Chondroid cystic malformation of the lung with trisomy 8 mosaicism: a new cystic lung malformation

Am J Surg Pathol. 2008 Jul;32(7):1095-100. doi: 10.1097/PAS.0b013e3181676fe7.


Neonatal cystic disorders of the lungs are a heterogeneous malformative group including giant lobar hyperinflation, congenital pulmonary airway malformations, intralobar pulmonary sequestration, and bronchogenic cyst. Here, we describe a giant cystic pulmonary malformation in a 5-year-old girl, morphologically characterized by a highly disorganized proliferation of numerous cartilage islands, abundant mesenchymal tissue with abundant adipose differentiation, and epithelium-lined cysts. Cytogenetic analysis revealed an isolated trisomy 8, as the sole karyotype anomaly, a finding further confirmed by a whole-genome single nucleotide polymorphism array genotyping. The trisomy 8 was observed by fluorescent in situ hybridization within the malformation, and also in adjacent pulmonary parenchyma. A search of the literature revealed only 2 cases having similarities with the present case, but bearing different names. We believe that this lesion differs from congenital pulmonary airway malformations and from adult-type pulmonary hamartomas. We propose for this malformative mass the name "chondroid cystic malformation of the lung."

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosomes, Human, Pair 8*
  • Female
  • Humans
  • Immunoenzyme Techniques
  • In Situ Hybridization, Fluorescence
  • Lung / abnormalities*
  • Lung / surgery
  • Lung Diseases / genetics*
  • Lung Diseases / metabolism
  • Lung Diseases / pathology
  • Mosaicism*
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide
  • Radiography, Thoracic
  • Tomography, X-Ray Computed
  • Treatment Outcome
  • Trisomy*