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
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  • Published online on: July 13, 2020     https://doi.org/10.3892/mco.2020.2090
  • Article Number: 20
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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.
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September-2020
Volume 13 Issue 3

Print ISSN: 2049-9450
Online ISSN:2049-9469

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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