Abstract:
:Carney triad (CT) is a rare condition with synchronous or metachronous occurrence of gastrointestinal stromal tumors (GISTs), paragangliomas (PGLs), and pulmonary chondromas in a patient. In contrast to Carney-Stratakis syndrome (CSS) and familial PGL syndromes, no germline or somatic mutations in the succinate dehydrogenase (SDH) complex subunits A, B, C, or D have been found in most tumors and/or patients with CT. Nonetheless, the tumors arising among patients with CT, CSS, or familial PGL share a similar morphology with loss of the SDHB subunit on the protein level. For the current study, we employed massive parallel bisulfite sequencing to evaluate DNA methylation patterns in CpG islands in proximity to the gene loci of all four SDH subunits. For the first time, we report on a recurrent aberrant dense DNA methylation at the gene locus of SDHC in tumors of patients with CT, which was not present in tumors of patients with CSS or PGL, or in sporadic GISTs with KIT mutations. This DNA methylation pattern was correlated to a reduced mRNA expression of SDHC, and concurrent loss of the SDHC subunit on the protein level. Collectively, these data suggest epigenetic inactivation of the SDHC gene locus with functional impairment of the SDH complex as a plausible alternate mechanism of tumorigenesis in CT.
journal_name
Endocr Relat Cancerjournal_title
Endocrine-related cancerauthors
Haller F,Moskalev EA,Faucz FR,Barthelmeß S,Wiemann S,Bieg M,Assie G,Bertherat J,Schaefer IM,Otto C,Rattenberry E,Maher ER,Ströbel P,Werner M,Carney JA,Hartmann A,Stratakis CA,Agaimy Adoi
10.1530/ERC-14-0254subject
Has Abstractpub_date
2014-08-01 00:00:00pages
567-77issue
4eissn
1351-0088issn
1479-6821pii
ERC-14-0254journal_volume
21pub_type
杂志文章abstract::Deprivation of estrogen causes breast tumors in women to adapt and develop enhanced sensitivity to this steroid. Accordingly, women relapsing after treatment with oophorectomy, which substantially lowers estradiol for a prolonged period, respond secondarily to aromatase inhibitors with tumor regression. We have utiliz...
journal_title:Endocrine-related cancer
pub_type: 杂志文章
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journal_title:Endocrine-related cancer
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journal_title:Endocrine-related cancer
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journal_title:Endocrine-related cancer
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journal_title:Endocrine-related cancer
pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Endocrine-related cancer
pub_type: 杂志文章
doi:10.1677/ERC-07-0147
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journal_title:Endocrine-related cancer
pub_type: 杂志文章,评审
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journal_title:Endocrine-related cancer
pub_type: 杂志文章
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journal_title:Endocrine-related cancer
pub_type: 临床试验,杂志文章
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journal_title:Endocrine-related cancer
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