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.
Urbini, M., Astolfi, A., Indio, V., Heinrich, M.C., Corless, C.L., Nannini, M., et al. (2015). SDHC methylation in gastrointestinal stromal tumors (GIST): a case report. BMC MEDICAL GENETICS, 16(1), 4-4 [10.1186/s12881-015-0233-7].
SDHC methylation in gastrointestinal stromal tumors (GIST): a case report
URBINI, MILENA;ASTOLFI, ANNALISA;INDIO, VALENTINA;NANNINI, MARGHERITA;RAVEGNINI, GLORIA;BIASCO, GUIDO;PANTALEO, MARIA ABBONDANZA
2015
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.| File | Dimensione | Formato | |
|---|---|---|---|
|
s12881-015-0233-7.pdf
accesso aperto
Tipo:
Versione (PDF) editoriale
Licenza:
Licenza per Accesso Aperto. Creative Commons Attribuzione (CCBY)
Dimensione
563.59 kB
Formato
Adobe PDF
|
563.59 kB | Adobe PDF | Visualizza/Apri |
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
