scholarly journals P13.04 Transcriptional profiling differentiates spinal cord ependymal tumours from other glial tumours in children

2019 ◽  
Vol 21 (Supplement_3) ◽  
pp. iii62-iii63
Author(s):  
A A Sobocińska ◽  
M Niemira ◽  
A Szałkowska ◽  
B Wojtaś ◽  
J Trubicka ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Pilocytic Astrocytoma ◽  
System Analysis ◽  
Transcriptional Profiling ◽  
Molecular Classification ◽  
Marker Genes ◽  
Myxopapillary Ependymoma ◽  
Histopathological Diagnosis ◽  
Low Grade ◽  
Rna Expression Profiling

Abstract BACKGROUND Spinal cord tumours in children include ependymal and other tumours of glial origin, all of them displaying GFAP marker. Some tumours may present difficulties in histopathological diagnosis e.g. due to intratumour heterogeneity. Therefore, molecular approach should be examined for its diagnostic usefulness. We investigated a series of originally diagnosed spinal cord ependymal tumours, using transcriptional profiling, to confirm if molecular classification is compatible with histopathological diagnosis. MATERIAL AND METHODS Overall, 9 patients diagnosed between 2001 and 2014 in The Children’s Memorial Health Institute (CMHI) in Warsaw, Poland, were included in the analysis. 4 patients were diagnosed with GI myxopapillary ependymomas, 3 patients with GII and 2 patients with GIII grade ependymal tumours. Total RNA was extracted from FFPE tumour samples using RNeasy kits (Qiagen). Transcriptional profiling was performed using NanoString nCounter system analysis. Tumours were analysed according to the manufacturer’s procedures for hybridization, detection and scanning. Raw counts for each gene underwent technical and biological normalization using nSolver software. A custom NanoString CodeSet consisted of 8 marker genes: GFAP as a glial marker, CAPS and FAM81B as the markers for ependymal tumours and OLIG1, OLIG2, PMP2, KLRC3 and C1orf61 as the markers for other gliomas. Marker genes were identified by re-analysis of publically available microarrays data from childhood brain tumour samples. Histopathological reassessment of tumour preparations was performed by two experienced neuropathologists. RESULTS Hierarchical clustering of 9 samples revealed that two tumours clustered separately and displayed low expression of ependymal markers but high expression of all other glioma markers. Subsequent histopathological re-analysis of preparation of the later 2 tumours showed that one of them displayed features of pilocytic astrocytoma with loose, microcytic and fibrillary areas accompanied by advanced myxoid degenerative changes mimicking the picture of myxopapillary ependymoma. The second tumour revealed heterogeneous morphology with areas of diffuse low grade astrocytoma, pilocytic astrocytoma and fragments displaying ependymal features, including angiocentric pattern with ependymoma-like perivascular arrangement of neoplastic cells. CONCLUSION The results of analysis indicate that RNA expression profiling from FFPE tumour samples using NanoString nCounter system may be a useful approach in differentiation of ependymal tumours from other glial tumours with misleading morphology located in the spinal cord in children. Funded by the National Science Centre, Poland (2016/21/B/NZ2/01785 and 2016/23/B/NZ2/03064).

scholarly journals Intradural extramedullary spinal cord tumours: A retrospective study of sur­ gical outcomes

2016 ◽  
Vol 9 (1) ◽  
pp. 11
Author(s):  
Md. Kamrul Ahsan ◽  
Md. Abdul Awwal ◽  
Shahidul Islam Khan ◽  
Md. Hamidul Haque ◽  
Naznin Zaman
Keyword(s):  
Spinal Cord ◽  
Surgical Excision ◽  
Clinical Results ◽  
Neurological Deterioration ◽  
Cerebrospinal Fluid Leakage ◽  
Myxopapillary Ependymoma ◽  
Histopathological Diagnosis ◽  
Preoperative Symptom ◽  
Intradural Extramedullary ◽  
Spinal Cord Tumours

