Essential Site Maintenance: Authorea-powered sites will be updated circa 15:00-17:00 Eastern on Tuesday 5 November.
There should be no interruption to normal services, but please contact us at [email protected] in case you face any issues.

loading page

Metastatic and multiply relapsed SDH deficient GIST and paraganglioma displays clinical response to combined Poly ADP-Ribose Polymerase inhibition and Temozolomide
  • +2
  • Juan Vasquez,
  • Charu Singh,
  • Ranjit Bindra,
  • Peter M. Glazer,
  • Farzana Pashankar
Juan Vasquez
Yale School of Medicine

Corresponding Author:[email protected]

Author Profile
Charu Singh
Yale School of Medicine
Author Profile
Ranjit Bindra
Yale School of Medicine
Author Profile
Peter M. Glazer
Yale School of Medicine
Author Profile
Farzana Pashankar
Yale School of Medicine
Author Profile

Abstract

Pediatric GIST (gastrointestinal stromal tumors) are mostly KIT/ PDGFRA-WT and harbor mutations in SDH (succinate dehydrogenase), making them TKI (tyrosine kinase inhibitor) resistant due to the absence of gain-of-function tyrosine kinase mutations. Due to rarity of GIST in children, there have been few clinical trials available for patients with advanced disease, resulting in limited treatment options and a lack of pediatric-specific consensus guidelines. Here, we report the case of a patient with progressive, metastatic SDHB-mutant GIST that displayed a significant clinical response with a combination of Olaparib and TMZ (temozolomide).