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Fusion of the FUS and CREB3L2 genes in a supernumerary ring chromosome in low-grade fibromyxoid sarcoma.

Bartuma, Hammurabi LU ; Möller, Emely LU ; Collin, Anna LU ; Domanski, Henryk LU ; Vult von Steyern, Fredrik LU ; Mandahl, Nils LU and Mertens, Fredrik LU (2010) In Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00 199(2). p.143-146
Abstract
Low-grade fibromyxoid sarcoma (LGFMS) is a rare, low-grade malignant soft tissue tumor that is often mistaken for either benign or more malignant tumor types. Commonly, this tumor affects young adults and typically arises in the deep proximal extremities or trunk with frequent recurrences and can metastasize to the lungs many years later. Most cases have a recurrent balanced translocation involving chromosomes 7 and 16, t(7;16)(q32-34;p11), which leads to the fusion of the FUS and CREB3L2 genes. However, supernumerary ring chromosomes have been identified in a subset of FUS/CREB3L2-positive LGFMS, but it has not yet been formally demonstrated that such ring chromosomes harbor the FUS/CREB3L2 fusion gene. Here, we report the genetic... (More)
Low-grade fibromyxoid sarcoma (LGFMS) is a rare, low-grade malignant soft tissue tumor that is often mistaken for either benign or more malignant tumor types. Commonly, this tumor affects young adults and typically arises in the deep proximal extremities or trunk with frequent recurrences and can metastasize to the lungs many years later. Most cases have a recurrent balanced translocation involving chromosomes 7 and 16, t(7;16)(q32-34;p11), which leads to the fusion of the FUS and CREB3L2 genes. However, supernumerary ring chromosomes have been identified in a subset of FUS/CREB3L2-positive LGFMS, but it has not yet been formally demonstrated that such ring chromosomes harbor the FUS/CREB3L2 fusion gene. Here, we report the genetic findings of a supernumerary ring chromosome from an LGFMS from a 77-year-old man. Chromosome banding analysis revealed a supernumerary ring chromosome, and further studies with fluorescence in situ hybridization and reverse transcriptase-polymerase chain reaction (RT-PCR) showed that the ring contained material from chromosomes 7 and 16, that the FUS gene was present in two rearranged copies, and that it expressed the FUS/CREB3L2 fusion gene. Moreover, an assessment of previously reported cases showed that tumors with ring chromosomes relapsed more often than tumors with a balanced t(7;16), suggesting that ring formation in LGFMS is correlated with tumor progression. (Less)
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published
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in
Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00
volume
199
issue
2
pages
143 - 146
publisher
Elsevier
external identifiers
  • WOS:000278156100012
  • PMID:20471519
  • Scopus:77952769508
ISSN
0165-4608
DOI
10.1016/j.cancergencyto.2010.02.011
language
English
LU publication?
yes
id
4218b693-ccb1-496b-a269-9271128beb00 (old id 1610205)
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http://www.ncbi.nlm.nih.gov/pubmed/20471519?dopt=Abstract
date added to LUP
2010-06-02 10:39:58
date last changed
2017-01-01 07:48:15
@article{4218b693-ccb1-496b-a269-9271128beb00,
  abstract     = {Low-grade fibromyxoid sarcoma (LGFMS) is a rare, low-grade malignant soft tissue tumor that is often mistaken for either benign or more malignant tumor types. Commonly, this tumor affects young adults and typically arises in the deep proximal extremities or trunk with frequent recurrences and can metastasize to the lungs many years later. Most cases have a recurrent balanced translocation involving chromosomes 7 and 16, t(7;16)(q32-34;p11), which leads to the fusion of the FUS and CREB3L2 genes. However, supernumerary ring chromosomes have been identified in a subset of FUS/CREB3L2-positive LGFMS, but it has not yet been formally demonstrated that such ring chromosomes harbor the FUS/CREB3L2 fusion gene. Here, we report the genetic findings of a supernumerary ring chromosome from an LGFMS from a 77-year-old man. Chromosome banding analysis revealed a supernumerary ring chromosome, and further studies with fluorescence in situ hybridization and reverse transcriptase-polymerase chain reaction (RT-PCR) showed that the ring contained material from chromosomes 7 and 16, that the FUS gene was present in two rearranged copies, and that it expressed the FUS/CREB3L2 fusion gene. Moreover, an assessment of previously reported cases showed that tumors with ring chromosomes relapsed more often than tumors with a balanced t(7;16), suggesting that ring formation in LGFMS is correlated with tumor progression.},
  author       = {Bartuma, Hammurabi and Möller, Emely and Collin, Anna and Domanski, Henryk and Vult von Steyern, Fredrik and Mandahl, Nils and Mertens, Fredrik},
  issn         = {0165-4608},
  language     = {eng},
  number       = {2},
  pages        = {143--146},
  publisher    = {Elsevier},
  series       = {Cancer Genetics and Cytogenetics1979-01-01+01:002011-01-01+01:00},
  title        = {Fusion of the FUS and CREB3L2 genes in a supernumerary ring chromosome in low-grade fibromyxoid sarcoma.},
  url          = {http://dx.doi.org/10.1016/j.cancergencyto.2010.02.011},
  volume       = {199},
  year         = {2010},
}