Pleuropulmonary blastoma: Cytogenetic and spectral karyotype analysis

Janis M Taube, Constance A. Griffin, Raluca Yonescu, Laura Morsberger, Pedram Argani, Frederic B Askin, Denise Batista

Research output: Contribution to journalArticle

Abstract

Pleuropulmonary blastoma (PPB) is a rare neoplasm of the pleuropulmonary mesenchyme. The molecular mechanisms underlying the genesis of this tumor are of particular interest as a large number of affected patients as well as their relatives have concurrent disease including additional dysplasia or neoplasia. To date, detailed karyotypes have been published on a limited number of cases. We report clinical, pathologic, and cytogenetic data in 2 cases of PPB including spectral karyotyping in 1 of them. Additionally, we conducted a review of the literature and compiled 15 published karyotypes of this tumor. Gain of chromosome 8 material was a highly prevalent finding in PPB, most times occurring as trisomy, but tetrasomy of the long arm was also frequent. Other occurring abnormalities, in order of observed frequency, included loss of 17p, loss of chromosome 10 or 10q, rearrangement of 11p, loss of chromosome X or Xp, gain of chromosomes/arms 1q, 2, and 7q, and loss of 6q and 18p. Loss of 10q has not been previously emphasized in PPB. The significance of these chromosome findings is discussed in relation to tumorigenesis.

Original languageEnglish (US)
Pages (from-to)453-461
Number of pages9
JournalPediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Volume9
Issue number6
DOIs
StatePublished - Nov 2006

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Keywords

  • Histology
  • Karyotype
  • Pleuropulmonary blastoma
  • SKY analysis
  • Spectral karyotyping
  • Trisomy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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