Translocation t(7;12) as the sole chromosomal abnormality resulting in ACTB-GLI1 fusion in pediatric gastric pericytoma

Hum Pathol. 2016 Jul:53:137-41. doi: 10.1016/j.humpath.2016.02.015. Epub 2016 Mar 10.

Abstract

We hereby report an unusual gastric tumor arising from the pyloric wall of the stomach in a 9-year-old child harboring the exceptionally rare translocation t(7;12) resulting in ACTB-GLI1 gene fusion. This tumor has been previously classified as pericytoma with t(7;12) and described in 6 patients, 2 of them children. We discuss the challenges in recognizing this rare entity and the importance of the molecular studies in establishing the correct diagnosis. Our case is the first report of this type arising in the stomach of a child.

Keywords: Gastric; Pediatric; Pericytoma; Rare; Translocation; Tumor.

Publication types

  • Case Reports

MeSH terms

  • Actins / genetics*
  • Biomarkers, Tumor / analysis
  • Biomarkers, Tumor / genetics*
  • Child
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 7*
  • Female
  • Gene Fusion*
  • Genetic Predisposition to Disease
  • Humans
  • Immunohistochemistry
  • Karyotyping
  • Phenotype
  • Stomach Neoplasms / chemistry
  • Stomach Neoplasms / genetics*
  • Stomach Neoplasms / pathology
  • Stomach Neoplasms / surgery
  • Translocation, Genetic*
  • Zinc Finger Protein GLI1 / genetics*

Substances

  • Actins
  • Biomarkers, Tumor
  • GLI1 protein, human
  • Zinc Finger Protein GLI1