PMID- 16133367
OWN - NLM
STAT- MEDLINE
DCOM- 20060420
LR  - 20181113
IS  - 0945-6317 (Print)
IS  - 0945-6317 (Linking)
VI  - 447
IP  - 5
DP  - 2005 Nov
TI  - Molecular cytogenetic characterization of an ins(4;X) occurring as the sole 
      abnormality in an aggressive, poorly differentiated soft tissue sarcoma.
PG  - 869-74
AB  - Cytogenetic and fluorescence in situ hybridization (FISH) analysis of an 
      aggressive undifferentiated soft tissue sarcoma diagnosed as primitive 
      neuroectodermal tumor (PNET) revealed an insertion ins(4;X)(q31-32;p11p22) as the 
      sole aberration. To identify the molecular genetic consequences, contigs of 
      bacterial artificial chromosomes (BACs) covering Xp11-p22 and 4q31-32 were 
      constructed. The breakpoint in Xp22 was considered unlikely to be of pathogenetic 
      significance, as it was very close to the Xp telomere, a region devoid of known 
      or predicted genes. The breakpoint in Xp11 was mapped within a BAC clone 
      containing BCOR, encoding a BCL6 (B-cell lymphoma 6)-interacting protein that may 
      influence apoptosis, as the only known gene. FISH analysis with three overlapping 
      clones on normal chromosomes 4 disclosed that the insertion of Xp11 material in 
      der(4) was accompanied by a deletion of chromosome 4 material. Only a predicted 
      gene (XM_094074) was shown to be partially included in the deletion. This gene 
      displays a high similarity with the gene encoding the embryonic blastocoelar 
      extracellular matrix (ECM) protein in sea urchin, which is involved in the 
      migration of the primary mesenchyme cells during embryogenesis. Our results 
      suggest that BCOR and/or an ECM-like protein could be involved in the 
      pathogenesis of a subgroup of PNET or PNET-like sarcomas.
FAU - Surace, Cecilia
AU  - Surace C
AD  - Department of Clinical Genetics, Lund University Hospital, SE-221 85, Lund, 
      Sweden.
FAU - Storlazzi, Clelia Tiziana
AU  - Storlazzi CT
FAU - Engellau, Jacob
AU  - Engellau J
FAU - Domanski, Henryk A
AU  - Domanski HA
FAU - Gustafson, Pelle
AU  - Gustafson P
FAU - Panagopoulos, Ioannis
AU  - Panagopoulos I
FAU - D'Addabbo, Pietro
AU  - D'Addabbo P
FAU - Rocchi, Mariano
AU  - Rocchi M
FAU - Mandahl, Nils
AU  - Mandahl N
FAU - Mertens, Fredrik
AU  - Mertens F
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20050826
PL  - Germany
TA  - Virchows Arch
JT  - Virchows Archiv : an international journal of pathology
JID - 9423843
SB  - IM
MH  - Adolescent
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 4
MH  - *Chromosomes, Human, X
MH  - Diagnosis, Differential
MH  - Fatal Outcome
MH  - Humans
MH  - In Situ Hybridization
MH  - Male
MH  - Neuroectodermal Tumors, Primitive/diagnosis/genetics
MH  - Sarcoma/diagnosis/*genetics/secondary
MH  - Soft Tissue Neoplasms/diagnosis/*genetics
MH  - *Translocation, Genetic
MH  - Tumor Cells, Cultured
EDAT- 2005/09/01 09:00
MHDA- 2006/04/21 09:00
CRDT- 2005/09/01 09:00
PHST- 2005/03/14 00:00 [received]
PHST- 2005/06/29 00:00 [accepted]
PHST- 2005/09/01 09:00 [pubmed]
PHST- 2006/04/21 09:00 [medline]
PHST- 2005/09/01 09:00 [entrez]
AID - 10.1007/s00428-005-0041-0 [doi]
PST - ppublish
SO  - Virchows Arch. 2005 Nov;447(5):869-74. doi: 10.1007/s00428-005-0041-0. Epub 2005 
      Aug 26.