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. 1996 Feb;33(2):157–160. doi: 10.1136/jmg.33.2.157

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

S Distante 1, S Nasioulas 1, G R Somers 1, D J Cameron 1, M A Young 1, S M Forrest 1, R J Gardner 1
PMCID: PMC1051844  PMID: 8929955

Abstract

A girl aged 5 years 8 months presented with rectal bleeding; her father had had familial adenomatous polyposis (FAP) and a colectomy at the age of 23. Endoscopy showed extensive polyposis and she had a colectomy. The proband and her father had the common codon 1309 5 bp deletion APC mutation. This mutation predisposes to early onset of FAP, and consideration needs to be given to having molecular testing of at risk members of these families done in childhood.

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Selected References

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  1. Abramson D. J. Multiple polyposis in children: a review and a report of a case in a 6-year-old child who had associated nephrosis and asthma. Surgery. 1967 Feb;61(2):288–301. [PubMed] [Google Scholar]
  2. Ando H., Miyoshi Y., Nagase H., Baba S., Nakamura Y. Detection of 12 germ-line mutations in the adenomatous polyposis coli gene by polymerase chain reaction. Gastroenterology. 1993 Apr;104(4):989–993. doi: 10.1016/0016-5085(93)90265-e. [DOI] [PubMed] [Google Scholar]
  3. Bodmer W. F., Bailey C. J., Bodmer J., Bussey H. J., Ellis A., Gorman P., Lucibello F. C., Murday V. A., Rider S. H., Scambler P. Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature. 1987 Aug 13;328(6131):614–616. doi: 10.1038/328614a0. [DOI] [PubMed] [Google Scholar]
  4. Burn J., Chapman P. D., Eastham E. J. Familial adenomatous polyposis. Arch Dis Child. 1994 Aug;71(2):103–105. doi: 10.1136/adc.71.2.103. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Bülow S. Clinical features in familial polyposis coli. Results of the Danish Polyposis Register. Dis Colon Rectum. 1986 Feb;29(2):102–107. doi: 10.1007/BF02555389. [DOI] [PubMed] [Google Scholar]
  6. Caspari R., Friedl W., Mandl M., Möslein G., Kadmon M., Knapp M., Jacobasch K. H., Ecker K. W., Kreissler-Haag D., Timmermanns G. Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet. 1994 Mar 12;343(8898):629–632. doi: 10.1016/s0140-6736(94)92634-4. [DOI] [PubMed] [Google Scholar]
  7. Caspari R., Olschwang S., Friedl W., Mandl M., Boisson C., Böker T., Augustin A., Kadmon M., Möslein G., Thomas G. Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444. Hum Mol Genet. 1995 Mar;4(3):337–340. doi: 10.1093/hmg/4.3.337. [DOI] [PubMed] [Google Scholar]
  8. Clarke A. The genetic testing of children. Working Party of the Clinical Genetics Society (UK) J Med Genet. 1994 Oct;31(10):785–797. doi: 10.1136/jmg.31.10.785. [DOI] [PMC free article] [PubMed] [Google Scholar]
  9. Clayton E. W. Removing the shadow of the law from the debate about genetic testing of children. Am J Med Genet. 1995 Jul 17;57(4):630–634. doi: 10.1002/ajmg.1320570423. [DOI] [PubMed] [Google Scholar]
  10. Cottrell S., Bicknell D., Kaklamanis L., Bodmer W. F. Molecular analysis of APC mutations in familial adenomatous polyposis and sporadic colon carcinomas. Lancet. 1992 Sep 12;340(8820):626–630. doi: 10.1016/0140-6736(92)92169-g. [DOI] [PubMed] [Google Scholar]
  11. Dalby S. GIG response to the UK Clinical Genetics Society report "The genetic testing of children". J Med Genet. 1995 Jun;32(6):490–491. doi: 10.1136/jmg.32.6.490. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Eccles D. M., Bunyan D. J., Needell J., Thompson M. Colon cancer in a 16-year-old girl. Lancet. 1995 Jun 24;345(8965):1643–1643. doi: 10.1016/s0140-6736(95)90152-3. [DOI] [PubMed] [Google Scholar]
  13. Fodde R., van der Luijt R., Wijnen J., Tops C., van der Klift H., van Leeuwen-Cornelisse I., Griffioen G., Vasen H., Khan P. M. Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis. Genomics. 1992 Aug;13(4):1162–1168. doi: 10.1016/0888-7543(92)90032-n. [DOI] [PubMed] [Google Scholar]
  14. Gayther S. A., Wells D., SenGupta S. B., Chapman P., Neale K., Tsioupra K., Delhanty J. D. Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli. Hum Mol Genet. 1994 Jan;3(1):53–56. doi: 10.1093/hmg/3.1.53. [DOI] [PubMed] [Google Scholar]
