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Succinate Dehydrogenase-Deficient GISTs
| Content Provider | Scilit |
|---|---|
| Author | Miettinen, Markku Wang, Zeng-Feng Sarlomo-Rikala, Maarit Osuch, Czeslaw Rutkowski, Piotr Lasota, Jerzy |
| Copyright Year | 2011 |
| Description | Journal: The American journal of surgical pathology Most gastrointestinal stromal tumors (GISTs) are driven by KIT or PDGFRA-activating mutations, but a small subset is associated with loss of function of the succinate dehydrogenase (SDH) complex of mitochondrial inner membrane proteins. This occurs by germline mutations of the SDH subunit genes and hitherto unknown mechanisms. SDH-deficient GISTs especially include pediatric GISTs and those associated with Carney triad (CT) or Carney-Stratakis syndromes (CSSs); the latter 2 also include paraganglioma as a component. SDH-deficient GISTs were identified in this study on the basis of immunohistochemical loss of succinate dehydrogenase subunit B (SDHB), which signals functional loss of the SDH complex. We found 66 SDH-deficient GISTs among 756 gastric GISTs, with an estimated frequency of 7.5% of unselected cases. Nearly, all gastric GISTs in patients <20 years, and a substantial percentage of those in patients 50% of cases studied; these 2 were not related to adverse outcome. Seven patients died of disease, but many had long survivals, even with peritoneal or liver metastases. All 378 nongastric GISTs and 34 gastric non-GIST mesenchymal tumors were SDHB positive. SDH-deficient GISTs constitute a small subgroup of gastric GISTs; they usually occur in children and young adults, often have a chronic course similar to that of pediatric and CT GISTs, and have potential association with paraganglioma, necessitating long-term follow-up. |
| Related Links | http://europepmc.org/articles/pmc3193596?pdf=render https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193596/pdf |
| Ending Page | 1721 |
| Page Count | 10 |
| Starting Page | 1712 |
| ISSN | 01475185 |
| e-ISSN | 15320979 |
| DOI | 10.1097/pas.0b013e3182260752 |
| Journal | The American journal of surgical pathology |
| Issue Number | 11 |
| Volume Number | 35 |
| Language | English |
| Publisher | Ovid Technologies (Wolters Kluwer Health) |
| Publisher Date | 2011-11-01 |
| Access Restriction | Open |
| Subject Keyword | Journal: The American journal of surgical pathology Succinate Dehydrogenase Subunit B, Sdhb, Succinate Dehydrogenase, Gastrointestinal Stromal Tumor, Prognosis |
| Content Type | Text |
| Resource Type | Article |
| Subject | Anatomy Surgery Pathology and Forensic Medicine |
