Genetic Counselor Practices Involving Pediatric Patients with FAP: an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening

Abstract

Familial adenomatous polyposis (FAP) is a cancer predisposition syndrome that causes early-onset polyposis and is associated with an increased risk for hepatoblastoma. There is currently a lack of consensus on when to order APC (adenomatous polyposis coli) gene testing or implement surveillance for hepatoblastoma. An online questionnaire was completed by 62 genetic counselors to capture their current practices regarding these questions. Extracolonic findings associated with FAP that were most likely to prompt APC testing in an otherwise asymptomatic 10 year-old child with a negative family history were multiple desmoid tumors, congenital hypertrophy of the retinal pigment epithelium (CHRPE), jaw osteomas, and hepatoblastoma. For hepatoblastoma screening, the majority did recommend this in children less than age five years with known APC mutations. An interval of every 3–6 months was most commonly suggested; however, responses extended to screening on a less than annual basis. These results highlight the need for further investigation into why some genetic counselors do not recommend APC testing in young at-risk children and what factors influence views about the ideal age and indication for APC testing. Studies of these issues would help to define the best clinical practice model for genetic testing and hepatoblastoma screening in pediatric patients with FAP.

This is a preview of subscription content, access via your institution.

Fig. 1
Fig. 2

References

  1. Aretz, S., Koch, A., Uhlhaas, S., Friedl, W., Propping, P., von Schweinitz, D., & Pietsch, T. (2006). Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations? Pediatric Blood & Cancer, 47(6), 811–818.

    Article  Google Scholar 

  2. Baglioni, S., Melean, G., Gensini, F., Santucci, M., Scatizzi, M., Papi, L., & Genuardi, M. (2005). A kindred with MYH-associated polyposis and pilomatricomas. American Journal of Medical Genetics A, 15;134 A(2), 212–214.

    Article  Google Scholar 

  3. Bertario, L., Russo, A., Sala, P., Eboli, M., Giarola, M., D’amico, F., et al. (2001). Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. International Journal of Cancer, 95(2), 102–107.

    CAS  Article  PubMed  Google Scholar 

  4. Bisgaard, M. L., Fenger, K., Bulow, S., Niebuhr, E., & Mohr, J. (1994). Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Human Mutation, 3, 121–125.

    CAS  Article  PubMed  Google Scholar 

  5. Caga-anan, E. C., Smith, L., Sharp, R. R., & Lantos, J. D. (2012). Testing children for adult-onset genetic diseases. Pediatrics, 129(1), 163–167.

    Article  PubMed  Google Scholar 

  6. Choyke, P. L., Siegel, M. J., Craft, A. W., Green, D. M., & DeBaun, M. R. (1999). Screening for Wilms tumor in children with Beckwith–Wiedemann syndrome or idiopathic hemihypertrophy. Medical and Pediatric Oncology, 32(3), 196–200.

    CAS  Article  PubMed  Google Scholar 

  7. Clericuzio, C. L., Chen, E., McNeil, D. E., O’Connor, T., Zackai, E. H., Medne, L., et al. (2003). Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith–Wiedemann syndrome or isolated hemihyperplasia. The Journal of Pediatrics, 143, 270–272.

    Article  PubMed  Google Scholar 

  8. Codori, A. M., Petersen, G. M., Miglioretti, D. L., Larkin, E. K., Bushey, M. T., Young, C., Brensinger, J. D., et al. (1999). Attitudes toward colon cancer gene testing: factors predicting test uptake. Cancer Epidemiology Biomarkers and Prevention, 8(4 Pt 2), 345–351.

    CAS  Google Scholar 

  9. Di Cataldo, A., Haupt, R., Fabietti, P., & Schilirò, G. (1996). Is intensive follow-up for early detection of tumors effective in children with Beckwith–Wiedemann syndrome? Clinical Genetics, 50(5), 372–374.

    CAS  Article  PubMed  Google Scholar 

  10. Friedl, W., Caspari, R., Sengteller, M., Uhlhaas, S., Lamberti, C., Jungck, M., Kadmon, M., et al. (2001). Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut, 48, 515–521.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  11. Giardiello, F. M., Offerhaus, G. J., Krush, A. J., Booker, S. V., Tersmette, A. C., Mulder, J. W., et al. (1991). Risk of hepatoblastoma in familial adenomatous polyposis. The Journal of Pediatrics, 119, 766–768.

    CAS  Article  PubMed  Google Scholar 

  12. Harvey, J. J., Clark, S. K., Hyer, W., Hadzic, N., Tomlinson, I. P. M., Hinds, R. (2008). Germline APC mutations are not commonly seen in children with sporadic hepatoblastoma. Journal of Pediatric Gastroenterology and Nutrition, 47(5), 675–677.

  13. Heiskanen, I., & Jarvinen, H. J. (1996). Occurrence of desmoid tumours in familial adenomatous polyposis and results of treatment. International Journal of Colorectal Disease, 11, 157–162.

    CAS  Article  PubMed  Google Scholar 

  14. Hughes, L. J., & Michels, V. V. (1992). Risk of hepatoblastoma in familial adenomatous polyposis. American Journal of Medical Genetics, 43, 1023–1025.

    CAS  Article  PubMed  Google Scholar 

  15. Kessler, S. (1997). Psychological aspects of genetic counseling. IX. Teaching and counseling. Journal of Genetic Counseling, 6(3), 287–295.

