Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Molecular and Clinical Oncology
Join Editorial Board Propose a Special Issue
Print ISSN: 2049-9450 Online ISSN: 2049-9469
Journal Cover
September-2020 Volume 13 Issue 3

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
September-2020 Volume 13 Issue 3

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Case Report

Sporadic pediatric severe familial adenomatous polyposis: A case report

  • Authors:
    • Andrea Cerasuolo
    • Erasmo Miele
    • Marina Russo
    • Antonietta Aversano
    • Francesca Cammarota
    • Francesca Duraturo
    • Raffaella Liccardo
    • Paola Izzo
    • Marina De Rosa
  • View Affiliations / Copyright

    Affiliations: Molecular Biology and Viral Oncology Unit, Istituto Nazionale Tumori IRCCS ‘Fondazione G. Pascale’, I‑80131 Naples, Italy, Department of Translational Medical Sciences, Section of Pediatrics, University of Naples Federico II, I‑80131 Naples, Italy, Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, I‑80131 Naples, Italy
  • Article Number: 20
    |
    Published online on: July 13, 2020
       https://doi.org/10.3892/mco.2020.2090
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary precancerous condition caused by germline pathogenetic variants in the tumor suppressor adenomatous polyposis coli (APC) gene. Patients with FAP develop multiple gastrointestinal adenomatous polyps usually at the age of ~20 years, which, if untreated, become cancerous in 100% of cases. Genotype‑phenotype associations have been extensively described; however, inter‑ and intra‑familial variability exists. It is crucial to characterize the causative pathogenetic variant in each pedigree in order to develop a cancer prevention program and follow‑up strategy for at‑risk families. The present report describes a severe case of sporadic FAP that was diagnosed when the patient was ~2 years old. The patient was a carrier of the de novo pathogenic c.4132 C>T (p.Gln1378X) variant. Additionally, the patient was a carrier of the homozygous c.5465 T>A (p.Asp1822Val) polymorphism, inherited from both parents. However, it remains unclear whether or not this polymorphism is involved in the phenotypic manifestation. This case highlights the need to extend molecular screening to very young children when they show iron‑deficiency, anaemia and/or rectal bleeding, even in the absence of a familial history of disease.
View Figures

Figure 1

Figure 2

View References

1 

Ferlay J, Soerjomataram I, Dikshit R, Eser S, Mathers C, Rebelo M, Parkin DM, Forman D and Bray F: Cancer incidence and mortality worldwide: Sources, methods and major patterns in GLOBOCAN 2012. Int J Cancer. 136:E359–E386. 2015.PubMed/NCBI View Article : Google Scholar

2 

De Rosa M, Rega D, Costabile V, Duraturo F, Niglio A, Izzo P, Pace U and Delrio P: The biological complexity of colorectal cancer: Insights into biomarkers for early detection and personalized care. Therap Adv Gastroenterol. 9:861–886. 2016.PubMed/NCBI View Article : Google Scholar

3 

Ma H, Brosens LA, Offerhaus GJ, Giardiello FM, de Leng WW and Montgomery EA: Pathology and genetics of hereditary colorectal cancer. Pathology. 50:49–59. 2018.PubMed/NCBI View Article : Google Scholar

4 

Fearnhead NS, Britton MP and Bodmer WF: The ABC of APC. Hum Mol Genet. 10:721–733. 2001.PubMed/NCBI View Article : Google Scholar

5 

De Rosa M, Galatola M, Borriello S, Duraturo F, Masone S and Izzo P: Implication of adenomatous polyposis coli and MUTYH mutations in familial colorectal polyposis. Dis Colon Rectum. 52:268–274. 2009.PubMed/NCBI View Article : Google Scholar

6 

Half E, Bercovich D and Rozen P: Familial adenomatous polyposis. Orphanet J Rare Dis. 4(22)2009.PubMed/NCBI View Article : Google Scholar

7 

Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, Joslyn G, Stevens J, Spirio L, Robertson M, et al: Identification and characterization of the familial adenomatous polyposis coli gene. Cell. 66:589–600. 1991.PubMed/NCBI View Article : Google Scholar

8 

Leoz ML, Carballal S, Moreira L, Ocaña T and Balaguer F: The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management. Appl Clin Genet. 8:95–107. 2015.PubMed/NCBI View Article : Google Scholar

9 

Auricchio R, De Rosa M, Quaglietta L, Miele E, Boccia G, Staiano A and Izzo P: A dramatic case of early-onset familial adenomatous polyposis. Clin Genet. 67:104–106. 2005.PubMed/NCBI View Article : Google Scholar

10 

Aoki K and Taketo MM: Adenomatous polyposis coli (APC): A multi-functional tumor suppressor gene. J Cell Sci. 120:3327–3335. 2007.PubMed/NCBI View Article : Google Scholar

11 

Polakis P: The adenomatous polyposis coli (APC. tumor suppressor. Biochim Biophys Acta. 1332:F127–F147. 1997.PubMed/NCBI View Article : Google Scholar

12 

Dodaro C, Grifasi C, Florio J, Santangelo ML, Duraturo F, De Rosa M, Izzo P and Renda A: The role of mutation analysis of the APC gene in the management of FAP patients. A controversial issue. Ann Ital Chir. 87:321–325. 2016.PubMed/NCBI

13 

Galatola M, Paparo L, Duraturo F, Turano M, Rossi GB, Izzo P and De Rosa M: Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ‘PTEN hamartoma tumor syndrome’. BMC Med Genet. 13(28)2012.PubMed/NCBI View Article : Google Scholar

14 

Nagase H and Nakamura Y: Mutations of the APC (adenomatous polyposis coli) gene. Hum Mutat. 2:425–434. 1993.PubMed/NCBI View Article : Google Scholar

