Differential diagnosis of lipoma-like lipoblastoma.
Lipoblastomas are rare benign tumors of white fatty tissue that occur primarily in young children. Occasionally, heterogeneity of morphological appearance and histological overlap with other lipogenic tumors are described. In such cases fluorescence in situ hybridization (FISH) analysis of PLAG1, a gene specifically rearranged in lipoblastoma, is necessary to prevent misdiagnosis. We present a case of lipoblastoma arising in an atypical site with histological features characteristic of lipoma. The correct diagnosis was made possible on cytogenetic grounds through the identification of the characteristic PLAG1-HAS2 fusion gene, thus allowing an appropriate clinical approach.
Morerio
Cristina
C
Department of Pediatric Hematology/Oncology, Giannina Gaslini Institute, Genova, Italy.
Nozza
Paolo
P
Tassano
Elisa
E
Rosanda
Cristina
C
Granata
Claudio
C
Conte
Massimo
M
Panarello
Claudio
C
D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000032:analysis / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D014453:Glucuronosyltransferase / Q000032:analysis / Q000235:genetics; D006801:Humans; D000076002:Hyaluronan Synthases; D017404:In Situ Hybridization, Fluorescence; D008067:Lipoma / Q000175:diagnosis*; D018205:Neoplasms, Adipose Tissue / Q000175:diagnosis*; D015514:Oncogene Proteins, Fusion / Q000032:analysis
D004268:DNA-Binding Proteins; D015514:Oncogene Proteins, Fusion; C104382:PLAG1 protein, human; D014453:Glucuronosyltransferase; C101754:HAS2 protein, human; D000076002:Hyaluronan Synthases