GIST Research Papers
Read about research to improve treatments and find a cure for GIST cancer.
Previously published papers from GIST Cancer UK funded research projects
GCUK is focused on stimulating research to improve treatments and find a cure for GIST cancer. This aim is only made possible through the funds raised by our supporters, and the dedication of the researchers who work with us.
Project: Wildtype SDH Deficient GIST in the UK; A review of clinical course, genetics, epigenetics and metabolomics.
Principal Investigator (PI) - Dr Ruth Casey
Research Papers: Dr Casey's findings were published in PubMed as follows:
- 2021 - "Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2." https://pubmed.ncbi.nlm.nih.gov/33854214/
- 2020 - "A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma." https://pubmed.ncbi.nlm.nih.gov/32686200/
- 2019 - "SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice." https://pubmed.ncbi.nlm.nih.gov/31308404/
- 2018 - "Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility." https://pubmed.ncbi.nlm.nih.gov/30949620/
- 2017 - "SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity." https://pubmed.ncbi.nlm.nih.gov/28546994/
Project: Research to investigate the potential of Gallium-68 (68Ga) DOTA-conjugated peptidePET/CT to develop theranostic applications in wild-type gastrointestinal stromal tumours (GISTs).
Principal investigator (PI) - Dr Ruth Casey
This research showed that Ga-DOTATATE PET/CT may have an important diagnostic role in identifying and differentiating PPGL lesions from metastatic wtGIST. Ga-DOTATATE PET/CT demonstrated intense tracer uptake in a synchronous paraganglioma in one case and a metachronous paraganglioma in another case with wtGIST.
Research outputs: Ga-DOTATATE PET/CT may have specific diagnostic utility in differentiating wtGIST from other primary tumours such as paraganglioma in patients with sporadic and hereditary forms of wtGIST.
Dr Casey's research paper was published in PubMed as follows:
- 2021 - The role of [ 68 Ga]Ga-DOTATATE PET/CT in wild-type KIT/PDGFRA gastrointestinal stromal tumours (GIST). https://pubmed.ncbi.nlm.nih.gov/33443647/
Project: Investigating the utility of serum miRNA as a tumour biomarker to guide surveillance in patients with dSDH GIST and PPGL.
Principal Investigator (PI) - Dr Ruth Casey
MGMT promoter hypermethylation occurs exclusively in a subset of dSDH wtGIST.
Data from this study supports testing of tumour MGMT promoter methylation in patients with dSDH wtGIST to identify those patients who may benefit from most from TMZ therapy.
- 2023 - "Preferential MGMT hypermethylation in SDH-deficient wild-type GIST" https://pubmed.ncbi.nlm.nih.gov/36198483/
Pilot Study - Altered RNA methylation in SDH deficient gastrointestinal stromal tumours
Principal Investigator (PI) - Dr Olivier Giger
Research outputs: Dr. Giger's findings were published in PubMed as part of the above project.
Project: Next generation sequencing of WT GIST's to identify therapeutic targets.
Principal Investigator (PI) - Dr Newton Wong
There is no known specific biomarker or genetic signal for quadruple wild-type (qWT) gastrointestinal stromal tumours (GISTs). By next-generation sequencing (NGS) of different GIST subgroups, this study aimed to characterise such a biomarker especially as a potential therapeutic target.
Short kinase variants which are specific to qWT GISTs are rare and are not universally demonstrated by this whole subgroup. It is therefore possible that the current definition of qWT GIST still covers a heterogenous population.
Research Paper(s): Dr Wong's findings were published in the Journal of Clinical Pathology
- June 2020 - “Next generation sequencing demonstrates the rarity of short kinase variants specific to quadruple wild type gastrointestinal stromal tumours” http://dx.doi.org/10.1136/jclinpath-2020-206613
Project: Collection of GIST tissue samples stored in hospital pathology departments for patients who had been treated at the Marsden over previous years, then retrospectively undertake mutational analysis of all the samples.
Principal Investigator (PI) - Professor Ian Judson
Research outputs: Professor Judson's research paper was published in Cancer Biology & Therapy as follows:
- 2016 p.(L576P) -"KIT mutation in GIST: Favorable prognosis and sensitive to imatinib?" https://www.tandfonline.com/doi/full/10.1080/15384047.2016.1156263