PMID- 18474299
OWN - NLM
STAT- MEDLINE
DCOM- 20080624
LR  - 20080513
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 183
IP  - 1
DP  - 2008 May
TI  - Cytogenetic and molecular cytogenetic findings in lipoblastoma.
PG  - 60-3
LID - 10.1016/j.cancergencyto.2008.01.017 [doi]
AB  - 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.
FAU - Bartuma, Hammurabi
AU  - Bartuma H
AD  - Department of Clinical Genetics, Lund University Hospital, SE-221 85 Lund, 
      Sweden.
FAU - Domanski, Henryk A
AU  - Domanski HA
FAU - Von Steyern, Fredrik Vult
AU  - Von Steyern FV
FAU - Kullendorff, Carl-Magnus
AU  - Kullendorff CM
FAU - Mandahl, Nils
AU  - Mandahl N
FAU - Mertens, Fredrik
AU  - Mertens F
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (PLAG1 protein, human)
SB  - IM
MH  - Abdominal Wall/pathology
MH  - Buttocks/pathology
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosomes, Human, Pair 1
MH  - Chromosomes, Human, Pair 11
MH  - Chromosomes, Human, Pair 5
MH  - Chromosomes, Human, Pair 8
MH  - DNA-Binding Proteins/genetics
MH  - Female
MH  - Humans
MH  - Infant
MH  - Karyotyping
MH  - Lipoma/*genetics
MH  - Male
MH  - *Molecular Diagnostic Techniques
MH  - Thigh/pathology
MH  - Thoracic Wall/pathology
EDAT- 2008/05/14 09:00
MHDA- 2008/06/25 09:00
CRDT- 2008/05/14 09:00
PHST- 2007/11/16 00:00 [received]
PHST- 2008/01/21 00:00 [revised]
PHST- 2008/01/28 00:00 [accepted]
PHST- 2008/05/14 09:00 [pubmed]
PHST- 2008/06/25 09:00 [medline]
PHST- 2008/05/14 09:00 [entrez]
AID - S0165-4608(08)00093-9 [pii]
AID - 10.1016/j.cancergencyto.2008.01.017 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2008 May;183(1):60-3. doi: 
      10.1016/j.cancergencyto.2008.01.017.