15 

Gayther SA, Wells D, SenGupta SB, Chapman P, Neale K, Tsioupra K and Delhanty JD: 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. 3:53–56. 1994.PubMed/NCBI View Article : Google Scholar

16 

De Rosa M, Scarano MI, Panariello L, Carlomagno N, Rossi GB, Tempesta A, Borgheresi P, Renda A and Izzo P: Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis. Eur J Hum Genet. 7:695–703. 1999.PubMed/NCBI View Article : Google Scholar

17 

Newton KF, Mallinson EK, Bowen J, Lalloo F, Clancy T, Hill J and Evans DG: Genotype-phenotype correlation in colorectal polyposis. Clin Genet. 81:521–531. 2012.PubMed/NCBI View Article : Google Scholar

18 

Fostira F, Thodi G, Sandaltzopoulos R, Fountzilas G and Yannoukakos D: Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients. BMC Cancer. 10(389)2010.PubMed/NCBI View Article : Google Scholar

19 

Liu X, Shan X, Friedl W, Uhlhaas S, Propping P, Li J and Wang Y: May the APC gene somatic mutations in tumor tissues influence the clinical features of Chinese sporadic colorectal cancers? Acta Oncol. 46:757–762. 2007.PubMed/NCBI View Article : Google Scholar

20 

Friedl W and Aretz S: Familial adenomatous polyposis: Experience from a study of 1164 unrelated german polyposis patients. Hered Cancer Clin Pract. 3:95–114. 2005.PubMed/NCBI View Article : Google Scholar

21 

De Rosa M, Scarano MI, Panariello L, Salvatore F and Izzo P: A novel Mbo II polymorphism in exon 15 of the human adenomatous polyposis coli gene. Clin Genet. 53:315–316. 1998.PubMed/NCBI View Article : Google Scholar

22 

Fernández-Rozadilla C, de Castro L, Clofent J, Brea-Fernández A, Bessa X, Abulí A, Andreu M, Jover R, Xicola R, Llor X, et al: Single nucleotide polymorphisms in the Wnt and BMP pathways and colorectal cancer risk in a spanish cohort. PLoS One. 5(e12673)2010.PubMed/NCBI View Article : Google Scholar

23 

Picelli S, Zajac P, Zhou XL, Edler D, Lenander C, Dalén J, Hjern F, Lundqvist N, Lindforss U, Påhlman L, et al: Common variants in human CRC genes as low-risk alleles. Eur J Cancer. 46:1041–1048. 2010.PubMed/NCBI View Article : Google Scholar

24 

Wong HL, Peters U, Hayes RB, Huang WY, Schatzkin A, Bresalier RS, Velie EM and Brody LC: Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk. Eur J Cancer. 46:2457–2466. 2010.PubMed/NCBI View Article : Google Scholar

25 

Septer S, Lawson CE, Anant S and Attard T: Familial adenomatous polyposis in pediatrics: Natural history, emerging surveillance and management protocols, chemopreventive strategies, and areas of ongoing debate. Fam Cancer. 15:477–485. 2016.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Cerasuolo A, Miele E, Russo M, Aversano A, Cammarota F, Duraturo F, Liccardo R, Izzo P and De Rosa M: Sporadic pediatric severe familial adenomatous polyposis: A case report. Mol Clin Oncol 13: 20, 2020.
APA
Cerasuolo, A., Miele, E., Russo, M., Aversano, A., Cammarota, F., Duraturo, F. ... De Rosa, M. (2020). Sporadic pediatric severe familial adenomatous polyposis: A case report. Molecular and Clinical Oncology, 13, 20. https://doi.org/10.3892/mco.2020.2090
MLA
Cerasuolo, A., Miele, E., Russo, M., Aversano, A., Cammarota, F., Duraturo, F., Liccardo, R., Izzo, P., De Rosa, M."Sporadic pediatric severe familial adenomatous polyposis: A case report". Molecular and Clinical Oncology 13.3 (2020): 20.
Chicago
Cerasuolo, A., Miele, E., Russo, M., Aversano, A., Cammarota, F., Duraturo, F., Liccardo, R., Izzo, P., De Rosa, M."Sporadic pediatric severe familial adenomatous polyposis: A case report". Molecular and Clinical Oncology 13, no. 3 (2020): 20. https://doi.org/10.3892/mco.2020.2090
Copy and paste a formatted citation
x
Spandidos Publications style
Cerasuolo A, Miele E, Russo M, Aversano A, Cammarota F, Duraturo F, Liccardo R, Izzo P and De Rosa M: Sporadic pediatric severe familial adenomatous polyposis: A case report. Mol Clin Oncol 13: 20, 2020.
APA
Cerasuolo, A., Miele, E., Russo, M., Aversano, A., Cammarota, F., Duraturo, F. ... De Rosa, M. (2020). Sporadic pediatric severe familial adenomatous polyposis: A case report. Molecular and Clinical Oncology, 13, 20. https://doi.org/10.3892/mco.2020.2090
MLA
Cerasuolo, A., Miele, E., Russo, M., Aversano, A., Cammarota, F., Duraturo, F., Liccardo, R., Izzo, P., De Rosa, M."Sporadic pediatric severe familial adenomatous polyposis: A case report". Molecular and Clinical Oncology 13.3 (2020): 20.
Chicago
Cerasuolo, A., Miele, E., Russo, M., Aversano, A., Cammarota, F., Duraturo, F., Liccardo, R., Izzo, P., De Rosa, M."Sporadic pediatric severe familial adenomatous polyposis: A case report". Molecular and Clinical Oncology 13, no. 3 (2020): 20. https://doi.org/10.3892/mco.2020.2090
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team