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Loss of NF2 defines...
Loss of NF2 defines a genetic subgroup of non-FOS-rearranged osteoblastoma
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- Saba, Karim H. (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Cornmark, Louise (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Hofvander, Jakob (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Magnusson, Linda (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Nilsson, Jenny (author)
- Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- van den Bos, Hilda (author)
- University Medical Center Groningen
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- Spierings, Diana C.J. (author)
- University Medical Center Groningen
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- Foijer, Floris (author)
- University Medical Center Groningen
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- Staaf, Johan (author)
- Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,LUCC: Lund University Cancer Centre,Other Strong Research Environments
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- Brosjö, Otte (author)
- Karolinska University Hospital
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- Sumathi, Vaiyapuri P. (author)
- Royal Orthopaedic Hospital
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- Lam, Suk Wai (author)
- Leiden University Medical Centre
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- Szuhai, Karoly (author)
- Leiden University Medical Centre
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- Bovée, Judith V.M.G. (author)
- Leiden University Medical Centre
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- Kovac, Michal (author)
- University of Basel
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- Baumhoer, Daniel (author)
- University of Basel
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- Styring, Emelie (author)
- Lund University,Lunds universitet,Ortopedi, Lund,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Orthopaedics (Lund),Section III,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital
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- Nord, Karolin H. (author)
- Lund University,Lunds universitet,Komplexa kromosomförändringar i cancer,Forskargrupper vid Lunds universitet,Genetic chaos in aggressive cancer,Lund University Research Groups
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(creator_code:org_t)
- 2020-06-16
- 2020
- English 7 s.
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In: Journal of Pathology: Clinical Research. - : Wiley. - 2056-4538. ; 6:4, s. 231-237
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Abstract
Subject headings
Close
- Osteoblastoma is a locally aggressive tumour of bone. Until recently, its underlying genetic features were largely unknown. During the past two years, reports have demonstrated that acquired structural variations affect the transcription factor FOS in a high proportion of cases. These rearrangements modify the terminal exon of the gene and are believed to stabilise both the FOS transcript and the encoded protein, resulting in high expression levels. Here, we applied in-depth genetic analyses to a series of 29 osteoblastomas, including five classified as epithelioid osteoblastoma. We found recurrent homozygous deletions of the NF2 gene in three of the five epithelioid cases and in one conventional osteoblastoma. These events were mutually exclusive from FOS mutations. Structural variations were determined by deep whole genome sequencing and the number of FOS-rearranged cases was less than previously reported (10/23, 43%). One conventional osteoblastoma displayed a novel mechanism of FOS upregulation; bringing the entire FOS gene under the control of the WNT5A enhancer that is itself activated by FOS. Taken together, we show that NF2 loss characterises a subgroup of osteoblastomas, distinct from FOS-rearranged cases. Both NF2 and FOS are involved in regulating bone homeostasis, thereby providing a mechanistic link to the excessive bone growth of osteoblastoma.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- FOS
- FOSB
- NF2
- osteoblastoma
- osteosarcoma
- WNT5A
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Saba, Karim H.
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Cornmark, Louise
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Hofvander, Jakob
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Magnusson, Linda
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Nilsson, Jenny
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van den Bos, Hil ...
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show more...
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Spierings, Diana ...
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Foijer, Floris
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Staaf, Johan
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Brosjö, Otte
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Sumathi, Vaiyapu ...
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Lam, Suk Wai
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Szuhai, Karoly
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Bovée, Judith V. ...
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Kovac, Michal
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Baumhoer, Daniel
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Styring, Emelie
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Nord, Karolin H.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Journal of Patho ...
- By the university
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Lund University