Open AccessSDH-deficient gastrointestinal stromal tumors: paradoxical effect of imatinib
Author(s) -
Д. А. Филоненко,
Филоненко Дарья Александровна,
Andrey Meshcheryakov,
Мещеряков Андрей Альбертович,
П. П. Архири,
Архири Петр Петрович,
М П Никулин,
Никулин Максим Петрович,
Е. С. Колобанова,
Колобанова Евгения Сергеевна
Publication year - 2020
Publication title -
sovremennaâ onkologiâ
Language(s) - English
Resource type - Journals
eISSN - 1815-1442
pISSN - 1815-1434
DOI - 10.26442/18151434.2020.2.200053
Subject(s) - gist , sdhb , pdgfra , sdhd , medicine , imatinib , cancer research , stromal tumor , paraganglioma , sdha , pathology , oncology , stromal cell , germline mutation , succinate dehydrogenase , biology , mutation , biochemistry , myeloid leukemia , gene , enzyme
Succinate dehydrogenase deficient gastrointestinal stromal tumors (dSDH GIST) is a unique group of GISTs with an energy metabolism defect as the key oncogenic mechanism without mutations in the proto-oncogene receptor tyrosine kinase (KIT) and platelet-derived growth factor receptor a (PDGFRA). SDH-deficiency is a result of mutations in SDHA, SDHB, SDHC, SDHD. There are three variants of dSDH GIST: sporadic dSDH GIST, Carney triad or Carney-Stratakis syndrome. dSDH GISTs are characterized by young age, female prevalence, gastric location, multiple tumors, lymph node metastases, indolent behavior and poorly response to imatinib. Despite the literature data, we report the response to imatinib in patient with dSDH GIST. 21 year old female patient presented with incomplete Carney triad (multiply gastric GIST with liver and peritoneal metastases, left lung chondroma). The patient received imatinib with clinical response in a month and radiological response in three months-cystic transformation of primary gastric tumor and liver metastases. The duration of response was 8 months.