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In-depth genetic an...
In-depth genetic analysis of sclerosing epithelioid fibrosarcoma reveals recurrent genomic alterations and potential treatment targets
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- Arbajian, Elsa (författare)
- Lund University,Lunds universitet,Genetiska avvikelser i mjukdelstumörer,Forskargrupper vid Lunds universitet,The genetics of soft tissue tumors,Lund University Research Groups
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- Puls, Florian (författare)
- Sahlgrenska University Hospital
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- Antonescu, Cristina R (författare)
- Memorial Sloan-Kettering Cancer Center
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- Amary, Fernanda M. (författare)
- Royal National Orthopedic Hospital
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- Sciot, Raf (författare)
- Catholic University of Leuven
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- Debiec-Rychter, Maria (författare)
- Catholic University of Leuven
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- Sumathi, Vaiyapuri (författare)
- Royal Orthopaedic Hospital
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- Järås, Marcus (författare)
- Lund University,Lunds universitet,Målinriktade behandlingar för leukemi,Forskargrupper vid Lunds universitet,Targeted therapies in leukemia,Lund University Research Groups
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- Magnusson, Linda (författare)
- Lund University,Lunds universitet,Genetiska avvikelser i mjukdelstumörer,Forskargrupper vid Lunds universitet,The genetics of soft tissue tumors,Lund University Research Groups,Regional Laboratories Region Skåne
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- Nilsson, Jenny (författare)
- Lund University,Lunds universitet,Genetiska avvikelser i mjukdelstumörer,Forskargrupper vid Lunds universitet,The genetics of soft tissue tumors,Lund University Research Groups
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- Hofvander, Jakob (författare)
- Lund University,Lunds universitet,Genetiska avvikelser i mjukdelstumörer,Forskargrupper vid Lunds universitet,The genetics of soft tissue tumors,Lund University Research Groups
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- Mertens, Fredrik (författare)
- Lund University,Lunds universitet,Genetiska avvikelser i mjukdelstumörer,Forskargrupper vid Lunds universitet,The genetics of soft tissue tumors,Lund University Research Groups
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(creator_code:org_t)
- 2017
- 2017
- Engelska.
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Ingår i: Clinical Cancer Research. - 1078-0432. ; 23:23, s. 7426-7434
- Relaterad länk:
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http://dx.doi.org/10...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- PURPOSE: Sclerosing epithelioid fibrosarcoma (SEF) is a highly aggressive soft tissue sarcoma closely related to low-grade fibromyxoid sarcoma (LGFMS). Some tumors display morphological characteristics of both SEF and LGFMS, so called hybrid SEF/LGFMS. Despite the overlap of gene fusion variants between these two tumor types, SEF is much more aggressive. The present study aimed to further characterize SEF and hybrid SEF/LGFMS genetically in order to better understand the role of the characteristic fusion genes and possible additional genetic alterations in tumorigenesis.EXPERIMENTAL DESIGN: We performed whole exome sequencing, single nucleotide polymorphism (SNP) array analysis, RNA-sequencing (RNA-seq), global gene expression analyses and/or IHC on a series of 13 SEFs and 6 hybrid SEF/LGFMS. We also expressed the FUS-CREB3L2 and EWSR1-CREB3L1 fusion genes conditionally in a fibroblast cell line; these cells were subsequently analyzed by RNA-seq and expression of the CD24 protein was assessed by FACS analysis.RESULTS: The SNP array analysis detected a large number of structural aberrations in SEF and SEF/LGFMS, many of which were recurrent, notably DMD microdeletions. RNA-seq identified FUS-CREM and PAX5-CREB3L1 as alternative fusion genes in one SEF each. CD24 was strongly upregulated, presumably a direct target of the fusion proteins. This was further confirmed by the gene expression analysis and FACS analysis on Tet-On 3G cells expressing EWSR1-CREB3L1.CONCLUSIONS: While gene fusions are the primary tumorigenic events in both SEF and LGFMS, additional genomic changes explain the differences in aggressiveness and clinical outcome between the two types. CD24 and DMD constitute potential therapeutic targets.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
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- Journal Article
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- Av författaren/redakt...
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Arbajian, Elsa
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Puls, Florian
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Antonescu, Crist ...
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Amary, Fernanda ...
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Sciot, Raf
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Debiec-Rychter, ...
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visa fler...
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Sumathi, Vaiyapu ...
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Järås, Marcus
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Magnusson, Linda
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Nilsson, Jenny
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Hofvander, Jakob
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Mertens, Fredrik
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visa färre...
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- MEDICIN OCH HÄLSOVETENSKAP
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Lunds universitet