Publications by authors named "David Tw Jones"
Background: (formerly known as fused supratentorial ependymoma (fus ST-EPN) has been recognized as a novel entity in the 2016 WHO classification of CNS tumors and further defined in the recent 2021 edition. fus ST-EPN was reported to portend poorer prognosis when compared to its counterpart, ST-EPN in some previously published series. The aim of this study was to determine the treatment outcome of molecularly confirmed and conventionally treated fus ST-EPN patients treated in multiple institutions.
View Article and Find Full Text PDFIn this study, we report three paediatric cases of Diffuse Glioneuronal Tumours with Oligodendroglioma-like features and Nuclear Clusters (DGONC).
View Article and Find Full Text PDFThe rare benign giant cell tumour of bone (GCTB) is defined by an almost unique mutation in the H3.3 family of histone genes H3-3A or H3-3B; however, the same mutation is occasionally found in primary malignant bone tumours which share many features with the benign variant. Moreover, lung metastases can occur despite the absence of malignant histological features in either the primary or metastatic lesions.
View Article and Find Full Text PDFRecently a novel subtype of endometrial stromal sarcoma (ESS) defined by recurrent genomic alterations involving BCOR has been described (HGESS-BCOR). We identified a case of HGESS-BCOR with a ZC3H7B-BCOR gene fusion, which harbored an amplification of the MDM2 locus. This index case prompted us to investigate MDM2 amplification in four additional cases of HGESS-BCOR.
View Article and Find Full Text PDFGlioblastoma (GBM) is a typically lethal type of brain tumor with a median survival of 15 months postdiagnosis. This negative prognosis prompted the exploration of alternative treatment options. In particular, the reliance of GBM on angiogenesis triggered the development of anti-VEGF (vascular endothelial growth factor) blocking antibodies such as bevacizumab.
View Article and Find Full Text PDFArticle Synopsis
- - The study focuses on congenital mesoblastic nephroma (CMN) and its genetic characteristics, comparing it with related soft tissue tumors of infancy.
- - A significant discovery includes a recurrent mutation in the EGFR gene specific to CMN, helping to differentiate it from other pediatric kidney tumors.
- - The research also identifies intragenic rearrangements in the BRAF gene in both CMN and infantile fibrosarcoma (IFS), suggesting new diagnostic markers and potential treatments for these tumors.
Article Synopsis
- SOX9 is a master transcription factor involved in development and stem cell processes, and its regulation by FBW7, a tumor suppressor, is key to understanding its role in cancer.
- FBW7 targets SOX9 for degradation by recognizing a specific site phosphorylated by GSK3; if SOX9 isn't degraded, it leads to increased migration, metastasis, and drug resistance in medulloblastoma.
- In medulloblastoma, mutations or low levels of FBW7 result in elevated SOX9, correlating with worse patient outcomes; inhibiting the PI3K/AKT/mTOR pathway can destabilize SOX9, making cancer cells more susceptible to treatment.