Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Chondroid cystic malformation of the lung with trisomy 8 mosaicism: a new cystic lung malformation.
American Journal of Surgical Pathology
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish. PDF type: Case Reports
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."
Child, Preschool, Chromosomes, Human, Pair 8, Female, Humans, Immunoenzyme Techniques, In Situ Hybridization, Fluorescence, Lung/abnormalities, Lung/surgery, Lung Diseases/genetics, Lung Diseases/metabolism, Mosaicism, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Radiography, Thoracic, Tomography, X-Ray Computed, Treatment Outcome, Trisomy
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