  15. Giardiello F. M., Hamilton S. R., Kern S. E., Offerhaus G. J., Green P. A., Celano P., Krush A. J., Booker S. V. Colorectal neoplasia in juvenile polyposis or juvenile polyps. Arch Dis Child. 1991 Aug;66(8):971–975. doi: 10.1136/adc.66.8.971. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Groden J., Thliveris A., Samowitz W., Carlson M., Gelbert L., Albertsen H., Joslyn G., Stevens J., Spirio L., Robertson M. Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 1991 Aug 9;66(3):589–600. doi: 10.1016/0092-8674(81)90021-0. [DOI] [PubMed] [Google Scholar]
  17. Hamilton S. R., Liu B., Parsons R. E., Papadopoulos N., Jen J., Powell S. M., Krush A. J., Berk T., Cohen Z., Tetu B. The molecular basis of Turcot's syndrome. N Engl J Med. 1995 Mar 30;332(13):839–847. doi: 10.1056/NEJM199503303321302. [DOI] [PubMed] [Google Scholar]
  18. Heiss K. F., Schaffner D., Ricketts R. R., Winn K. Malignant risk in juvenile polyposis coli: increasing documentation in the pediatric age group. J Pediatr Surg. 1993 Sep;28(9):1188–1193. doi: 10.1016/0022-3468(93)90162-e. [DOI] [PubMed] [Google Scholar]
  19. Leppert M., Dobbs M., Scambler P., O'Connell P., Nakamura Y., Stauffer D., Woodward S., Burt R., Hughes J., Gardner E. The gene for familial polyposis coli maps to the long arm of chromosome 5. Science. 1987 Dec 4;238(4832):1411–1413. doi: 10.1126/science.3479843. [DOI] [PubMed] [Google Scholar]
  20. Mandl M., Paffenholz R., Friedl W., Caspari R., Sengteller M., Propping P. Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis. Hum Mol Genet. 1994 Jan;3(1):181–184. doi: 10.1093/hmg/3.1.181. [DOI] [PubMed] [Google Scholar]
  21. Miyoshi Y., Ando H., Nagase H., Nishisho I., Horii A., Miki Y., Mori T., Utsunomiya J., Baba S., Petersen G. Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients. Proc Natl Acad Sci U S A. 1992 May 15;89(10):4452–4456. doi: 10.1073/pnas.89.10.4452. [DOI] [PMC free article] [PubMed] [Google Scholar]
  22. Nagase H., Nakamura Y. Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat. 1993;2(6):425–434. doi: 10.1002/humu.1380020602. [DOI] [PubMed] [Google Scholar]
  23. Nishisho I., Nakamura Y., Miyoshi Y., Miki Y., Ando H., Horii A., Koyama K., Utsunomiya J., Baba S., Hedge P. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science. 1991 Aug 9;253(5020):665–669. doi: 10.1126/science.1651563. [DOI] [PubMed] [Google Scholar]
  24. O'Riordain D. S., O'Dwyer P. J., Cullen A. F., McDermott E. W., Murphy J. J. Familial juvenile polyposis coli and colorectal cancer. Cancer. 1991 Aug 15;68(4):889–892. doi: 10.1002/1097-0142(19910815)68:4<889::aid-cncr2820680435>3.0.co;2-0. [DOI] [PubMed] [Google Scholar]
  25. Olschwang S., Laurent-Puig P., Groden J., White R., Thomas G. Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene. Am J Hum Genet. 1993 Feb;52(2):273–279. [PMC free article] [PubMed] [Google Scholar]
  26. Peck D. A., Watanabe K. S., Trueblood H. W. Familial polyposis in children. Dis Colon Rectum. 1972 Jan-Feb;15(1):23–29. doi: 10.1007/BF02587664. [DOI] [PubMed] [Google Scholar]
  27. Presciuttini S., Varesco L., Sala P., Gismondi V., Rossetti C., Bafico A., Ferrara G. B., Bertario L. Age of onset in familial adenomatous polyposis: heterogeneity within families and among APC mutations. Ann Hum Genet. 1994 Oct;58(Pt 4):331–342. doi: 10.1111/j.1469-1809.1994.tb00730.x. [DOI] [PubMed] [Google Scholar]
  28. Roest P. A., Roberts R. G., Sugino S., van Ommen G. J., den Dunnen J. T. Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet. 1993 Oct;2(10):1719–1721. doi: 10.1093/hmg/2.10.1719. [DOI] [PubMed] [Google Scholar]
  29. Ruttenberg D., Elliot M. S., Bolding E. Severe colonic dysplasia in a child with familial adenomatous polyposis. Int J Colorectal Dis. 1991 Aug;6(3):169–170. doi: 10.1007/BF00341240. [DOI] [PubMed] [Google Scholar]
  30. Smith-Ravin J., Pack K., Hodgson S., Tay S. K., Phillips R., Bodmer W. APC mutation associated with late onset of familial adenomatous polyposis. J Med Genet. 1994 Nov;31(11):888–890. doi: 10.1136/jmg.31.11.888. [DOI] [PMC free article] [PubMed] [Google Scholar]
  31. Spirio L., Olschwang S., Groden J., Robertson M., Samowitz W., Joslyn G., Gelbert L., Thliveris A., Carlson M., Otterud B. Alleles of the APC gene: an attenuated form of familial polyposis. Cell. 1993 Dec 3;75(5):951–957. doi: 10.1016/0092-8674(93)90538-2. [DOI] [PubMed] [Google Scholar]
  32. van der Luijt R., Khan P. M., Vasen H., van Leeuwen C., Tops C., Roest P., den Dunnen J., Fodde R. Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics. 1994 Mar 1;20(1):1–4. doi: 10.1006/geno.1994.1119. [DOI] [PubMed] [Google Scholar]

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