Cláudia C. Faria
- Glioma Diagnosis and Treatment
- Chromatin Remodeling and Cancer
- Hedgehog Signaling Pathway Studies
- Cancer Genomics and Diagnostics
- Microtubule and mitosis dynamics
- Neuroblastoma Research and Treatments
- Brain Metastases and Treatment
- Cancer, Hypoxia, and Metabolism
- Epigenetics and DNA Methylation
- Pituitary Gland Disorders and Treatments
- Cancer Cells and Metastasis
- Cerebrospinal fluid and hydrocephalus
- RNA Research and Splicing
- Wnt/β-catenin signaling in development and cancer
- Spinal Dysraphism and Malformations
- Growth Hormone and Insulin-like Growth Factors
- Cancer Mechanisms and Therapy
- Adrenal and Paraganglionic Tumors
- Craniofacial Disorders and Treatments
- Ferroptosis and cancer prognosis
- Genomics and Rare Diseases
- Cancer-related molecular mechanisms research
- Cleft Lip and Palate Research
- Protein Degradation and Inhibitors
- Genomics and Chromatin Dynamics
Hospital de Santa Maria
2016-2025
University of Lisbon
2014-2024
European Bioinformatics Institute
2024
Genomics England
2024
Boston Children's Hospital
2024
University College London
2024
Royal National Orthopaedic Hospital
2024
Ezequiel Dias Foundation
2024
Centro Hospitalar Lisboa Norte
2014-2023
Hospital de Egas Moniz
2022-2023
Medulloblastoma comprises four distinct molecular subgroups: WNT, SHH, Group 3, and 4. Current medulloblastoma protocols stratify patients based on clinical features: patient age, metastatic stage, extent of resection, histologic variant. Stark prognostic genetic differences among the subgroups suggest that subgroup-specific biomarkers could improve prognostication.Molecular were identified from a discovery set 673 medulloblastomas 43 cities around world. Combined risk stratification models...
Infant gliomas have paradoxical clinical behavior compared to those in children and adults: low-grade tumors a higher mortality rate, while high-grade better outcome. However, we little understanding of their biology therefore cannot explain this nor what constitutes optimal management. Here report comprehensive genetic analysis an international cohort clinically annotated infant gliomas, revealing 3 subgroups. Group 1 arise the cerebral hemispheres harbor alterations receptor tyrosine...
Posterior fossa ependymoma comprises two distinct molecular variants termed EPN_PFA and EPN_PFB that have a biology natural history. The therapeutic value of cytoreductive surgery radiation therapy for posterior after accounting subgroup is not known.Four independent nonoverlapping retrospective cohorts ependymomas (n = 820) were profiled using genome-wide methylation arrays. Risk stratification models designed based on known clinical newly described biomarkers identified by multivariable...
Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT medulloblastoma have not been described. Hence, we sought describe these their impact a subgroup-specific manner. We analyzed by direct sequencing genotyping 466 medulloblastomas. The mutational distributions determined according subgroup affiliation, demographics, clinical,...
Abstract Sonic hedgehog medulloblastoma encompasses a clinically and molecularly diverse group of cancers the developing central nervous system. Here, we use unbiased sequencing transcriptome across large cohort 250 tumors to reveal differences among molecular subtypes disease, demonstrate previously unappreciated importance non-coding RNA transcripts. We identify alterations within cAMP dependent pathway ( GNAS , PRKAR1A ) which converge on GLI2 activity show that 18% have genetic event...
Within PF-EPN-A, 1q gain is a marker of poor prognosis, however, it unclear if within PF-EPN-A additional cytogenetic events exist which can refine risk stratification.Five independent non-overlapping cohorts were analyzed applying genome-wide methylation arrays for chromosomal and clinical variables predictive survival.Across all cohorts, 663 identified. The most common broad copy number event was (18.9%), followed by 6q loss (8.6%), 9p (6.5%), 22q (6.8%). tumors, there significant...
We sought to investigate clinical outcomes of relapsed medulloblastoma and compare molecular features between patient-matched diagnostic tumors.Children infants enrolled on either SJMB03 (NCT00085202) or SJYC07 (NCT00602667) trials who experienced relapse were analyzed for outcomes, including anatomic temporal patterns postrelapse survival. A largely independent, paired cohort was by DNA methylation array next-generation sequencing.A total 72 329 (22%) 52 79 (66%) patients with significant...
Abstract Whole-brain radiotherapy (WBRT) is the treatment backbone for many patients with brain metastasis; however, its efficacy in preventing disease progression and associated toxicity have questioned clinical impact of this approach emphasized need alternative treatments. Given limited therapeutic options available these poor understanding molecular mechanisms underlying resistance metastatic lesions to WBRT, we sought uncover actionable targets biomarkers that could help refine patient...
The use of computational tools to identify biological targets natural products with anticancer properties and unknown modes action is gaining momentum. We employed self-organizing maps deconvolute the phenotypic effects piperlongumine (PL) establish a link modulation human transient receptor potential vanilloid 2 (hTRPV2) channel. structure PL-bound full-length rat TRPV2 channel was determined by cryo-EM. PL binds allosteric pocket responsible for new mode activity against glioblastoma (GBM)...
Medulloblastoma is the most common malignant pediatric brain tumor, with metastases present at diagnosis conferring a poor prognosis. Mechanisms of dissemination are poorly understood and metastatic lesions genetically divergent from matched primary tumor. Effective less toxic therapies that target both compartments have yet to be identified. Here, we report analysis several large nonoverlapping cohorts patients medulloblastoma reveals MET kinase as marker sonic hedgehog (SHH)-driven...
Background Children presenting with medulloblastoma have a wide range of initial symptoms. However, the influence underlying tumor biology on presentation is currently unknown. In light recent discovery distinct subgroups, we sought to define childhood in subgroup specific manner. Procedure We assembled cohort 126 cases at Hospital for Sick between 1994 and 2012 determined affiliation using nanoString. Clinical details pertaining were through retrospective chart review. Results The median...