with conflicting outcomes [9,16,[19][20][21][22].…”

Section: Discussionmentioning

confidence: 99%

“…In our experience, pigmented retinal lesions occurred commonly in both control and test subjects and the distinction between CHRPE and other pigmented lesions was not always simple. Furthermore, small pigmented ''dots'' are frequent in fundus examinations in the general population [16,36], especially in the far periphery where retina is thin and there may be varying degrees of pigmentation from the underlying dark choroid. These do not have clinical significance in the context of CHRPEs and FAP.…”

Section: Discussionmentioning

confidence: 99%

“…Type C lesions are large and pigmented. A lesion is classified as large if it is greater than half a disc diameter [16]. Type D lesions are large atrophic lesions with or without a depigmented halo.…”

Section: Introductionmentioning

confidence: 99%

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Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

et al. 2006

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

et al. 2006

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“…It was reported that there is no association between CHRPE characteristics and FAP phenotype variants [7] . It was reported that the rate of CHRPE is 75%-80% in Western FAP patients [8] and 93.75% in Chinese FAP families.…”

Section: Discussionmentioning

confidence: 98%

Clinical features of familial adenomas polyps in Chinese and establishment of its immortal lymphocyte cell lines

Cai¹,

Zhang²,

Zheng³

2007

WJG

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AIM: To reserve the rare Chinese familial adenomas polyp (FAP) family resource and to investigate the clinical features of FAP in Chinese for its diagnosis. METHODS:Clinical features of patients with FAP were investigated. If there is any question, their medical records were verified. Blood sample was taken and lymphocyte immortal cell lines were established with modified EB-transformation methods. Congenital hypertrophy of retinal pigment epithelium (CHRPE) was checked by an experienced ophthalmologist. RESULTS:Twenty seven families including 21 classical FAP (CFAP) families, 3 attenuated FAP (AFAP) families, and 3 suspected AFAP families were investigated. A total of 116 lymphocyte immortal cell lines were established from 26 families. In all the FAP families, colorectal cancer occurred at the mean age of 42.84 years. Of the 16 families checked, 15 (93.75%) had CHRPE. The mean number of patients suffering from colorectal neoplasm was 3.14 in CFAP families and 2.0 in AFAP families (P < 0.01). The mean oldest age at diagnosis of FAP was 41.75 years in CFAP families, and 58.67 years in AFAP families, respectively (P < 0.01). Mean age of development of colorectal cancer was 42.23 in CFAP and 57.33 years old in AFAP (P < 0.01). Mean of the earliest age at diagnosis of FAP was 29.95 years in the FAP families with a positive family history and 46.80 years in the FAP families with a negative family history (P < 0.01). The ratio of extra-intestinal tumors to colorectal neoplasms was different in the two kinds of families with positive and negative family history (P < 0.01).CONCLUSION: Additional use of ciclosporin will effectively improve to establish lymphocyte immortal cell lines with modified EB-transformation methods. In Chinese FAP, there was a high frequency of CHRPE , and a later age at diagnosis and a later age of development of colorectal cancer in AFAP. And earlier age at diagnosis in FAP with positive family history was also found that will help to diagnose various kinds of FAP in Chinese.

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“…Mutations downstream of codon 1,596 are frequently seen in AFAP (11). Mutations between codons 1,445 and 1,578 were associated with desmoid tumors, whereas those between codons 279 and 1,309 were correlated with the development of duodenal polyposis (22)(23)(24). While it appears promising to predict a patient's phenotype by the mutation site of the APC gene, this was proven to not be feasible in clinical practice.…”

Section: Discussionmentioning

confidence: 99%

Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis

Zhang

Jiang

et al. 2017

Experimental and Therapeutic Medicine

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Abstract. Familial adenomatous polyposis (FAP; Mendelian of Inherintance in Man ID, 175100) is a rare autosomal dominant disorder characterized by the development of numerous adenomatous polyps throughout the colon and rectum associated with an increased risk of colorectal cancer. FAP is at time accompanied with certain extraintestinal manifestations such as congenital hypertrophy of the retinal pigment epithelium, dental disorders and desmoid tumors. It is caused by mutations in the adenomatous polyposis coli (APC) gene. The present study reported on a Chinese family with FAP. Polymerase chain reaction and direct sequencing of the full coding sequence of the APC gene were performed to identify the mutation in this family. A nonsense mutation of the APC gene was identified in this pedigree. It is a heterozygous G>T substitution at position 2,971 in exon 15 of the APC gene, which formed a premature stop codon at amino acid residue 991 (p.Glu991*). The resulting truncated protein lacked 1,853 amino acids. The present study expanded the database on APC gene mutations in FAP and enriched the spectrum of known germline mutations of the APC gene. Prophylactic proctocolectomy may be considered as a possible treatment for carriers of the mutation.

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Value of the Congenital Hypertrophy of the Retinal Pigment Epithelium in the Diagnosis of Familial Adenomatous Polyposis

Abstract: Pigmented fundal lesions are highly pleomorphic and represent the variable expression of a common genetic defect of growth regulation. No association was found between CHRPE characteristics and specific FAP variants.

Cited by 31 publications

References 37 publications

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

Clinical features of familial adenomas polyps in Chinese and establishment of its immortal lymphocyte cell lines

Identification a nonsense mutation of APC gene in Chinese patients with familial adenomatous polyposis

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