SDHC Methylation Pattern in Patients With Carney Triad
| Autor: | Marta Jezova, Kristyna Behenska, Tomas Vanecek, Marián Švajdler, Iva Babankova, Magdaléna Daumová, Monika Sedivcova, Michal Michal, Leos Kren, Pavel Fabian, Ondrej Daum |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Leiomyosarcoma
Lung Neoplasms Histology Stromal cell Biology Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Stomach Neoplasms medicine Humans In patient Promoter Regions Genetic 030304 developmental biology Paraganglioma Extra-Adrenal 0303 health sciences Mosaicism Stomach Membrane Proteins DNA Neoplasm Methylation DNA Methylation medicine.disease Neoplasm Proteins 3. Good health Epigenetic silencing Carney Triad Medical Laboratory Technology medicine.anatomical_structure 030220 oncology & carcinogenesis DNA methylation Cancer research Chondroma |
| Zdroj: | Applied Immunohistochemistry & Molecular Morphology. 29:599-605 |
| ISSN: | 1541-2016 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|