Early onset of gastric carcinoma and constitutional deletion of 18p

Claudia Dellavecchia, Andrea Guala, Carla Olivieri, Oscar Haintink, Francesco Cadario, Ombretta Luinetti, Roberto Fiocca, Antonella Minelli, Cesare Danesino, Gianni Bona

Research output: Contribution to journalArticle

Abstract

We report on the association of a gastric carcinoma and a constitutional deletion of the short arm of chromosome 18 in a 14-year-old patient. The phenotype of the patient, including microcephaly, ptosis, micrognathia, tetralogy of Fallot, and mental retardation, fits well with previously reported cases of del(18p); she also showed a positive serology against Helicobacter pylori. The comparison of the alleles of polymorphic loci located on the short arm of chromosome 18 between the patient and her parents showed a maternal origin of the abnormal chromosome. Loss of heterozygosity (LOH) for loci located in the long arm of chromosome 18 is a frequent event in gastric carcinomas; it was observed in the tumoral mass of our patient and again, the alleles lost were of maternal origin. We postulate that the constitutional chromosomal abnormality may have favored the loss of the abnormal chromosome in some cells and that the loss of the deleted chromosome 18 (demonstrated by LOH for this chromosome in the tumoral mass) has been an early step in the pathogenesis of the gastric carcinoma of our patient with Helicobacter pylori infection acting as a cofactor. Copyright (C) 1999 Elsevier Science Inc.

Original languageEnglish
Pages (from-to)96-99
Number of pages4
JournalCancer Genetics and Cytogenetics
Volume113
Issue number1
DOIs
Publication statusPublished - Aug 1999

ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

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