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Fusion of the EWSR1...
Fusion of the EWSR1 and ATF1 genes without expression of the MITF-M transcript in angiomatoid fibrous histiocytoma
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- Hallor, Karolin Hansén (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden
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- Mertens, Fredrik (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden
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- Jin, Yuesheng (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden
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- Meis-Kindblom, Jeanne M (författare)
- Department of Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Kindblom, Lars-Gunnar (författare)
- Department of Pathology, Sahlgrenska University Hospital, Gothenburg, Sweden
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- Behrendtz, Mikael (författare)
- Department of Pediatrics, University Hospital, Linköping, Sweden
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- Kalén, Anders (författare)
- Östergötlands Läns Landsting,Linköpings universitet,Hälsouniversitetet,Ortopedi och idrottsmedicin,Ortopedkliniken Linköping
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- Mandahl, Nils (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden
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- Panagopoulos, Ioannis (författare)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Department of Clinical Genetics, University Hospital, SE-221 85 Lund, Sweden
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(creator_code:org_t)
- 2005
- 2005
- Engelska 6 s.
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Ingår i: Genes, Chromosomes and Cancer. - : Wiley. - 1045-2257 .- 1098-2264. ; 44:1, s. 97-102
- 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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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that usually occurs in children and young adults. Only two cases of AFH with genetic rearrangements have been reported previously; both of these had a FUS-ATF1 fusion gene. We have studied an AFH from a 9-year-old boy whose tumor displayed a t(12;22)(q13;q12) as the sole cytogenetic aberration. FISH,RT-PCR, and sequence analyses revealed an EWSR1-ATF1 fusion gene that has previously been reported in clear cell sarcoma (CCS), a soft tissue sarcoma that is morphologically and clinically distinct from AFH. This study thus has demonstrated that the EWSR1-ATF1 chimera represents a fusion gene that can be associated with different tumor types. Simultaneous expression of the EWSR1-ATF1 and MITF-M transcripts in CCS has led to the proposal that the MITF-M promoter is transactivated by EWSR1-ATF1. The AFH, however, did not express the MITF-M transcript, supporting the theory that MITF-M expression in CCS is a reflection of its cellular origin, rather than a consequence of the presence of an EWSR1-ATF1 fusion protein. Activation of the EWSR1-ATF1 oncogene is probably an early step in the transformation process, but the overall gene expression patterns are likely to vary considerably between AFH and CCS, in keeping with their clinicopathologic differences.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- Activating Transcription Factor 1
- Adenocarcinoma, Clear Cell
- Artificial Gene Fusion
- Base Sequence
- Calmodulin-Binding Proteins
- Child
- Chromosomes, Human, Pair 12
- Chromosomes, Human, Pair 22
- DNA Primers
- DNA-Binding Proteins
- Histiocytoma, Benign Fibrous
- Humans
- Karyotyping
- Male
- Microphthalmia-Associated Transcription Factor
- Nuclear Proteins
- RNA-Binding Proteins
- Sequence Deletion
- Transcription Factors
- Transcription, Genetic
- Translocation, Genetic
- Case Reports
- Journal Article
- Research Support, Non-U.S. Gov't
- MEDICINE
Publikations- och innehållstyp
- art (ämneskategori)
- ref (ämneskategori)
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Hallor, Karolin ...
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Mertens, Fredrik
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Jin, Yuesheng
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Meis-Kindblom, J ...
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Kindblom, Lars-G ...
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Behrendtz, Mikae ...
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Kalén, Anders
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Mandahl, Nils
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Panagopoulos, Io ...
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Lunds universitet
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