Ana Guerreiro Stücklin
A5011919001- Glioma Diagnosis and Treatment
- Neuroblastoma Research and Treatments
- Cancer Genomics and Diagnostics
- Chromatin Remodeling and Cancer
- Cancer, Hypoxia, and Metabolism
- Hedgehog Signaling Pathway Studies
- Lung Cancer Treatments and Mutations
- PI3K/AKT/mTOR signaling in cancer
- Neurofibromatosis and Schwannoma Cases
- Sarcoma Diagnosis and Treatment
- Epigenetics and DNA Methylation
- ATP Synthase and ATPases Research
- Meningioma and schwannoma management
- Histone Deacetylase Inhibitors Research
- Renal and related cancers
- Ocular Oncology and Treatments
- Brain Metastases and Treatment
- Ubiquitin and proteasome pathways
- Cancer Research and Treatments
- Protein Degradation and Inhibitors
- Radiomics and Machine Learning in Medical Imaging
- Childhood Cancer Survivors' Quality of Life
- Circular RNAs in diseases
- Acute Lymphoblastic Leukemia research
- Cancer Cells and Metastasis
University Children's Hospital Zurich
2007-2025
University of Zurich
2007-2022
University of Chicago
2022
Children's Center
2022
Hospital for Sick Children
2015-2021
SickKids Foundation
2016-2021
Brain Tumour Research
2017-2018
McMaster Children's Hospital
2017
University of Toronto
2015-2017
Human Genome Sciences (United States)
2017
Purpose BRAF V600E is a potentially highly targetable mutation detected in subset of pediatric low-grade gliomas (PLGGs). Its biologic and clinical effect within this diverse group tumors remains unknown. Patients Methods A combined genetic institutional study patients with PLGGs long-term follow-up was performed (N = 510). Clinical treatment data mutated PLGG (n 99) were compared large international independent cohort mutated-PLGG 180). Results 69 405 (17%) across broad spectrum histologies...
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...
To uncover the genetic events leading to transformation of pediatric low-grade glioma (PLGG) secondary high-grade (sHGG).We retrospectively identified patients with sHGG from a population-based cohort 886 PLGG long clinical follow-up. Exome sequencing and array CGH were performed on available samples followed by detailed analysis entire cohort. Clinical outcome data genetically distinct subgroups obtained.sHGG was observed in 2.9% PLGGs (26 patients). Patients had high frequency nonsilent...
The phosphoinositide 3-kinase (PI3K) pathway is frequently activated in human cancer and represents an attractive target for therapies based on small molecule inhibitors. PI3K isoforms play essential role the signal transduction events by cell surface receptors including receptor tyrosine kinases (RTKs) G-protein-coupled (GPCRs). There are eight known humans, which have been subdivided into three classes (I-III). Therefore PI3Ks show considerable diversity it remains unclear this family...
BACKGROUND The determinants of outcomes for adult survivors pediatric low‐grade glioma (PLGG) are largely unknown. METHODS This study collected population‐based follow‐up information all PLGG patients diagnosed in Ontario, Canada from 1985 to 2012 (n = 1202) and determined factors affecting survival. impact upfront radiation treatment on overall survival (OS) was a cohort Ontario an independent reference the Surveillance, Epidemiology, End Results database. RESULTS At median 12.73 years...
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...
Pediatric brain tumors are the leading cause of cancer-related death in children United States and contribute a disproportionate number potential years life lost compared to adult cancers. Moreover, survivors frequently suffer long-term side effects, including secondary The Children's Brain Tumor Network (CBTN) is multi-institutional international clinical research consortium created advance therapeutic development through collection rapid distribution biospecimens data via open-science...
Abstract Infants with low‐grade glioma (LGG) have a poor survival. BRAFV600E mutation has been identified in pediatric LGG; however, the use of BRAF inhibitors infants never reported. A 2‐month‐old V600E mutant hypothalamic/chiasmatic progressed on chemotherapy resulting profound visual loss, massive ascites, and diencephalic syndrome. Initiation dabrafenib resulted rapid sustained disappearance clinical symptoms cytoreduction. inhibition was safely tolerated dramatic clinicoradiological...
Abstract Purpose: The phosphoinositide 3-kinase (PI3K)/Akt pathway is frequently activated in human cancer and plays a crucial role medulloblastoma biology. We were interested gaining further insight into the potential of targeting PI3K/Akt signaling as novel antiproliferative approach medulloblastoma. Experimental Design: expression pattern functions class IA PI3K isoforms investigated tumour samples cell lines. Effects on survival downstream analyzed following down-regulation p110α, p110β,...
Previous studies identified recurrent fusion and duplication events in pediatric low-grade glioma (pLGG). In addition to their role diagnosis, the presence of these aid dictating therapy predicting patient survival. Clinically, BRAF alterations are most commonly using fluorescent situ hybridization (FISH). However, this method is costly, labor-intensive does not identify nonBRAF events. Here, we evaluated NanoString nCounter gene expression system for detecting 32 reported fusion/duplication...
Medulloblastoma is the most common malignant brain tumor in children and associated with a poor outcome. We were interested gaining further insight into potential of targeting human kinome as novel approach to sensitize medulloblastoma chemotherapeutic agents. A library small interfering RNA (siRNA) was used downregulate known protein lipid kinases cell lines. The analysis proliferation, presence or absence low dose cisplatin after siRNA transfection, identified new involved chemoresistance....
Abstract Background Both genetic and methylation analysis have been shown to provide insight into the diagnosis prognosis of many brain tumors. However, implication profiling its interaction with alterations in pediatric low-grade gliomas (PLGGs) are unclear. Methods We performed a comprehensive PLGG long-term clinical follow-up. In total 152 PLGGs were analyzed from range pathological subtypes, including 40 gangliogliomas. Complete molecular was compared genome-wide data outcome all...
The microenvironment shapes cell behavior and determines metastatic outcomes of tumors. We addressed how microenvironmental cues control tumor invasion in pediatric medulloblastoma (MB). show that bFGF promotes MB through FGF receptor (FGFR) vitro blockade FGFR represses brain tissue infiltration vivo. TGF-β regulates pro-migratory function a context-dependent manner. Under low bFGF, the non-canonical pathway causes ROCK activation cortical translocation ERK1/2, which antagonizes signaling...
The use of magnetic resonance-guided laser interstitial thermal therapy (LITT) for the treatment brain tumors and epileptic lesions has increased in field pediatric neurosurgery. However, very little is known about effect LITT on high-grade that have been previously treated with radiotherapy. We report two cases children an unexpected rapid tumor progression after LITT. first case was 11-year-old boy a periventricular metastasis recurrent anaplastic ependymoma proton-therapy radiosurgery....
Abstract Pediatric high-grade glioma (pedHGG) can occur as first manifestation of cancer predisposition syndromes resulting from pathogenic germline variants in the DNA mismatch repair (MMR) genes MSH2 , MSH6 MLH1 and PMS2 . The aim this study was to establish a generalized screening for Lynch syndrome constitutional MMR deficiency (CMMRD) pedHGG patients, detection deficiencies (MMRD) may enable upfront therapeutic use checkpoint inhibitors identification variant carriers patients’...