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Elisabeth J Rushing

Publications and source records attributed to Elisabeth J Rushing.

At least 19 recordsLinked to original sources
PubMed2007

MR and CT imaging of 24 pleomorphic xanthoastrocytomas (PXA) and a review of the literature.

INTRODUCTION: The aim of our study was to review the imaging appearance of PXA, a rare and usually low-grade, astrocytic tumor that typically occurs in young adults. METHODS: The clinical presentation, location and imaging findings on CT (n = 15) and MR (n = 18) of 24 pathologically confirmed PXA were retrospectively reviewed. Two morphologic patterns were defined according to imaging features. The Mann-Whitney U-test was used for statistical analysis of the data. RESULTS: All the neoplasms were supratentorial and superficial in location with obvious leptomeningeal contact in 22 patients, although leptomeningeal enhancement was demonstrated in only 3. Common locations were temporal (42%), frontal (33%) and parietal (21%), and more than one lobe was involved in 21% of patients. On CT without contrast enhancement, PXA was an iso- or hypoattenuating mass, and calcification was seen in six tumors and inner table remodeling was seen in three patients younger than 12 years. On MR, the solid component of PXA was isointense relative to gray matter on T1-weighted images, hyperintense on T2-weighted images in more than 90% and enhanced intensely following intravenous contrast material administration. Cystic areas showed hyperintensity relative to CSF. Two imaging patterns were differentiated: first a cystic mass containing a mural nodule (70%) and second a predominantly solid mass that may show cystic changes (30%). CONCLUSION: The most consistent imaging features of PXA were a superficial location, leptomeningeal contact, and enhancement of the solid component. Apart from the classical PXA appearance of a cystic lesion with an enhancing mural nodule, a second pattern consisting of a predominantly solid mass was recognized.

Adolescent↗
PubMed2006

Oligodendroglioma with neurocytic differentiation versus atypical extraventricular neurocytoma: a case report of unusual pathologic findings of a spinal cord tumor.

Differentiating oligodendroglioma from extraventricular neurocytoma by conventional light microscopy alone can present a diagnostic challenge. We report pathologic findings of an unusual spinal cord tumor from a 33-year-old male patient which showed hybrid features of oligodendroglioma and extraventricular neurocytoma. Magnetic resonance imaging (MRI) showed an enhancing intramedullary mass in the cervicothoracic region (C7 through T6). Histologic examination revealed a clear cell neoplasm containing ganglion-like cells and calcifications, prompting the differential diagnosis of oligodendroglioma and extraventricular neurocytoma. The immunohistochemical analysis disclosed neural differentiation of the neoplastic cells with strong synaptophysin and neurofilament staining consistent with extraventricular neurocytoma, as well as strong S-100 and glial fibrillary acidic protein (GFAP) expression. Molecular studies with fluorescent in situ hybridization (FISH) revealed chromosome 1p/(partial) 19q deletions, a finding commonly observed in oligodendroglioma. The proliferation index (using antibody MIB1) of the tumor was approximately 30%. The morphologic findings and these results strengthen the hypothesis that these tumors may share a common progenitor cell, which has also been observed by others. Because there are differences in patient management and long-term prognosis, it is important to attempt to distinguish between oligodendroglioma and neurocytoma. This unusual case and similar rare reported cases support the need to reclassify tumors showing pathologic features common to both neurocytoma and oligodendroglioma as a unique entity, while the effort continues to identify the cell of origin.

Adult↗
PubMed2006

Retinoschisin expression and localization in rodent and human pineal and consequences of mouse RS1 gene knockout.

