title: Cytogenetic and molecular cytogenetic findings in lipoblastoma.
abstract: Lipoblastoma is a rare benign tumor that arises from embryonic adipose tissue and usually occurs in young children. Here, we present a review of available cytogenetic data and the karyotypes of 10 new cases of lipoblastoma, of which 7 could be studied further by fluorescence in situ hybridization (FISH) with regard to the involvement of the PLAG1 gene. All seven tumors with clonal aberrations harbored breakpoints in 8q11 approximately q13, in agreement with literature data. Including previously published cases, 33/40 (82%) lipoblastomas had rearrangement of the 8q11 approximately q13 region. These rearrangements target the PLAG1 gene, which becomes upregulated through promoter swapping. FISH revealed that five of seven cases in our series had a rearrangement of the PLAG1 gene. Occasionally, there can be difficulties in distinguishing a lipoblastoma from a conventional lipoma or a myxoid liposarcoma. As 8q11 approximately q13 rearrangements have been reported in only 3% of conventional lipomas and never in myxoid liposarcoma, cytogenetic analysis or FISH for the PLAG1 gene can provide useful differential diagnostic information.
authors.affiliation: Department of Clinical Genetics, Lund University Hospital, SE-221 85 Lund, Sweden.
authors.forename: Hammurabi
authors.initials: H
authors.lastname: Bartuma
authors.forename: Henryk A
authors.initials: HA
authors.lastname: Domanski
authors.forename: Fredrik Vult
authors.initials: FV
authors.lastname: Von Steyern
authors.forename: Carl-Magnus
authors.initials: CM
authors.lastname: Kullendorff
authors.forename: Nils
authors.initials: N
authors.lastname: Mandahl
authors.forename: Fredrik
authors.initials: F
authors.lastname: Mertens
mesh_terms: D034861:Abdominal Wall / Q000473:pathology; D002081:Buttocks / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D002895:Chromosomes, Human, Pair 5; D002898:Chromosomes, Human, Pair 8; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008067:Lipoma / Q000235:genetics*; D008297:Male; D025202:Molecular Diagnostic Techniques; D013848:Thigh / Q000473:pathology; D035441:Thoracic Wall / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; C104382:PLAG1 protein, human