SDHC Methylation Pattern in Patients With Carney Triad
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00669806%3A_____%2F21%3A10433155" target="_blank" >RIV/00669806:_____/21:10433155 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11140/21:10433155 RIV/65269705:_____/21:00075840 RIV/00209805:_____/21:00078572 RIV/00216224:14110/21:00124184
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=D7pO7AHwE" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=D7pO7AHwE</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1097/PAI.0000000000000920" target="_blank" >10.1097/PAI.0000000000000920</a>
Alternative languages
Result language
angličtina
Original language name
SDHC Methylation Pattern in Patients With Carney Triad
Original language description
Carney triad is a multitumor syndrome affecting almost exclusively young women in a nonfamilial setting, which manifests by multifocal gastric gastrointestinal stromal tumors, paragangliomas, and pulmonary chondroma. The Carney triad-associated tumors are characterized by a deficiency of the mitochondrial succinate dehydrogenase enzymatic complex. Recently, it has been observed that the deficiency results from epigenetic silencing of the SDHC gene by its promoter hypermethylation. To elucidate anatomic distribution of SDHC promoter methylation in Carney triad patients and thus to shed some light on the possible natural development of this epigenetic change, both neoplastic and available non-neoplastic tissues of 3 patients with Carney triad were tested for hypermethylation at the SDHC promoter site. SDHC promoter hypermethylation was proven in all tumors studied. Lack of SDHC epigenetic silencing in the non-neoplastic lymphoid and duodenal tissue (ie, tissues not involved in the development of Carney triad-associated tumors) together with the finding of SDHC promoter hypermethylation in the non-neoplastic gastric wall favors the hypothesis of postzygotic somatic mosaicism as the biological background of Carney triad; it also offers an explanation of the multifocality of gastrointestinal stromal tumors of the stomach occurring in this scenario as well. However, the precise mechanism responsible for the peculiar organ-specific distribution of Carney triad-associated tumors is still unknown.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30109 - Pathology
Result continuities
Project
—
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Applied Immunohistochemistry & Molecular Morphology
ISSN
1541-2016
e-ISSN
—
Volume of the periodical
29
Issue of the periodical within the volume
8
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
599-605
UT code for WoS article
000696558400009
EID of the result in the Scopus database
2-s2.0-85105159535