PURPOSE: The pineal gland shares a common neuroectoderm origin with the retina, and like the retina, regulates circadian rhythms through melatonin secretion. Recent expressed tag sequence (EST) analysis showed that several gene mutations, including RS1, which cause retinal degeneration, are also expressed in the pineal gland. Mutations in RS1 result in structural delamination of the neural retinal layers, leading to formation of schisis cavities in men affected with "X-linked retinoschisis" (XLRS). In this study, we evaluated RS1 expression in the rat and mouse as well as in human pineal and looked for morphological changes in the pineal of the RS1 knockout (RS1(-/Y)) mouse. METHODS: We analyzed rat and mouse pineal for RS1 expression by Northern blot and in situ hybridization. RS protein, synaptophysin, S-100, and GFAP localization in the pineal of rat and mouse and RS protein in human pineal were evaluated immunohistochemically. Morphological studies were performed using transmission electron microscopy and light microscopy comparing wild-type to the RS1(-/Y) mouse. RESULTS: RS1 expression was detected in RNA isolated from both the pineal and retina as a single major band migrating at about 5.5 kbp in Northern blots. RS1 riboprobe in situ hybridization demonstrated message in rat and mouse pineal, and immunohistochemistry showed RS protein in pinealocytes expressing synaptophysin but not in interstitial GFAP- and S100-positive glial cells. RS protein was present in many pinealocytes in human pineal. In light and electron microscopic examination of the pineal gland from RS1(-/Y) mice none of the structural changes found in the retina, such as cavity formation and loosening of the tissue, were seen. CONCLUSIONS: This study demonstrates that RS protein is expressed in the pinealocytes but not in interstitial glial cells. The lack of structural abnormalities in the RS1(-/Y) mice suggests that RS serves a different function in the pineal gland than in the retina.

Animals↗
PubMed2006

Trimyelia with divergent cord pathways and three foramina magni.

OBJECT: We report the rare finding of trimyelia with divergent cord pathways in a 33 5/7-week-old fetus who died shortly after spontaneous vaginal delivery. METHODS: The main autopsy findings were three separate and distinct spinal cords, arising from the medulla and exiting through three separate foramina magni. The two lateral cords coursed toward each upper extremity and the medulla split into two halves that rejoined to form a central cervical cord. Further evaluation of this anomaly revealed agenesis of the cerebellar vermis and cystic dilation of the fourth ventricle. Microscopic cross-sections of the two lateral cords demonstrated well-formed central canals, white matter, and central gray with motor neurons. Sections of the abnormal mid-cervical cord demonstrated abnormally structured cord parenchyma without central canals. CONCLUSIONS: Some features were consistent with iniencephaly; however, defects of the occipital bone, anterior spina bifida, and shortening of the spinal cord were absent. Although agenesis of the cerebellar vermis and cystic dilation of the fourth ventricle indicate Dandy-Walker syndrome, other features such as hydrocephalus, agenesis of the corpus callosum, infundibular hamartomas, and malformations of the inferior olives or an occipital encephalocele were absent. The possible pathogenesis of this intriguing pathological entity is briefly discussed.

Brain↗
PubMed2006

Proteomic analysis of inclusion body myositis.

Sporadic inclusion body myositis (IBM) is the most frequently acquired inflammatory myopathy of late adult life, yet its diagnostic criteria and pathogenesis remain poorly defined. Because effective treatment is lacking, research efforts have intensified to identify specific markers for this debilitating disorder. In this study, proteomic analysis of 4 cases of sporadic IBM was compared with 5 cases of inflammatory myopathy without clinicopathologic features of IBM to distinguish the IBM-specific proteome. Proteins were separated by 2-dimensional polyacrylamide gel electrophoresis and profiled by mass spectrometric sequencing. Expression of most proteins remained unchanged; however, 16 proteins were upregulated and 6 proteins were downregulated in IBM compared with cases of non-IBM inflammatory myopathy. These IBM-specific proteins included apolipoprotein A-I, amyloid beta precursor protein, and transthyretin, which have been associated with amyloidosis; superoxide dismutase, enolase, and various molecular chaperones indicate perturbations in detoxification, energy metabolism, and protein folding, respectively. The IBM-downregulated proteins mainly serve as carriers for muscle contraction and other normal muscle functions. We further applied Western blot and immunohistochemistry to verify the proteomic findings. This study validates proteomics as a powerful tool in the study of muscle disease and indicates a unique pattern of protein expression in IBM.

Aged↗
PubMed2006

Evaluation of RB gene and cyclin-dependent kinase inhibitors P21 and P27 in pleomorphic xantoastrocytoma.