<p><strong>Background:</strong> Intradural extramedullary spinal cord tumours (IESCT) accounts for approximately two thirds of all intraspinal neoplasm and are of important clinical consideration and surgery is the essence in cases with neurological deterioration.</p><p><strong>Objective:</strong> To share our experience on the outcome of surgical excision of intradural extramedullary spinal cord tumours. Methods: Results of 60 patients surgically treated intradural extramedullary spinal tumours between Octo­ber 2003 and October 2015 at Bangabandhu Sheikh Mujib Medical University and in our private settings, Dhaka, were analyzed retrospectively. There were 32 males, 28 females with an average age of 52.4 years (13-70 years) and followed up for at least a year. The preoperative symptom with duration, tumours location and intradural space occupancy and the histopathological diagnosis were analyzed. Pain was evaluated by the visual analogue scale (VAS) and the neurologic function was assessed by Nurick's grade.</p><p><strong>Results:</strong> The tumours were located as, thoracic 32 (53.33%), lumbar 16 (26.67%), cervical 04 (6.67%), and junctional 08 (13.33%), CervicoThoracic-01, Thoracolumbar-07). The histopathological diagnosis included schwannoma 35 (58.33%), meningiomas 14 (23.33%), neurofbroma 4 (6.67%), arachnoid cyst and myxopapillary ependymoma 03 (05.00%) each and paraganglioma 01 (01.67%). The VAS score was reduced in all cases from 8.0 ± 1.2 to 1.2 ± 0.8 (p &lt; 0.003) and the Nurick's grade was improved in all cases from 3.0 ± 1.3 to 1.0 ± 0.0 (p &lt; 0.005). The preoperative neurological deficit improved within 8 postoperative weeks in most cases and within 1 postoperative year in all cases. Complications included cerebrospinal fluid leakage, parasthesia, dependant bedsore 02 (3.33%) each and recurrence 03 (05.00%). and further neurological deterioration 1 (01.67%) case.</p><p><strong>Conclusion:</strong> lntradural extramedullary tumors detected by MRI are mostly benign and good clinical results can be obtained when treated surgi­cally. Aggressive surgical excision potentially minimizes neurologic morbidity and improved outcome. ­</p>

Trends in the diagnosis and treatment of pediatric primary spinal cord tumors

2012 ◽  
Vol 10 (6) ◽  
pp. 555-559 ◽  
Author(s):  
Melanie G. Hayden Gephart ◽  
Robert M. Lober ◽  
Robert T. Arrigo ◽  
Corinna C. Zygourakis ◽  
Raphael Guzman ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Pilocytic Astrocytoma ◽  
Survival Rates ◽  
Relative Survival ◽  
Diagnosis And Treatment ◽  
External Beam Radiation ◽  
Low Grade ◽  
Spinal Cord Tumors ◽  
Beam Radiation ◽  
Over Time

Object Pediatric primary spinal cord tumors (PSCTs) are rare, with limited comprehensive data regarding incidence and patterns of diagnosis and treatment. The authors evaluated trends in the diagnosis and treatment of PSCTs using a nationwide database. Methods The Surveillance, Epidemiology, and End Results (SEER) registry was queried for the years 1975–2007, evaluating clinical patterns in 330 patients 19 years of age or younger in whom a pediatric PSCT had been diagnosed. Histological diagnoses were grouped into pilocytic astrocytoma, other low-grade astrocytoma, ependymoma, and high-grade glioma. Patient demographics, tumor pathology, use of external beam radiation (EBR), and overall survival were analyzed. Results The incidence of pediatric PSCT was 0.09 case per 100,000 person-years and did not change over time. Males were more commonly affected than females (58% vs 42%, respectively; p < 0.006). Over the last 3 decades, the specific diagnoses of pilocytic astrocytoma and ependymoma increased, whereas the use of EBR decreased (60.6% from 1975 to 1989 vs 31.3% from 1990 to 2007; p < 0.0001). The 5- and 10-year survival rates did not differ between these time periods. Conclusions While the incidence of pediatric PSCT has not changed over time, the pattern of pathological diagnoses has shifted, and pilocytic astrocytoma and ependymoma have been increasingly diagnosed. The use of EBR over time has declined. Relative survival of patients with low-grade PSCT has remained high regardless of the pathological diagnosis.

