Cynthia Hawkins
- Glioma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Chromatin Remodeling and Cancer
- Cancer Immunotherapy and Biomarkers
- Cancer Genomics and Diagnostics
- Cancer, Hypoxia, and Metabolism
- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- RNA modifications and cancer
- Brain Metastases and Treatment
- Meningioma and schwannoma management
- Hedgehog Signaling Pathway Studies
- Neurofibromatosis and Schwannoma Cases
- Microtubule and mitosis dynamics
- Ocular Oncology and Treatments
- Sarcoma Diagnosis and Treatment
- MicroRNA in disease regulation
- Childhood Cancer Survivors' Quality of Life
- Radiomics and Machine Learning in Medical Imaging
- Mitochondrial Function and Pathology
- Ferroptosis and cancer prognosis
- DNA Repair Mechanisms
- ATP Synthase and ATPases Research
- Histone Deacetylase Inhibitors Research
- Pancreatic and Hepatic Oncology Research
Hospital for Sick Children
2016-2025
University of Toronto
2016-2025
SickKids Foundation
2016-2025
Canada Research Chairs
2025
University of New Brunswick
2025
Brigham and Women's Hospital
2013-2024
Johns Hopkins University
2010-2024
California University of Pennsylvania
2024
Rush University Medical Center
2024
Washington University in St. Louis
2024
Recent genomic approaches have suggested the existence of multiple distinct subtypes medulloblastoma. We studied a large cohort medulloblastomas to determine how many subgroups disease exist, they differ, and extent overlap between subgroups.We determined gene expression profiles DNA copy number aberrations for 103 primary medulloblastomas. Bioinformatic tools were used class discovery medulloblastoma based on most informative genes in data set. Immunohistochemistry subgroup-specific...
Pediatric glioblastomas (GBM) including diffuse intrinsic pontine gliomas (DIPG) are devastating brain tumors with no effective therapy. Here, we investigated clinical and biological impacts of histone H3.3 mutations. Forty-two DIPGs were tested for Wild-type versus mutated (K27M-H3.3) subgroups compared HIST1H3B, IDH, ATRX TP53 mutations, copy number alterations outcome. K27M-H3.3 occurred in 71 %, mutations 77 % 9 DIPGs. more frequent older children (p < 0.0001). No G34V/R-H3.3, IDH1/2 or...
Recurrent glioblastoma multiforme (GBM) is incurable with current therapies. Biallelic mismatch repair deficiency (bMMRD) a highly penetrant childhood cancer syndrome often resulting in GBM characterized by high mutational burden. Evidence suggests that mutation and neoantigen loads are associated response to immune checkpoint inhibition.We performed exome sequencing prediction on 37 bMMRD cancers compared them adult brain neoplasms. Neoantigen was responsive from multiple tissues. Two...
Proliferating embryonic and cancer cells preferentially use aerobic glycolysis to support growth, a metabolic alteration commonly referred as the “Warburg effect.” Here, we show that glycolytic enzyme hexokinase 2 (HK2) is crucial for Warburg effect in human glioblastoma multiforme (GBM), most common malignant brain tumor. In contrast normal low-grade gliomas, which express predominantly HK1, GBMs increased HK2 expression. expression correlates with worse overall survival of GBM patients....
Major discoveries in the biology of nervous system tumors have raised question how non-histological data such as molecular information can be incorporated into next World Health Organization (WHO) classification central tumors. To address this question, a meeting neuropathologists with expertise diagnosis was held Haarlem, Netherlands, under sponsorship International Society Neuropathology (ISN). Prior to meeting, participants solicited input from clinical colleagues diverse...
cIMPACT-NOW (the Consortium to Inform Molecular and Practical Approaches CNS Tumor Taxonomy) was established evaluate make practical recommendations on recent advances in the field of tumor classification, particularly light rapid progress molecular insights into these neoplasms. For Round 2 its deliberations, Working Committee 3 reconstituted convened Utrecht, The Netherlands, for a meeting designed review putative new types advance any future World Health Organization classification. In...
Reports detailing the prognostic impact of TP53 mutations in medulloblastoma offer conflicting conclusions. We resolve this issue through inclusion molecular subgroup profiles.We determined affiliation, mutation status, and clinical outcome a discovery cohort 397 medulloblastomas. subsequently validated our results on an independent 156 medulloblastomas.TP53 are enriched wingless (WNT; 16%) sonic hedgehog (SHH; 21%) medulloblastomas virtually absent subgroups 3 4 tumors (P < .001). Patients...
The diagnosis of medulloblastoma likely encompasses several distinct entities, with recent evidence for the existence at least four unique molecular subgroups that exhibit genetic, transcriptional, demographic, and clinical features. Assignment subgroup through routine profiling high-quality RNA on expression microarrays is impractical in setting. planning execution trials stratify by subgroup, or which are targeted to a specific requires technologies can be economically, rapidly, reliably,...
Purpose Diffuse intrinsic pontine glioma (DIPG) is a brainstem malignancy with median survival of < 1 year. The International and European Society for Pediatric Oncology DIPG Registries collaborated to compare clinical, radiologic, histomolecular characteristics between short-term survivors (STSs) long-term (LTSs). Materials Methods Data abstracted from registry databases included patients North America, Australia, Germany, Austria, Switzerland, the Netherlands, Italy, France, United...