    CAS  Article  PubMed  Google Scholar 

  16. Levine, F. R., Coxworth, J. E., Stevenson, D. A., Tuohy, T., Burt, R. W., & Kinney, A. Y. (2010). Parental attitudes, beliefs, and perceptions about genetic testing for FAP and colorectal cancer surveillance in minors. Journal of Genetic Counseling, 19(3), 269–279.

    Article  PubMed  PubMed Central  Google Scholar 

  17. Lynch, P. M. (2013). When and how to perform genetic testing for inherited colorectal cancer syndromes. Journal of the National Comprehensive Cancer Network, 11, 1577–1583.

    Article  PubMed  Google Scholar 

  18. Moore, S. W., Tshifularo, N., & Grobbelaar, J. J. (2012). Lessons from the hepatoblastoma-familial polyposis connection. South African Medical Journal, 102(11 Pt 2), 888–889.

    CAS  Article  PubMed  Google Scholar 

  19. National Comprehensive Cancer Network Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Colorectal .(2015) Version 2. NCCN.org.

  20. Nieuwenhuis MH, De Vos Tot Nederveen Cappel W, BotmauA, Nagengast FM, Kleibeuker JH, Mathus-Vliegen EM et al (2008). Desmoid tumors in a Dutch cohort of patients with familial adenomatous polyposis. Clinical Gastroenterology and Hepatology, 6(2), 215–219.

    Article  Google Scholar 

  21. Plail, R. O., Bussey, H. J., Glazer, G., & Thomson, J. P. (1987). Adenomatous polyposis an association with carcinoma of the thyroid. The British Journal of Surgery, 74(5), 377–380.

    CAS  Article  PubMed  Google Scholar 

  22. Resta, R., Biesecker, B. B., Bennett, R. L., Blum, S., Hahn, S. E., Strecker, M. N., & Williams, J. L. (2006). A new definition of genetic counseling: National Society of genetic counselors’ task force report. J Genet Counseling., 15(2), 77–83.

    Article  Google Scholar 

  23. Sanders, R. P., & Furman, W. L. (2006). Familial adenomatous polyposis in two brothers with hepatoblastoma: implications for diagnosis and screening. Pediatric Blood & Cancer, 47(6), 851–854.

    Article  Google Scholar 

  24. Septer, S., Slowik, V., Morgan, R., Dai, H., & Attard, T. (2013). Thyroid cancer complicating familial adenomatous polyposis: mutation spectrum of at-risk individuals. Hereditary Cancer in Clinical Practice, 5;11(1), 13.

    Article  Google Scholar 

  25. Shields, J. A., Shields, C. L., Pankajkumar, G. S., Pastore, D. J., & Imperiale, S. M. (1992). Lack of association among typical congenital hypertrophy of the retinal pigment epithelium, adenomatous polyposis, and Gardner syndrome. Ophthalmology, 99(11), 1709–1713.

    CAS  Article  PubMed  Google Scholar 

  26. Sinha, A., Tekkis, P. P., Gibbons, D. C., Phillips, R. K., & Clark, S. K. (2011). Risk factors predicting desmoid occurrence in patients with familial adenomatous polyposis: a meta-analysis. Colorectal Disease, 13, 1222–1229.

    CAS  Article  PubMed  Google Scholar 

  27. Thomas, D., Pritchard, J., Davidson, R., McKiernan, P., Grundy, R. G., & de Goyet J, d. V. (2003). Familial hepatoblastoma and APC gene mutations: renewed call for molecular research. European Journal of Cancer, 39(15), 2200–2204.

    CAS  Article  PubMed  Google Scholar 

  28. Tiret, A., Taiel-Sartral, M., Tiret, E., & Laroche, L. (1997). Diagnostic value of fundus examination in familial adenomatous polyposis. The British Journal of Ophthalmology, 81(9), 755–758.

    CAS  Article  PubMed  PubMed Central  Google Scholar 

  29. Traboulsi, E. I., Drush, A. J., Gardner, E. J., Booker, S. V., Offerhaus, G. J. A., Yardley, J. H., et al. (1987). Prevalence and importance of pigmented ocular fundus lesions in Gardner’s syndrome. The New England Journal of Medicine, 316, 661–667.

    CAS  Article  PubMed  Google Scholar 

  30. Vasen, H. F., Möslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L., et al. (2008). Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut, 57(5), 704–713.

    CAS  Article  PubMed  Google Scholar 

Download references

Author information

Affiliations

Authors

Corresponding author

Correspondence to Caitlin E. Lawson.

Ethics declarations

Conflict of Interest

The authors declare that they have no conflict of interest.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

This article does not contain any studies with animals performed by any of the authors.

Electronic supplementary material

ESM 1

(DOCX 209 kb)

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Lawson, C.E., Attard, T.M., Dai, H. et al. Genetic Counselor Practices Involving Pediatric Patients with FAP: an Investigation of their Self-Reported Strategies for Genetic Testing and Hepatoblastoma Screening. J Genet Counsel 26, 586–593 (2017). https://doi.org/10.1007/s10897-016-0030-2

Download citation

Keywords

  • FAP
  • Hepatoblastoma
  • Colon cancer
  • Pediatric genetic counseling