Lipomeningocele associated with diplomyelia in a dog

2018 ◽  
Vol 46 (05) ◽  
pp. 323-329 ◽  
Author(s):  
Nele Ondreka ◽  
Sara Malberg ◽  
Emma Laws ◽  
Martin Schmidt ◽  
Sabine Schulze
Keyword(s):  
Spinal Cord ◽  
Neurological Status ◽  
Split Cord Malformation ◽  
Lumbar Spinal Cord ◽  
Histopathological Diagnosis ◽  
Type I ◽  
Thoracic Spinal Cord ◽  
Thoracic Spinal ◽  
Subcutaneous Mass ◽  
Lumbar Spinal

SummaryA 2-year-old male neutered mixed breed dog with a body weight of 30 kg was presented for evaluation of a soft subcutaneous mass on the dorsal midline at the level of the caudal thoracic spine. A further clinical sign was intermittent pain on palpation of the area of the subcutaneous mass. The owner also described a prolonged phase of urination with repeated interruption and re-initiation of voiding. The findings of the neurological examination were consistent with a lesion localization between the 3rd thoracic and 3rd lumbar spinal cord segments. Magnetic resonance imaging revealed a spina bifida with a lipomeningocele and diplomyelia (split cord malformation type I) at the level of thoracic vertebra 11 and 12 and secondary syringomyelia above the aforementioned defects in the caudal thoracic spinal cord. Surgical resection of the lipomeningocele via a hemilaminectomy was performed. After initial deterioration of the neurological status postsurgery with paraplegia and absent deep pain sensation the dog improved within 2 weeks to non-ambulatory paraparesis with voluntary urination. Six weeks postoperatively the dog was ambulatory, according to the owner. Two years after surgery the owner recorded that the dog showed a normal gait, a normal urination and no pain. Histopathological diagnosis of the biopsied material revealed a lipomeningocele which confirmed the radiological diagnosis.

Atypical pilocytic astrocytoma of adult spinal cord: A case report

2018 ◽  
pp. 1-2
Keyword(s):  
Spinal Cord ◽  
Young Adults ◽  
Case Report ◽  
Pilocytic Astrocytoma ◽  
Treatment Protocol ◽  
Pilomyxoid Astrocytoma ◽  
Standardized Treatment ◽  
Children And Young Adults ◽  
Adult Spinal Cord

Pilomyxoid astrocytoma (PMA) is an atypical subtype of pilocytic astrocytoma (PA), which presents in children and young adults. The incidence of PMA is low, so there is no standardized treatment protocol for it. Here, we present a 62-year-old woman with recurrent PMA, which is important for the understanding and treatment of the disease.

MOLECULAR AND GENETIC SUBTYPES OF OVARIAN CANCER: PROSPECTS FOR FURTHER STUDIES

2019 ◽  
Vol 65 (1) ◽  
pp. 56-62
Author(s):  
Alisa Villert ◽  
Larisa Kolomiets ◽  
Natalya Yunusova ◽  
Yevgeniya Fesik
Keyword(s):  
Ovarian Cancer ◽  
Ovarian Carcinoma ◽  
Molecular Subtypes ◽  
Survival Rates ◽  
Consensus Algorithm ◽  
Histopathological Diagnosis ◽  
Low Grade ◽  
High Grade ◽  
Ovarian Carcinomas ◽  
Genetic Subtypes

