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Cytogenetic and molecular cytogenetic findings in lipoblastoma.

Bartuma, Hammurabi LU ; Domanski, Henryk LU ; Vult von Steyern, Fredrik LU ; Kullendorff, Carl-Magnus LU ; Mandahl, Nils LU and Mertens, Fredrik LU (2008) In Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00 183(1). p.60-63
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... (More)
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. (Less)
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organization
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Contribution to journal
publication status
published
subject
in
Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00
volume
183
issue
1
pages
60 - 63
publisher
Elsevier
external identifiers
  • wos:000256183600011
  • pmid:18474299
  • scopus:43049173411
ISSN
0165-4608
DOI
10.1016/j.cancergencyto.2008.01.017
language
English
LU publication?
yes
id
38122af9-f746-472e-b867-707ba4bf5770 (old id 1154267)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/18474299?dopt=Abstract
date added to LUP
2008-06-02 15:39:52
date last changed
2017-08-13 04:39:53
@article{38122af9-f746-472e-b867-707ba4bf5770,
  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.},
  author       = {Bartuma, Hammurabi and Domanski, Henryk and Vult von Steyern, Fredrik and Kullendorff, Carl-Magnus and Mandahl, Nils and Mertens, Fredrik},
  issn         = {0165-4608},
  language     = {eng},
  number       = {1},
  pages        = {60--63},
  publisher    = {Elsevier},
  series       = {Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00},
  title        = {Cytogenetic and molecular cytogenetic findings in lipoblastoma.},
  url          = {http://dx.doi.org/10.1016/j.cancergencyto.2008.01.017},
  volume       = {183},
  year         = {2008},
}