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Diagnostic utility of molecular and cytogenetic analysis in lipoblastoma: a study of two cases and review of the literature
Author(s) -
Choi Jungah,
Bouron Dal Soglio Dorothée,
Fortier Amanda,
Fetni Raouf,
Mathonnet Géraldine,
Cournoyer Sonia,
Lallier Michel,
Isler Marc,
Beaulieu Bergeron Mélanie,
Patey Natalie
Publication year - 2014
Publication title -
histopathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.626
H-Index - 124
eISSN - 1365-2559
pISSN - 0309-0167
DOI - 10.1111/his.12317
Subject(s) - lipoblastoma , biology , fluorescence in situ hybridization , pathology , carcinogenesis , cytogenetics , in situ hybridization , comparative genomic hybridization , chromosome , lipoma , genetics , gene , gene expression , medicine
Aims Lipoblastoma is a benign neoplasm of embryonic white fat tissue that results from the proliferation of primitive adipocytes, in which histological features can be ambiguous. In order to discriminate between lipoblastoma and other lipogenic and lipomatous tumours, we studied chromosomal alterations and protein expression in two cases of lipoblastoma in infants. Methods and results Standard cytogenetic analysis, fluorescence in‐situ hybridization, array comparative genomic hybridization and Western blotting allowed us to demonstrate the presence of chromosome abnormalities involving the 8q11–13 region containing the pleomorphic adenoma gene 1 ( PLAG 1 ), which are classically reported in lipoblastoma, and aberrant expression of PLAG 1. Conclusions This report illustrates two different tumorigenic pathways implicating PLAG 1 in lipoblastoma: amplification through multiple copies of a small marker chromosome derived from chromosome 8, and a paracentric inversion of the long arm of chromosome 8. Both these anomalies induced aberrant expression of PLAG 1, emphasizing the role of PLAG 1 in tumorigenesis. The aberrant expression of PLAG 1 protein has been hypothesized, but this is the first report to demonstrate its occurrence in lipoblastoma.