10 results on '"Hawkins, Cynthia"'
Search Results
2. A 3‐year‐old male with an extramedullary, intra‐ and extradural mass at T11‐L1.
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Sagga, Aziz, Mehta, Vivek, Hawkins, Cynthia, and van Landeghem, Frank K. H.
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MULTINUCLEATED giant cells ,LANGERHANS-cell histiocytosis ,NON-langerhans-cell histiocytosis ,JUVENILE xanthogranuloma ,CELL morphology - Published
- 2023
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3. An integrative molecular and genomic analysis of pediatric hemispheric low-grade gliomas: an update
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Lassaletta, Alvaro, Zapotocky, Michal, Bouffet, Eric, Hawkins, Cynthia, and Tabori, Uri
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- 2016
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4. Pediatric thalamic tumors in the MRI era: a Canadian perspective
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Steinbok, Paul, Gopalakrishnan, Chittur Viswanathan, Hengel, Alexander R., Vitali, Aleksander M., Poskitt, Ken, Hawkins, Cynthia, Drake, James, Lamberti-Pasculli, Maria, Ajani, Olufemi, Hader, Walter, Mehta, Vivek, McNeely, P. Daniel, McDonald, Patrick J., Ranger, Adrianna, Vassilyadi, Michael, Atkinson, Jeff, Ryall, Scott, Eisenstat, David D., and Hukin, Juliette
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- 2016
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5. Expression and Clinical Correlation of PD-1/PD-L1 and VE1(BRAFp.V600E) in Pediatric Langerhans Cell Histiocytosis.
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Tandon, Sneha, Weitzman, Sheila, Joyce, Brooklyn, Mcguire, Bryan, Stephens, Derek, Whitlock, James, Hawkins, Cynthia, Bo Yee Ngan, and Abla, Oussama
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LANGERHANS-cell histiocytosis ,PROGRAMMED death-ligand 1 ,PROGRAMMED cell death 1 receptors ,MUTANT proteins - Abstract
Background And Objectives: Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasm with a wide spectrum of clinical presentations. Programmed Cell Death-1 (PD- 1) receptor and its ligand (PD-L1) are overexpressed in LCH, but their clinical significance is unknown. We performed a clinical correlation study of PD-1/PD-L1 and VE1(BRAFp.V600E) expression in 131 children with LCH. Methods: A total of 111 samples were tested for PD-1/PD-L1 and 109 for VE1(BRAFp.V600E) mutant protein by immunohistochemistry. Results: PD-1, PD-L1 and VE1(BRAFp.V600E) positivity was observed in 40.5%, 31.53% and 55%, respectively. PD-1/PD-L1 expression showed no significant effect on the rate of disease reactivations, early response to therapy or late sequelae. The 5-year EFS was not statistically different between patients with PD-1 positive compared to those with PD-1 negative tumours (47.7% vs.58.8%, p=0.17). Similar 5-year EFS rates were also seen in those who were PD-L1 positive compared to PD-L1 negative cases (50.5% vs.55.5%, p=0.61). VE1(BRAFp.V600E) positivity was associated with a significantly higher frequency of risk-organ involvement (p=0.0053), but no significant effect on early response to therapy or rates of reactivations or late sequelae. Conclusions: Our study showed no significant correlation between VE1(BRAFp.V600E) expression, PD-1 and PD-L1 and clinical outcome in pediatric LCH. [ABSTRACT FROM AUTHOR]
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- 2023
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6. Management and outcome of chordomas in the pediatric population: The Hospital for Sick Children experience and review of the literature.
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Tsitouras, Vassilios, Wang, Shelly, Dirks, Peter, Drake, James, Bouffet, Eric, Hawkins, Cynthia, Laughlin, Suzanne, and Rutka, James T.
