Chondroid cystic malformation of the lung with trisomy 8 mosaicism: a new cystic lung malformation.
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."
Bouron-Dal Soglio
Dorothée
D
Department of Pathology, CHU Sainte-Justine, Montréal, Québec, Canada. dorothee.dal_soglio.hsj@ssss.gouv.qc.ca
Rougemont
Anne-Laure
AL
De Buys Roessingh
Anthony S
AS
Fetni
Raouf
R
Rypens
Françoise
F
Bouchard
Sarah
S
Montpetit
Alexandre
A
Fournet
Jean-Christophe
JC
D002675:Child, Preschool; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D007124:Immunoenzyme Techniques; D017404:In Situ Hybridization, Fluorescence; D008168:Lung / Q000002:abnormalities* / Q000601:surgery; D008171:Lung Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D009030:Mosaicism; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D013902:Radiography, Thoracic; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014314:Trisomy