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

Détails

ID Serval
serval:BIB_313B2C38468C
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Chondroid cystic malformation of the lung with trisomy 8 mosaicism: a new cystic lung malformation.
Périodique
American Journal of Surgical Pathology
Auteur(s)
Bouron-Dal Soglio D., Rougemont A.L., De Buys Roessingh A.S., Fetni R., Rypens F., Bouchard S., Montpetit A., Fournet J.C.
ISSN
1532-0979 (Electronic)
ISSN-L
0147-5185
Statut éditorial
Publié
Date de publication
2008
Volume
32
Numéro
7
Pages
1095-1100
Langue
anglais
Notes
Publication types: Case Reports ; Journal ArticlePublication Status: ppublish. PDF type: Case Reports
Résumé
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."
Mots-clé
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
Pubmed
Web of science
Création de la notice
19/03/2012 20:42
Dernière modification de la notice
20/08/2019 13:16
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