High-grade ovarian carcinoma is a histopathological diagnosis, however, at the molecular level, ovarian cancer represents a heterogeneous group of diseases. Studies aimed at identifying molecular genetic subtypes of ovarian cancer are conducted in order to find the answer to the question: can different molecular subgroups influence the choice of treatment? One of the achievements in this trend is the recognition of the dualistic model that categorizes various types of ovarian cancer into two groups designated high-grade (HG) and low-grade (LG) tumors. However, the tumor genome sequencing data suggest the existence of 6 ovarian carcinoma subtypes, including two LG and four HG subtypes. Subtype C1 exhibits a high stromal response and the lowest survival. Subtypes C2 and C4 demonstrate higher number of intratumoral CD3 + cells, lower stromal gene expression and better survival than sybtype C1. Subtype C5 (mesenchymal) is characterized by mesenchymal cells, over-expression of N-cadherin and P-cadherin, low expression of differentiation markers, and lower survival rates than C2 and C4. The use of a consensus algorithm to determine the subtype allows identification of only a minority of ovarian carcinomas (approximately 25%) therefore, the practical importance of this classification requires additional research. There is evidence that it makes sense to randomize tumors into groups with altered expression of angiogenic genes and groups with overexpression of the immune response genes, as in the angiogenic group there is a comparative superiority in terms of survival. The administration of bevacizumab in the angiogenic group improves survival, while the administration of bevacizumab in the immune group even worsens the outcome. Molecular subtypes with worse survival rates (proliferative and mesenchymal) also benefit most from bevacizumab treatment. This review focuses on some of the advances in understanding molecular, cellular, and genetic changes in ovarian carcinomas with the results achieved so far regarding the formulation of molecular subtypes of ovarian cancer, however further studies are needed.

scholarly journals Domain Mapping and Deep Learning from Multiple MRI Clinical Datasets for Prediction of Molecular Subtypes in Low Grade Gliomas

2020 ◽  
Vol 10 (7) ◽  
pp. 463 ◽  
Author(s):  
Muhaddisa Barat Ali ◽  
Irene Yu-Hua Gu ◽  
Mitchel S. Berger ◽  
Johan Pallud ◽  
Derek Southwell ◽  
...  
Keyword(s):  
Molecular Subtypes ◽  
Negative Impact ◽  
Molecular Classification ◽  
Tumor Segmentation ◽  
Test Accuracy ◽  
Low Grade ◽  
Idh Mutation ◽  
Molecular Type ◽  
Low Grade Gliomas ◽  
Domain Mapping

Brain tumors, such as low grade gliomas (LGG), are molecularly classified which require the surgical collection of tissue samples. The pre-surgical or non-operative identification of LGG molecular type could improve patient counseling and treatment decisions. However, radiographic approaches to LGG molecular classification are currently lacking, as clinicians are unable to reliably predict LGG molecular type using magnetic resonance imaging (MRI) studies. Machine learning approaches may improve the prediction of LGG molecular classification through MRI, however, the development of these techniques requires large annotated data sets. Merging clinical data from different hospitals to increase case numbers is needed, but the use of different scanners and settings can affect the results and simply combining them into a large dataset often have a significant negative impact on performance. This calls for efficient domain adaption methods. Despite some previous studies on domain adaptations, mapping MR images from different datasets to a common domain without affecting subtitle molecular-biomarker information has not been reported yet. In this paper, we propose an effective domain adaptation method based on Cycle Generative Adversarial Network (CycleGAN). The dataset is further enlarged by augmenting more MRIs using another GAN approach. Further, to tackle the issue of brain tumor segmentation that requires time and anatomical expertise to put exact boundary around the tumor, we have used a tight bounding box as a strategy. Finally, an efficient deep feature learning method, multi-stream convolutional autoencoder (CAE) and feature fusion, is proposed for the prediction of molecular subtypes (1p/19q-codeletion and IDH mutation). The experiments were conducted on a total of 161 patients consisting of FLAIR and T1 weighted with contrast enhanced (T1ce) MRIs from two different institutions in the USA and France. The proposed scheme is shown to achieve the test accuracy of 74 . 81 % on 1p/19q codeletion and 81 . 19 % on IDH mutation, with marked improvement over the results obtained without domain mapping. This approach is also shown to have comparable performance to several state-of-the-art methods.

scholarly journals LGG-23. EXCELLENT CLINICAL / RADIOLOGICAL RESPONSE TO BRAF INHIBITION IN A YOUNG CHILD WITH IN-OPERABLE SUPRA-SELLAR PILOCYTIC ASTROCYTOMA

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii370-iii371
Author(s):  
Stacy Chapman ◽  
Demitre Serletis ◽  
Colin Kazina ◽  
Mubeen Rafay ◽  
Sherry Krawitz ◽  
...  
Keyword(s):  
Targeted Therapy ◽  
Pilocytic Astrocytoma ◽  
Clinical Symptoms ◽  
Obstructive Hydrocephalus ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Low Grade ◽  
Dramatic Improvement ◽  
Chemotherapeutic Regimen ◽  
Response To Chemotherapy