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Chordomas are tumors arising from remnants of the embryological notochord, most commonly found in the spheno-occipital, spinal, or sacro-coccygeal areas. They are rare tumors in the pediatric population and are challenging to manage due to their difficult accessibility, proximity to important anatomy and extension into adjacent structures. We report a series of 10 children treated for chordoma at The Hospital for Sick Children focusing on their surgery, adjuvant therapy and long-term outcomes. A retrospective review involving patient charts, radiographic imaging, and pathology slides was performed for 10 chordoma patients during the period from 1987–2015. Important variables, including patient demographics, chordoma location, presentation, imaging characteristics, pathology subtype, treatment options, and long-term outcome were analysed. The series consists of seven girls and three boys with cranial or upper cervical spine chordomas. One patient presented with an extradural left cerebellopontine angle chordoma demonstrating aggressive and dedifferentiated features, which, to our knowledge, has not been previously described in the literature. All patients received surgical resection followed by photon or proton radiotherapy. Four patients with chondroid or atypical pathology also received chemotherapeutic adjuvants. All patients with classical pathology achieved favourable outcome, while the four patients with atypical pathology progressed quickly despite aggressive therapy, suggesting that pathology subtype is a crucial prognostic factor. This study summarizes 30 years of surgical and adjuvant therapy experience in a large academic center for pediatric chordoma patients. Patient outcomes were dependent on pathology subtype, and a multidisciplinary approach involving surgery, radiotherapy, and chemotherapy can be considered on an individual basis. [ABSTRACT FROM AUTHOR]
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- 2016
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7. Targeted detection of genetic alterations reveal the prognostic impact of H3K27M and MAPK pathway aberrations in paediatric thalamic glioma.
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Ryall, Scott, Krishnatry, Rahul, Arnoldo, Anthony, Buczkowicz, Pawel, Mistry, Matthew, Siddaway, Robert, Ling, Cino, Pajovic, Sanja, Man Yu, Rubin, Joshua B., Hukin, Juliette, Steinbok, Paul, Bartels, Ute, Bouffet, Eric, Tabori, Uri, and Hawkins, Cynthia
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THALAMUS ,GLIOMAS - Abstract
Copyright of Acta Neuropathologica Communications is the property of BioMed Central and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2016
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8. Spatial genomic heterogeneity in diffuse intrinsic pontine and midline high-grade glioma: implications for diagnostic biopsy and targeted therapeutics.
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Hoffman, Lindsey M., DeWire, Mariko, Ryall, Scott, Buczkowicz, Pawel, Leach, James, Miles, Lili, Ramani, Arun, Brudno, Michael, Senthil Kumar, Shiva, Drissi, Rachid, Dexheimer, Phillip, Salloum, Ralph, Chow, Lionel, Hummel, Trent, Stevenson, Charles, Lu, Q. Richard, Jones, Blaise, Witte, David, Aronow, Bruce, and Hawkins, Cynthia E.
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BRAIN tumor diagnosis ,GLIOMAS ,TUMORS in children ,GENETICS ,TUMOR treatment - Abstract
Introduction: Diffuse intrinsic pontine glioma (DIPG) and midline high-grade glioma (mHGG) are lethal childhood brain tumors. Spatial genomic heterogeneity has been well-described in adult HGG but has not been comprehensively characterized in pediatric HGG. We performed whole exome sequencing on 38-matched primary, contiguous, and metastatic tumor sites from eight children with DIPG (n = 7) ormHGG (n = 1) collected using a unique MRI-guided autopsy protocol. Validation was performed using Sanger sequencing, Droplet Digital polymerase-chain reaction, immunohistochemistry, and fluorescent in-situ hybridization. Results: Median age at diagnosis was 6.1 years (range: 2.9-23.3 years). Median overall survival was 13.2 months (range: 11.2-32.2 months). Contiguous tumor infiltration and distant metastases were observed in seven and six patients, respectively, including leptomeningeal dissemination in three DIPGs. Histopathological heterogeneity was evident in seven patients, including intra-pontine heterogeneity in two DIPGs, ranging from World Health Organization grade II to IV astrocytoma. We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs. ACVR1 (n = 2), PIK3CA (n = 2), FGFR1 (n = 2), and MET (n = 1) were also intra-tumorally conserved. ACVR1 was co-mutated with HIST1H3B (n = 2). In contrast, PDGFRA amplification and mutation were spatially heterogeneous, as were mutations in BCOR (n = 1), ATRX (n = 2), and MYC (n = 1). TP53 aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved. Conclusion: Spatial conservation of prognostically-relevant and therapeutically-targetable somatic mutations in DIPG and mHGG contrasts the significant heterogeneity of driver mutations seen in adult HGG and supports uniform implementation of diagnostic biopsy in DIPG and mHGG to classify molecular risk groups and guide therapeutic strategy. [ABSTRACT FROM AUTHOR]
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- 2016
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9. Pathology, molecular genetics, and epigenetics of diffuse intrinsic pontine glioma.
