Cytogenetic and molecular cytogenetic findings in lipoblastoma.
Author
Summary, in English
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.
Department/s
Publishing year
2008
Language
English
Pages
60-63
Publication/Series
Cancer Genetics and Cytogenetics
Volume
183
Issue
1
Links
Document type
Journal article
Publisher
Elsevier
Topic
- Cancer and Oncology
- Orthopedics
- Medical Genetics
- Pediatrics
Status
Published
ISBN/ISSN/Other
- ISSN: 0165-4608