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Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations
- K. Janeway, S. Y. Kim, C. Stratakis
- Medicine, BiologyProceedings of the National Academy of Sciences
- 20 December 2010
WT GISTs, particularly those in younger patients, have defects in SDH mitochondrial complex II, and in a subset of these patients, GIST seems to arise from germline-inactivating SDH mutations.
Molecular Subtypes of KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Gastrointestinal Stromal Tumor Clinic.
An observational study of WT GIST permitted the evaluation of a large number of patients with this rare disease, and three molecular subtypes with implications for prognosis and clinical management were identified.
Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma
- J. Perry, Adam Kiezun, K. Janeway
- BiologyProceedings of the National Academy of Sciences
- 9 October 2014
Significance We present, to our knowledge, the first comprehensive next-generation sequencing of osteosarcoma in combination with a functional genomic screen in a genetically defined mouse model of…
Succinate dehydrogenase mutation underlies global epigenomic divergence in gastrointestinal stromal tumor.
A striking divergence is uncovered between the DNA methylation profiles of SDH-deficient GIST versus KIT tyrosine kinase pathway-mutated GIST, which generally implicate the mitochondrial Krebs cycle in nuclear epigenomic maintenance.
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome
There are sufficient existing data to recommend that all patients with LFS be offered cancer surveillance as soon as the clinical or molecular LFS diagnosis is established, and a modified version of the “Toronto protocol” is recommended.
Comparison of MAPIE versus MAP in patients with a poor response to preoperative chemotherapy for newly diagnosed high-grade osteosarcoma (EURAMOS-1): an open-label, international, randomised…
Differentiation of NUT midline carcinoma by epigenomic reprogramming.
Findings provide preclinical support for trials of HDACi in patients with NMC, and show that expression of BRD4-NUT is associated with globally decreased histone acetylation and transcriptional repression.
Sequelae of osteosarcoma medical therapy: a review of rare acute toxicities and late effects.
Detection of Somatic Structural Variants Enables Quantification and Characterization of Circulating Tumor DNA in Children With Solid Tumors.
It is shown that children with the most common solid tumor malignancies have detectable levels of ctDNA, which may be used to track disease response and identify genomic subclassifiers of disease.
MicroRNA paraffin-based studies in osteosarcoma reveal reproducible independent prognostic profiles at 14q32
Combined miRNA and mRNA analysis supports a possible role of the 14q32 locus in osteosarcoma progression and outcome and creates a paradigm for formalin-fixed, paraffin-embedded-based miRNA biomarker studies in cancer.