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Buczkowicz, Pawel, Hawkins, Cynthia, Giles, Keith, Puliyappadamba, Vinesh, and Dunham, Chris
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MOLECULAR genetics ,EPIGENETICS ,GLIOMAS ,CHILDHOOD cancer ,ASTROCYTOMAS ,HISTONES - Abstract
Diffuse intrinsic pontine glioma (DIPG) is a devastating pediatric brain cancer with no effective therapy. Histological similarity of DIPG to supratentorial high-grade astrocytomas of adults has led to assumptions that these entities possess similar underlying molecular properties and therefore similar therapeutic responses to standard therapies. The failure of all clinical trials in the last 30years to improve DIPG patient outcome has suggested otherwise. Recent studies employing next-generation sequencing and microarray technologies have provided a breadth of evidence highlighting the unique molecular genetics and epigenetics of this cancer, distinguishing it from both adult and pediatric cerebral high-grade astrocytomas. This review describes the most common molecular genetic and epigenetic signatures of DIPG in the context of molecular subgroups and histopathological diagnosis, including this tumor entity's unique mutational landscape, copy number alterations, and structural variants, as well as epigenetic changes on the global DNA and histone levels. The increased knowledge of DIPG biology and histopathology has opened doors to new diagnostic and therapeutic avenues. [ABSTRACT FROM AUTHOR]
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- 2015
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10. Surgical outcomes in children with drug-resistant epilepsy and hippocampal sclerosis.
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Alashjaie, Ream, Kerr, Elizabeth N., AlShoumer, Azhar, Hawkins, Cynthia, Yau, Ivanna, Weiss, Shelly, Ochi, Ayako, Otsubo, Hiroshi, Krishnan, Pradeep, Widjaja, Elysa, Ibrahim, George M., Donner, Elizabeth J., and Jain, Puneet
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TEMPORAL lobectomy , *HIPPOCAMPAL sclerosis , *CHILDREN with epilepsy , *CHILDHOOD epilepsy , *FOCAL cortical dysplasia , *TEMPORAL lobe - Abstract
Hippocampal sclerosis (HS) is a common surgical substrate in adult epilepsy surgery cohorts but variably reported in various pediatric cohorts. We aimed to study the epilepsy phenotype, radiological and pathological variability, seizure and neurocognitive outcomes in children with drug-resistant epilepsy and hippocampal sclerosis (HS) with or without additional subtle signal changes in anterior temporal lobe who underwent surgery. This retrospective study enrolled children with drug-resistant focal epilepsy and hippocampal sclerosis with or without additional subtle T2-Fluid Attenuated Inversion Recovery (FLAR)/Proton Density (PD) signal changes in anterior temporal lobe who underwent anterior temporal lobectomy with amygdalohippocampectomy. Their clinical, EEG, neuropsychological, radiological and pathological data were reviewed and summarized. Thirty-six eligible patients were identified. The mean age at seizure onset was 3.7 years; 25% had daily seizures at time of surgery. Isolated HS was noted in 22 (61.1%) cases and additional subtle signal changes in ipsilateral temporal lobe in 14 (38.9%) cases. Compared to the normative population, the group mean performance in intellectual functioning and most auditory and visual memory tasks were significantly lower than the normative sample. The mean age at surgery was 12.3 years; 22 patients (61.1%) had left hemispheric surgeries. ILAE class 1 outcomes was seen in 28 (77.8%) patients after a mean follow up duration of 2.3 years. Hippocampal sclerosis was noted pathologically in 32 (88.9%) cases; type 2 (54.5%) was predominant subtype where further classification was possible. Additional pathological abnormalities were seen in 11 cases (30.6%); these had had similar rates of seizure freedom as compared to children with isolated hippocampal sclerosis/gliosis (63.6% vs 84%, p=0.21). Significant reliable changes were observed across auditory and visual memory tasks at an individual level post surgery. Favourable seizure outcomes were seen in most children with isolated radiological hippocampal sclerosis. Patients with additional pathological abnormalities had similar rates of seizure freedom as compared to children with isolated hippocampal sclerosis/gliosis. • Subtle anterior temporal signal changes were noted in 38.9% children with hippocampal sclerosis (HS). • 77.8% children became seizure free after anterior temporal lobectomy with amygdalohippocampectomy. • Overall, 30.6% cases had additional pathological abnormalities. • Seizure freedom rates of children with additional pathological abnormalities similar to those with isolated HS. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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