Pediatric Colorectal Cancer: A Heterogenous Entity.
J Pediatr Hematol Oncol
; 42(2): 131-135, 2020 03.
Article
em En
| MEDLINE
| ID: mdl-31205225
ABSTRACT
INTRODUCTION:
Colorectal cancer (CRC) is extremely rare in pediatric age. A poor outcome has been reported.AIMS:
We aimed to characterize a group of pediatric CRC patients. MATERIALS ANDMETHODS:
All patients with CRC below 18 years old registered in our Familial Cancer Risk Clinic (2002-2016) were included. Clinical and histologic features were evaluated. Germline mutations, microsatellite instability, and DNA mismatch repair proteins expression were analyzed.RESULTS:
Five patients were included (3 males; mean age at diagnosis 14.2 years (range, 9 to 17 y) and 4/5 had family history of cancer in second-degree relatives. With a maximum follow-up of 5.6 years, 2/5 patients died after 10 and 24 months, and 1 recurred after 15 months. All tumors were ≥pT3N2 and 3/5 presented signet ring cells/mucinous histology, corresponding to cases with stronger family history of cancer. Nevertheless, all CRCs analyzed (n=4) were microsatellite stable and/or expressed all mismatch repair proteins. Loss of heterozygosity for the 3 Bethesda dinucleotide markers was detected in 1/3 informative CRCs. A likely pathogenic germline MSH2 mutation was identified in only 1 patient.CONCLUSIONS:
Pediatric CRC presented advanced disease and poor prognosis. These tumors had distinct histologic and molecular presentations, resembling features from different carcinogenic pathways, thus suggesting a heterogenous nature.
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Base de dados:
MEDLINE
Assunto principal:
Neoplasias Colorretais
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Mutação em Linhagem Germinativa
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Proteínas de Ligação a DNA
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Instabilidade de Microssatélites
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Reparo de Erro de Pareamento de DNA
Tipo de estudo:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Adolescent
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Child
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article