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

Bouron-Dal Soglio, Dorothee
De Buys Roessingh, Anthony S.
Fetni, Raouf
Rypens, Francoise
Bouchard, Sarah
Montpetit, Alexandre
Fournet, Jean-Christophe
Published in American Journal of Surgical Pathology. 2008, vol. 32, no. 7, p. 1095-1100
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."
Keywords Child, Preschool*Chromosomes, Human, Pair 8FemaleHumansImmunoenzyme TechniquesIn Situ Hybridization, FluorescenceLung/*abnormalities/surgeryLung Diseases/*genetics/metabolism/pathology*MosaicismOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotideRadiography, ThoracicTomography, X-Ray ComputedTreatment Outcome*Trisomy
PMID: 18520437
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BOURON-DAL SOGLIO, Dorothee et al. Chondroid cystic malformation of the lung with trisomy 8 mosaicism: a new cystic lung malformation. In: American Journal of Surgical Pathology, 2008, vol. 32, n° 7, p. 1095-1100. https://archive-ouverte.unige.ch/unige:19034

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Deposited on : 2012-03-27

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