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

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Abstract

Background and aim

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is a pigmented fundus lesion associated with familial adenomatous polyposis (FAP). CHRPE prevalence has been reported to be increased in subjects with familial or sporadic non-polyposis colorectal cancer (CRC), suggesting that some individuals with non-polyposis CRC have an attenuated form of FAP. Other studies have not confirmed these clinical observations and have failed to identify mutations in the gene responsible for FAP, but the reason for the discrepancy in relation to CHRPE prevalence has not been resolved. We determined the prevalence of CHRPE in subjects without CRC (negative control cohort), subjects with FAP (positive control cohort), and subjects with familial non-polyposis CRC (test cohort).

Method

A cohort study consisting of 37 negative control subjects, 9 positive control subjects with documented APC gene mutations, and 36 test subjects with familial non-polyposis CRC but no identified pathogenic APC gene mutation. The diagnosis of hereditary non-polyposis colon cancer was excluded in the test cohort by testing for microsatellite instability in tumour tissue.

Results

None of the 37 people in the negative control group had CHRPE. Five of nine (56%) patients with FAP had multiple CHRPE lesions. None of the 36 subjects in the test cohort had CHRPE lesions.

Conclusions

Ophthalmoscopy may contribute to risk assessment in families with FAP but not in familial non-polyposis CRC. Care must be exercised when interpreting pigmented fundus lesions because 8–13% of subjects in each of the cohorts had pigmented retinal lesions that were not CHRPE. Bilateral lesions and lesions with a depigmented halo␣were the hallmarks of CHRPE associated with FAP.

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Acknowledgements

We thank the subjects for their participation, the Perpetual Trustee for financial support, the staff of the Familial Cancer Unit for assistance with patient recruitment, and Drs. Trevor Hodson, Mark Perks, and Philip Clem for their assistance. This work was supported by a grant from the Baxter Charitable Foundation, Perpetual Trustee, Sydney, Australia (CSC). JEC is supported by a Practitioner-Fellowship from the National Health and Medical Research Council.

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Authors and Affiliations

  1. Ocular Oncology Unit, Department of Ophthalmology, Royal Adelaide Hospital, Adelaide, SA, Australia

    Celia S. Chen & James S. Muecke

  2. Department of Ophthalmology, Flinders Medical Centre, Bedford Park, SA, Australia

    Celia S. Chen & Jamie E. Craig

  3. Familial Cancer Unit, SA Clinical Genetics Service, Children’s Youth & Women’s Health Service, North Adelaide, SA, Australia

    Kerry D. Phillips & Graeme K. Suthers

  4. Department of Haematology & Genetic Pathology, Flinders Medical Centre, Bedford Park, SA, Australia

    Scott Grist

  5. Division of Molecular Pathology, Institute of Medical & Veterinary Science, Adelaide, SA, Australia

    Graeme Bennet

  6. Department of Paediatrics, University of Adelaide, Adelaide, SA, Australia

    Graeme K. Suthers

  7. The Wilmer Ophthalmological Institute, Maumenee 127, The Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD, 21287-9204, USA

    Celia S. Chen

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  1. Celia S. Chen
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Correspondence to Celia S. Chen.

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Chen, C.S., Phillips, K.D., Grist, S. et al. Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer. Familial Cancer 5, 397–404 (2006). https://doi.org/10.1007/s10689-006-0011-y

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  • DOI: https://doi.org/10.1007/s10689-006-0011-y

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