Abstract In-operable low grade gliomas (LGG) in the pediatric population continue to present a treatment dilemma. Due to the low-grade nature of these tumors, and variable response to chemotherapy / radiation, the choice of adjuvant treatment is difficult. Overall survival is directly related to the degree of surgical resection, adding complexity to these inoperable tumors. Current chemotherapeutic regimen for these inoperable tumors includes vincristine (VCR) and carboplatin (Carbo). With advancements in the molecular characterization of gliomas, the role of targeted therapy has come into question. We present a 2-year-old female with biopsy proven Pilocytic Astrocytoma (positive BRAF-V600E mutation) involving the hypothalamic/optic chiasm region. She presented with ataxic gait, bi-temporal hemianopia, obstructive hydrocephalus and central hypothyroidism, which progressed to altered consciousness, and right hemiparesis due to location/mass effect of the tumor. She was initially treated with chemotherapy (VCR/Carbo) but her tumor progressed at 6 weeks of treatment. As her tumor was positive for BRAF-V600E mutation, she was started on Dabrafenib monotherapy, resulting in dramatic improvement in her clinical symptoms (able to stand, improved vision), and a 60% reduction in tumor size at 3-months. At 6-months, follow up MRI showed slight increase in the solid portion of the tumor, with no clinical symptoms. We plan to add MEK inhibitor (Trametinib) and continue with Dabrafenib. Our experience and literature review suggests that LGG with BRAF-V600E mutations may benefit from upfront targeted therapy. Prospective clinical trials comparing the efficacy of BRAF inhibitors versus standard chemotherapy in LGG with BRAF mutations are urgently needed.

scholarly journals Psychooncological distress in low-grade glioma patients—a monocentric study

2021 ◽  
Author(s):  
Alessandra Ley ◽  
Marcel Kamp ◽  
Christiane von Sass ◽  
Daniel Hänggi ◽  
Michael Sabel ◽  
...  
Keyword(s):  
Depression Scale ◽  
Sociodemographic Factors ◽  
Low Grade Glioma ◽  
Screening Tools ◽  
Histopathological Diagnosis ◽  
Low Grade ◽  
Distress Screening ◽  
Clinical Trial Registration ◽  
Eortc Qlq C30 ◽  
Eortc Qlq

Summary Background Patients diagnosed with low-grade glioma (LGG) must live with constant knowledge of an upcoming malignant tumor transformation which may lead to increased anxiety and reduced quality of life. Here, we (1) analyzed the prevalence and risk factors for distress in LGG patients using (2) different screening tools to subsequently (3) evaluate their need for psychological support. Method Patients with LGG-suspicious findings in MRI studies as well as patients with histopathological confirmed LGG were screened using three established self-assessment instruments (Hospital Anxiety and Depression Scale, Distress Thermometer, EORTC-QLQ-C30-BN20). Screening results were correlated with sociodemographic factors. Results One hundred forty-nine patients (74 men and 75 women) were prospectively included. Patients were further divided into different subgroups regarding the time of screening and diagnosis. An increased level of distress was observed in 20.8% (mean score 1.21, 95% CI 1.15–1.28) of all patients screened by HADS. Significant associated factors were pre-existing psychiatric disorders (p = 0.003) and psychotropic medication (p = 0.029). HRQoL (p = 0.022) and global health item (p = 0.015), as well as future uncertainty (p = 0.047), assessed by the EORTC-QLQ-C30-BN20 were significantly higher in those patients without histopathological diagnosis. Increased distress was significantly correlated with results in chosen sub-items of the HRQoL questionnaire (p < 0.001). Conclusions Our results demonstrate the need for frequent distress screening. If specific tools are not available, HRQoL questionnaires can also be used. Patients with pre-existing psychological stress should be offered additional psychooncological support, irrespectively of the time of screening or tumor diagnosis. Clinical trial registration number: 4087

scholarly journals RADT-29. EFFECT OF RADIATION THERAPY ON OVERALL SURVIVAL FOLLOWING SUBTOTAL RESECTION OF ADULT PILOCYTIC ASTROCYTOMA

