SDH-deficient gastrointestinal stromal tumours
نویسندگان
چکیده
Gastrointestinal stromal tumours (GIST) comprise a heterogeneous group of the most common mesenchymal neoplasms gastrointestinal tract. The majority GIST are induced by activating, mutually exclusive mutations two genes – KIT and PDGFRA (platelet-derived growth factor receptor-alpha). However, approximately 10–15% GISTs lack oncogenic or these often called “wild type” (WT) GISTs. SDH-deficient form distinctive subset accounting for 20–40% KIT/PDGFRA WT GIST, which results from loss function in encoding SDH enzyme complex. true frequency was reported to be 7.4 7.7%. These usually occur stomach (most commonly antrum) have spectrum behaviour indolent progressive. In cases molecular mechanism behind is connected germline mutations. SDHA 30% those SDHB , SDHC SDHD appear 20–30% patients. SDH-mutated do not respond well used targeted therapy, with no objective tumour response imatinib. Taking into account biological features new therapies potential interest PI3K/AKT/mTOR inhibitors, heat-shock protein HIF1-α targeting agents, epigenetic modifiers demethylating agents. further research necessary fields.
منابع مشابه
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ژورنال
عنوان ژورنال: Nowotwory
سال: 2022
ISSN: ['0029-540X', '2300-2115']
DOI: https://doi.org/10.5603/njo.2022.0052