Case ReportsChondroid Cystic Malformation of the Lung With Trisomy 8 Mosaicism: A New Cystic Lung MalformationBouron-Dal Soglio, Dorothée MD* †; Rougemont, Anne-Laure MD* †; De Buys Roessingh, Anthony S. MD‡; Fetni, Raouf PhD*; Rypens, Françoise MD§; Bouchard, Sarah MD‡; Montpetit, Alexandre PhD∥; Fournet, Jean-Christophe MD, PhD* †Author Information Departments of *Pathology ‡Surgery §Radiology, CHU Sainte-Justine †Department of Pathology and Cellular Biology, Université de Montréal ∥Génome Québec Innovative Center, Montréal, Québec, Canada Correspondence: Dorothée Bouron-Dal Soglio, MD, CHU Sainte-Justine, 3175, Chemin de la Côte-Sainte-Catherine, Montréal (Québec), Canada H3T 1C5 (e-mail: [email protected]). The American Journal of Surgical Pathology: July 2008 - Volume 32 - Issue 7 - p 1095-1100 doi: 10.1097/PAS.0b013e3181676fe7 Buy Metrics Abstract 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.” © 2008 Lippincott Williams & Wilkins, Inc.