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Role of SDHAF2 and ...
Role of SDHAF2 and SDHD in von Hippel-Lindau Associated Pheochromocytomas
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- Kugelberg, Johan (författare)
- Linköpings universitet,Institutionen för klinisk och experimentell medicin,Hälsouniversitetet
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- Welander, Jenny (författare)
- Linköpings universitet,Avdelningen för cellbiologi,Hälsouniversitetet
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- Schiavi, Francesca (författare)
- Veneto Institute Oncology IRCCS, Italy
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- Fassina, Ambrogio (författare)
- University of Padua, Italy
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- Backdahl, Martin (författare)
- Karolinska Institutet,Karolinska Institute, Sweden
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- Larsson, Catharina (författare)
- Karolinska Institutet,Karolinska Institute, Sweden
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- Opocher, Giuseppe (författare)
- Veneto Institute Oncology IRCCS, Italy University of Padua, Italy
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- Söderkvist, Peter (författare)
- Östergötlands Läns Landsting,Linköpings universitet,Avdelningen för cellbiologi,Hälsouniversitetet,Klinisk patologi och klinisk genetik
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- Dahia, Patricia L. (författare)
- University of Texas Health Science Centre San Antonio, TX 78229 USA
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- Neumann, Hartmut P. H. (författare)
- University of Freiburg, Germany
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- Gimm, Oliver (författare)
- Östergötlands Läns Landsting,Linköpings universitet,Avdelningen för kliniska vetenskaper,Hälsouniversitetet,Kirurgiska kliniken US
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(creator_code:org_t)
- 2013-12-10
- 2014
- Engelska.
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Ingår i: World Journal of Surgery. - : Springer Verlag (Germany). - 0364-2313 .- 1432-2323. ; 38:3, s. 724-732
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http://liu.diva-port...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Background Pheochromocytomas (PCCs) develop from the adrenal medulla and are often part of a hereditary syndrome such as von Hippel-Lindau (VHL) syndrome. In VHL, only about 30 % of patients with a VHL missense mutation develop PCCs. Thus, additional genetic events leading to formation of such tumors in patients with VHL syndrome are sought. SDHAF2 (previously termed SDH5) and SDHD are both located on chromosome 11q and are required for the function of mitochondrial complex II. While SDHAF2 has been shown to be mutated in patients with paragangliomas (PGLs), SDHD mutations have been found both in patients with PCCs and in patients with PGLs. Materials and methods Because loss of 11q is a common event in VHL-associated PCCs, we aimed to investigate whether SDHAF2 and SDHD are targets. In the present study, 41 VHL-associated PCCs were screened for mutations and loss of heterozygosity (LOH) in SDHAF2 or SDHD. Promoter methylation, as well as mRNA expression of SDHAF2 and SDHD, was studied. In addition, immunohistochemistry (IHC) of SDHB, known to be a universal marker for loss of any part the SDH complex, was conducted. Results and conclusions LOH was found in more than 50 % of the VHL-associated PCCs, and was correlated with a significant decrease (p less than 0.05) in both SDHAF2 and SDHD mRNA expression, which may be suggestive of a pathogenic role. However, while SDHB protein expression as determined by IHC in a small cohort of tumors was lower in PCCs than in the surrounding adrenal cortex, there was no obvious correlation with LOH or the level of SDHAF2/SDHD mRNA expression. In addition, the lack of mutations and promoter methylation in the investigated samples indicates that other events on chromosome 11 might be involved in the development of PCCs in association with VHL syndrome.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Nyckelord
- MEDICINE
- MEDICIN
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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Till lärosätets databas
- Av författaren/redakt...
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Kugelberg, Johan
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Welander, Jenny
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Schiavi, Frances ...
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Fassina, Ambrogi ...
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Backdahl, Martin
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Larsson, Cathari ...
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visa fler...
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Opocher, Giusepp ...
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Söderkvist, Pete ...
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Dahia, Patricia ...
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Neumann, Hartmut ...
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Gimm, Oliver
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
- Artiklar i publikationen
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World Journal of ...
- Av lärosätet
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Linköpings universitet
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Karolinska Institutet