Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma

Ronald R de Krijger, Sandra M H Claessen, Frieda van der Ham, Ad J M van Unnik, Christina A Hulsbergen-van de Kaa, Leen van Leuven, Max van Noesel, Ernst J M Speel

Research output: Contribution to journalArticlepeer-review

Abstract

Pleuropulmonary blastomas are rare malignant intrathoracic tumors of early childhood. They appear as a pulmonary- and/or pleural-based mass and their pathogenesis and relationship to other pediatric solid tumors is not well understood. In this study, paraffin-embedded material of five cases of pleuropulmonary blastoma was analyzed for genetic alterations by comparative genomic hybridization and five genetic loci by fluorescence in situ hybridization. Comparative genomic hybridization identified aberrations in all pleuropulmonary blastomas, including four amplifications in three tumors at chromosomes 5q33-34, 11q22.2-ter, 15q25-ter, and 19q11-13.2. The most frequent DNA gains involved 8q11-22.2 (four cases) and 20q (two cases), whereas the most common losses included 9p21-24 (two cases) and 11p14 (three cases). Chromosome 8 gains were confirmed by fluorescent in situ hybridization, resulting in the detection of up to five copies of chromosome 8 centromeres per nucleus. In the two surviving patients, chromosome 8 gains were the only genetic abnormality, suggesting that this might be an early event in pleuropulmonary blastoma carcinogenesis. The identification of new genetic alterations as well as the confirmation of previously reported ones (especially 8q gains) in pleuropulmonary blastoma should help to improve our understanding of both the molecular mechanisms underlying the tumorigenesis of pleuropulmonary blastoma and the relationship of pleuropulmonary blastoma with other pediatric tumors.

Original languageEnglish
Pages (from-to)1191-9
Number of pages9
JournalModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
Volume20
Issue number11
DOIs
Publication statusPublished - Sep 2007
Externally publishedYes

Keywords

  • Child, Preschool
  • Chromosome Aberrations
  • Chromosomes, Human, Pair 8/genetics
  • Female
  • Humans
  • Image Processing, Computer-Assisted
  • Immunohistochemistry
  • In Situ Hybridization, Fluorescence
  • Infant
  • Lung Neoplasms/genetics
  • Male
  • Pleural Neoplasms/genetics
  • Pulmonary Blastoma/genetics

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