2020 ◽  
Vol 22 (Supplement_2) ◽  
pp. ii187-ii188
Author(s):  
Adham Khalafallah ◽  
Adrian Jimenez ◽  
Henry Brem ◽  
Debraj Mukherjee
Keyword(s):  
Overall Survival ◽  
Radiation Therapy ◽  
Pilocytic Astrocytoma ◽  
Radiation Treatment ◽  
Cox Proportional Hazards Model ◽  
Adult Patients ◽  
Subtotal Resection ◽  
Adjuvant Radiation ◽  
Low Grade ◽  
Risk Of Death

Abstract BACKGROUND Pilocytic astrocytoma (PCA) is a low-grade glioma common in children but also rarely diagnosed in adults. The role of adjuvant radiation therapy (RT) in treating these tumors remains unclear. OBJECTIVE We investigated the effect of RT on overall survival, specifically among adult patients who had undergone subtotal PCA resection. METHODS Information on adult patients (age 18 years old) who had undergone subtotal PCA resection between 2004 and 2016 was collected from the National Cancer Database (NCDB). A multivariate Cox proportional hazards model was utilized to determine factors independently associated with overall survival. RESULTS A total of 451 patients were identified. The mean age of our patient cohort was 36.8 years old, and the majority of patients (83.4%) did not receive radiation treatment following subtotal PCA resection. Overall median survival was 93.8 months. Survival was longer (p &lt; 0.001) in the patients who did not receive post-surgical RT (median: 98.3 months) compared to patients who did (median: 54.8 months). Patients who had older age at diagnosis (hazard ratio [HR]=1.05, 95% confidence interval [CI]=1.03-1.07, p &lt; 0.01), were Black or African American (HR=2.76, CI=1.12-6.46, p=0.019), received radiation during their initial treatment (HR=4.53, CI=2.08-9.89, p &lt; 0.01), or had a Charlson/Deyo score of &gt; 1 (HR=3.68, CI=1.55, p=0.003) had a significantly higher risk of death following subtotal PCA resection. CONCLUSION Postoperative RT is independently associated with a significantly higher risk of death among adults who underwent subtotal PCA resection. Our findings provide a rationale for further investigation into the efficacy and safety of RT within this patient population.

scholarly journals Pilocytic Midbrain Astrocytoma Presenting with Fresh Bleed after Twenty-one-years Survival Following First Surgery: A Unique Case of Longest Brainstem Glioma Survival

2016 ◽  
Vol 07 (S 01) ◽  
pp. S088-S090 ◽  
Author(s):  
Guru Dutta Satyarthee ◽  
M. D. Sudhan ◽  
V. S. Mehta
Keyword(s):  
Gamma Knife ◽  
Pilocytic Astrocytoma ◽  
Brainstem Glioma ◽  
Prolonged Survival ◽  
Histopathological Diagnosis ◽  
Large Tumor ◽  
Who Grade ◽  
Mri Brain ◽  
First Case ◽  
Gamma Knife Therapy

ABSTRACTBrainstem glioma usually carries a poor prognosis and prolonged survival is very infrequent. In a detailed Pubmed, Medline search for prolonged survival, authors could got a longest survival only up to seventeen years, reported by Umehara et al, who was subjected to gamma knife therapy and got symptomatic, MRI brain reveled large tumor growth during pregnancy necessitating emergency surgery and histopathological diagnosis was pilocytic astrocytoma. Authors report an interesting case of midbrain glioma diagnosed 21 years back, who underwent gross resection in the year 1993, histopathology was pilocytic astrocytoma, WHO grade I, and received gamma knife surgery for residual subsequently and he presented with sudden onset left sided hemiplegia on the current admission. The cranial MRI imaging revealed an infarct involving right hemi midbrain, contrast MRI brain revealed no residual glioma. To the best knowledge of authors such prolonged survival is not reported with a case of brainstem glioma survived twenty- one years with non residual tumor on the last imaging study represents first case of its kind in the western literature and probably developed hemiplegia due to bleed, highlighting bleed as delayed complication following gamma knife therapy for cranial tumors

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