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SDHC methylation in gastrointestinal stromal tumors (GIST): a case report

Overview of attention for article published in BMC Medical Genetics, September 2015
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Title
SDHC methylation in gastrointestinal stromal tumors (GIST): a case report
Published in
BMC Medical Genetics, September 2015
DOI 10.1186/s12881-015-0233-7
Pubmed ID
Authors

Milena Urbini, Annalisa Astolfi, Valentina Indio, Michael C. Heinrich, Christopher L. Corless, Margherita Nannini, Gloria Ravegnini, Guido Biasco, Maria A. Pantaleo

Abstract

Gastrointestinal stromal tumors (GIST) recently have been recognized as a genetically and biologically heterogeneous disease. In addition to KIT or PDGFRA mutated GIST, mutational inactivation of succinate dehydrogenase (SDH) subunits has been detected in the KIT/PDGFRA wild-type subgroup, referred to as SDH deficient (dSDH). Even though most dSDH GIST harbor mutations in SDHx subunit genes, some are SDHx wild type. Epigenetic regulation by DNA methylation of CpG islands recently has been found to be an alternative mechanism underlying the lack of SDH complex in GIST. We report a particular case of dSDH GIST, previously analyzed with microarrays and next-generation sequencing, for which no molecular pathogenetic events have been identified. Gene expression analysis showed remarkable down-modulation of SDHC mRNA with respect to all other GIST samples, both SDHA-mutant and KIT/PDGFRA-mutant GIST. By a bisulfite methylation assay targeted to 2 SDHC CpG islands, we detected hypermethylation of the SDHC promoter. Herein we report an additional case of dSDH GIST without SDHx mutation but harboring hypermethylation in the SDHC promoter, thus confirming the complexity of the molecular background of this subtype of GIST.

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Mendeley readers

The data shown below were compiled from readership statistics for 22 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 22 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 4 18%
Researcher 4 18%
Student > Ph. D. Student 4 18%
Student > Master 2 9%
Professor 1 5%
Other 1 5%
Unknown 6 27%
Readers by discipline Count As %
Medicine and Dentistry 6 27%
Biochemistry, Genetics and Molecular Biology 4 18%
Pharmacology, Toxicology and Pharmaceutical Science 2 9%
Agricultural and Biological Sciences 1 5%
Materials Science 1 5%
Other 0 0%
Unknown 8 36%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 30 September 2015.
All research outputs
#20,293,238
of 22,829,683 outputs
Outputs from BMC Medical Genetics
#842
of 1,029 outputs
Outputs of similar age
#230,210
of 274,283 outputs
Outputs of similar age from BMC Medical Genetics
#29
of 40 outputs
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