PAWS-GIST Research Projects
Research Initiatives
Since the start of PAWS-GIST in 2010 our aim has always been to stimulate research for improved treatments and a cure. It has taken a while as we needed first of all to set up The National GIST Tissue Bank, The PAWS-GIST clinic and then locate some researchers willing to work with us. However, our dream is beginning to come true...
Below is a list of PAWS-GIST research, much of which has been funded by donations and grants made to PAWS-GIST that are held by GIST Cancer UK.
It is only as a result of fundraising by family friends and supporters that this work can happen.
Thanks to everyone who has and continues to raise funds for PAWS-GIST, look at what you are helping us to achieve!
Wildtype SDH Deficient GIST in the UK; A review of clinical course, genetics, epigenetics and metabolomics.
Dr Ruth Casey
Principal investigator (PI) - Dr Ruth Casey
Funding awarded by GCUK - £60,000
Project Duration - 3rd January 2017 to 31st December 2020.
Research outputs:
Dr Casey's research papers were published in PubMed as follows:
- 2017 - SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. https://pubmed.ncbi.nlm.nih.gov/28546994/
- 2018 - Translating in vivo metabolomic analysis of succinate dehydrogenase deficient tumours into clinical utility. https://pubmed.ncbi.nlm.nih.gov/30949620/
- 2019 - SDHC epi-mutation testing in gastrointestinal stromal tumours and related tumours in clinical practice. https://pubmed.ncbi.nlm.nih.gov/31308404/
- 2020 - A review of the tumour spectrum of germline succinate dehydrogenase gene mutations: Beyond phaeochromocytoma and paraganglioma. https://pubmed.ncbi.nlm.nih.gov/32686200/
- 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/
Next generation sequencing of WT GIST's to identify therapeutic targets.
Dr Newton Wong
Principal investigator (PI) - Dr Newton Wong
Funding awarded by GCUK - £15,389
Project Duration - 1st July 2017 - June 2020
Research outputs:
June 2020 - Dr Wong’s research paper “Next generation sequencing demonstrates the rarity of short kinase variants specific to quadruple wild type gastrointestinal stromal tumours”. Was published in the Journal of Clinical Pathology: http://dx.doi.org/10.1136/jclinpath-2020-206613
Derivation, maintenance and characterisation of cell lines from biopsies of PAWS-GIST.
Dr Karen Sisley
Principal investigator (PI) - Dr Karen Sisley
Funding awarded by GCUK - £15,180
Project Duration - 1st August 2016 - ongoing
Research outputs: TBC
Research to investigate the potential of Gallium-68 (68Ga) DOTA-conjugated peptidePET/CT to develop theranostic applications in wild-type gastrointestinal stromal tumours (GISTs).
Dr Ruth Casey
Principal investigator (PI) - Dr Ruth Casey
Funding awarded by GCUK - £21,000
Project Duration - Starting in 2019
Research outputs: TBC
Investigating the utility of serum miRNA as a tumour biomarker to guide surveillance in patients with dSDH GIST and PPGL.
Dr Ruth Casey
Principal investigator (PI) - Dr Ruth Casey
Funding awarded by GCUK from the PAWS-GIST Research fund- £76,886
Project Duration - 2020 - December 2023
Research outputs: 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
Dr Olivier Giger
Principal investigator (PI) - Dr Olivier Giger
Funding awarded by GCUK - £7,000
Project Duration - March 2019 - September 2019
Research outputs: Preferential MGMT hypermethylation in SDH-deficient wild-type GIST
https://pubmed.ncbi.nlm.nih.gov/36198483/
Metabolic alterations and vulnerabilities of succinate dehydrogenase-deficient GIST
Professor Eyal Gottlieb
Principal investigator (PI) - Professor Eyal Gottlieb
Funding awarded by GCUK - No Funding (Tissue supplied by National GIST Tissue Bank)
Project Duration - Commenced 2018
Research outputs: TBC
Investigating the potential of deuterium metabolic imaging in SDH-deficient GIST
Principal investigator (PI) - Dr Mary McLean
Funding awarded by GCUK - £20, 475
Project Duration - October 2023 - September 2025
Research outputs: TBC