E. Zeynep Erson‐Omay
A5029749334- Meningioma and schwannoma management
- Neurofibromatosis and Schwannoma Cases
- Glioma Diagnosis and Treatment
- Pituitary Gland Disorders and Treatments
- Cancer Genomics and Diagnostics
- Chromatin Remodeling and Cancer
- Head and Neck Surgical Oncology
- Bone Tumor Diagnosis and Treatments
- Vascular Malformations Diagnosis and Treatment
- Radiomics and Machine Learning in Medical Imaging
- Hedgehog Signaling Pathway Studies
- Neuroblastoma Research and Treatments
- Adrenal and Paraganglionic Tumors
- Genetic factors in colorectal cancer
- Tumors and Oncological Cases
- Intracranial Aneurysms: Treatment and Complications
- Epigenetics and DNA Methylation
- Teratomas and Epidermoid Cysts
- Genomics and Rare Diseases
- Ubiquitin and proteasome pathways
- Cancer-related gene regulation
- Neuroendocrine Tumor Research Advances
- Epilepsy research and treatment
- CNS Lymphoma Diagnosis and Treatment
- Lymphoma Diagnosis and Treatment
Yale University
2016-2025
Smilow Cancer Hospital
2021-2024
Yale Cancer Center
2014-2023
Yale New Haven Hospital
2020-2022
Stony Brook University
2021
Kanazawa University
2021
Neurological Surgery
2021
Acıbadem University
2015
Selçuk University
2015
Memorial Sloan Kettering Cancer Center
2015
Genetic Clues to Meningioma Meningiomas are the most common primary brain tumors in adults. Located within layer of tissue covering brain, these usually slow-growing and benign but can cause serious neurological complications. About half have mutations neurofibromin 2 gene ( NF2 ). To identify other genes that contribute meningioma pathogenesis, Clark et al. (p. 1077 , published online 24 January) performed genome sequence analysis on 300 tumors. fell into two general classes: located at...
Abstract Meningiomas are mostly benign brain tumours, with a potential for becoming atypical or malignant. On the basis of comprehensive genomic, transcriptomic and epigenomic analyses, we compared meningiomas to ones. Here, show that majority primary ( de novo ) display loss NF2 , which co-occurs either genomic instability recurrent SMARCB1 mutations. These tumours harbour increased H3K27me3 signal hypermethylated phenotype, mainly occupying polycomb repressive complex 2 (PRC2) binding...
OBJECTIVE Recent large-cohort sequencing studies have investigated the genomic landscape of meningiomas, identifying somatic coding alterations in NF2 , SMARCB1 SMARCE1 TRAF7, KLF4, POLR2A BAP1 and members PI3K Hedgehog signaling pathways. Initial associations between clinical features subgroups been described, including location, grade, histology. However, further investigation using an expanded collection samples is needed to confirm previous findings, as well elucidate relationships not...
We and others have identified mutually exclusive molecular subgroups of meningiomas; however, the implications this classification for clinical prognostication remain unclear. Integrated genomic epigenomic analyses implicate unique oncogenic processes associated with each subgroup, suggesting potential divergent courses. The aim study was to understand outcomes as could optimize treatment patients.We analyzed outcome data 469 meningiomas known including extent resection, postoperative...
Malignant high-grade gliomas (HGGs), including the most aggressive form, glioblastoma multiforme, show significant clinical and genomic heterogeneity. Despite recent advances, overall survival of HGGs their response to treatment remain poor. In order gain further insight into disease pathophysiology by correlating landscape with behavior, thereby identifying distinct HGG molecular subgroups associated improved prognosis, we performed a comprehensive analysis. We analyzed compared 720...
Abstract To elucidate the pathogenesis of vein Galen malformations (VOGMs), most common and severe congenital brain arteriovenous malformations, we performed an integrated analysis 310 VOGM proband-family exomes 336,326 human cerebrovasculature single-cell transcriptomes. We found Ras suppressor p120 RasGAP ( RASA1 ) harbored a genome-wide significant burden loss-of-function de novo variants (2042.5-fold, p = 4.79 x 10 −7 ). Rare, damaging transmitted were enriched in Ephrin receptor-B4...
Cerebral cortex development in humans is a highly complex and orchestrated process that under tight genetic regulation. Rare mutations alter gene expression or function can disrupt the structure of cerebral cortex, resulting range neurological conditions1. Lissencephaly ('smooth brain') spectrum disorders comprise group rare, genetically heterogeneous congenital brain malformations commonly associated with epilepsy intellectual disability2. However, molecular mechanisms underlying disease...
Abstract Meningiomas are the most common central nervous system tumors. Although these tumors extra-axial, a relatively high proportion (10%–50%) of meningioma patients have seizures that can substantially impact quality life. believed to cause by inducing cortical hyperexcitability results from mass effect and irritation, brain invasion, or peritumoral edema. In general, meningiomas associated with aggressive features, risk factors including atypical histology, higher tumor grade. Somatic...
Abstract Hedgehog signaling mediates embryologic development of the central nervous system and other tissues is frequently hijacked by neoplasia to facilitate uncontrolled cellular proliferation. Meningiomas, most common primary brain tumor, exhibit activation in 6.5% cases, triggered recurrent mutations pathway mediators such as SMO . In this study, we find 35.6% meningiomas that lack previously known drivers acquired various types somatic structural variations affecting chromosomes 2q35...
OBJECTIVE Recent studies have established that hemispheric diffuse gliomas may be grouped into subsets on the basis of molecular markers; these are loosely correlated with histopathological diagnosis but strong predictors clinical tumor behavior. Based an analysis and parameters, authors hypothesized mutations telomerase promoter (TERTp-mut) mark separate oncogenic programs among isocitrate dehydrogenase 1 and/or 2 (IDH) mutant (IDH-mut) IDH wild-type (IDH-wt) independent histopathology or...
The single nucleotide polymorphism rs55705857, located in a non-coding but evolutionarily conserved region at 8q24.21, is strongly associated with IDH-mutant glioma development and was suggested to be causal variant. However, the molecular mechanism underlying this association has remained unknown. With case control study 285 gliomas, 316 healthy controls, 380 systemic cancers, 31 other CNS-tumors, 120 cartilaginous tumors, we identified that specific gliomas. Odds-ratios were 9.25...
Glioblastoma multiforme (GBM) constitutes nearly half of all malignant brain tumors and has a median survival 15 months. The standard treatment for these lesions includes maximal resection, radiotherapy, chemotherapy; however, individual display immense variability in their response to approaches. Genomic techniques such as whole-exome sequencing (WES) provide an opportunity understand the molecular basis this variability. Here, we report WES-guided patient with primary GBM two subsequent...
Abstract Centenarians represent a unique cohort to study the genetic basis for longevity and factors determining risk of neurodegenerative disorders, including Alzheimer’s disease (AD). The estimated contribution is highest in centenarians super-cententenarians, but few variants have been shown clearly impact this phenotype. While AD other dementias now well understood, frequency known dementia not fully characterized. To address these questions, we performed whole-exome sequencing on 100...
Summary SLIT2 constitutes a known tumour suppressor gene, which has not yet been implicated in the pathogenesis of primary central nervous system lymphoma (PCNSL). Performing exome sequencing on paired blood and DNA samples from six treatment‐naïve PCNSL patients, we identified novel variants (p.N63S, p.T590M, p.T732S) that were associated with shorter progression‐free survival our cohort overall large validation lymphoid malignancies cBio Cancer Genomics Portal. WNT‐ NF‐κB‐reporter...