Pleomorphic xantoastrocytoma (PXA) is a rare, circumscribed astrocytic tumor that usually occurs in the superficial cerebral hemispheres in children and young adults. Most patients have a favorable prognosis, but recurrence and malignant transformation have been reported. In diffuse gliomas, approximately one third demonstrate mutations of the RB gene. Low expression level and high activity of p27 are known to constitute an independent prognostic factor in patients with malignant gliomas, while p21 expressions have variable labeling ranges. The molecular and genetic basis for tumorigenesis and progression of PXA are still largely unknown. In this study, 13 PXAs were examined immunohistochemically for pRb, p21, and p27 expression. Nine PXAs expressed homogeneous pRb positivity in the most nuclei of the tumor cells. Four cases showed an abnormal pRb staining pattern. All PXAs were positive for nuclear expression of p21. Diffuse nuclear positivity of p27 was seen in 10 cases, focal in 2, and in 1 case was not present. The cases with focal and negative p27 nuclear expression had few pRb-positive nuclei. The majority of PXAs appear to have preserved pRb, p21, and p27 functions. Additional studies are necessary to investigate whether cases with altered pRb and p27 expressions are associated with increased risk of recurrence or malignant transformation.

Astrocytoma↗
PubMed2006

Germinoma: unusual imaging and pathological characteristics. Report of two cases.

Primary germ cell neoplasms of the central nervous system typically develop as midline mass lesions during the first three decades of life. The authors present two cases with atypical clinicopathological features that stimulate discussion on the diagnosis and management of these tumors. The first patient was an 11-year-old boy of Japanese-American heritage who presented with a 6-month-long history of cognitive decline, difficulty swallowing, unsteady gait, and intermittent right-sided posturing. The initial magnetic resonance (MR) image of the brain displayed a mildly increased T2 signal in the cerebral peduncles, putamen, and globus pallidus bilaterally. Follow-up MR images showed an increase in the T2 signal abnormality in the left basal ganglia. The second patient was a 10-year-old Caucasian boy who presented with diabetes insipidus and subsequently displayed progressive fatigue, involuntary eye and mouth movements, and obsessive-compulsive behavior. An MR image demonstrated signs of mineral deposition and foci of increased T2 signal in both basal ganglia. Follow-up MR images demonstrated a progressive increase in the T2 signal (which was then located within the mesial temporal lobe). A biopsy performed on the left thalamic lesion in the first patient revealed a germinoma. The patient was treated with chemotherapy and died 2 years later. The second patient underwent a lumbar puncture, which demonstrated an elevated level of beta-human chorionic gonadotropin. Despite the lack of a mass on MR images in this child, the need for a tissue diagnosis prompted the authors to perform an anterior temporal lobectomy. The diagnosis of diffuse germinoma was confirmed, and the patient was treated with adjunctive chemotherapy. Although uncommon, germ cell tumors can present outside the midline and exhibit a multifocal growth pattern.

Basal Ganglia↗
PubMed2005

Supratentorial extraventricular ependymal neoplasms: a clinicopathologic study of 32 patients.

BACKGROUND: Published research on the clinicopathologic features of extraventricular ependymal neoplasms of the cerebral hemispheres has been scant. METHODS: Thirty-two archival cases were studied to investigate the prognostic impact of clinicopathologic parameters including flow cytometry, the proliferation (Ki-67) labeling index, and p53 expression. RESULTS: Among these 32 cases were 2 subependymomas, 19 ependymomas, and 11 anaplastic ependymomas. No significant gender predilection was observed, and 45% of patients were in their second or third decade of life. The left cerebral hemisphere was 1.5 times more commonly involved. On available imaging studies, lesions were often cystic, with or without a mural nodule. Tumors expressed glial fibrillary acidic protein (87%), S-100 protein (77%), cytokeratin (43%), and epithelial membrane antigen (17%). Ki-67 proliferation index paralleled tumor grade. Immunoreactivity for p53 protein was observed in the 2 cases of subependymoma, in 10 of 11 anaplastic ependymomas, and in 6 of 17 ependymomas. Flow cytometry performed in 27 tumors revealed diploidy in 20 cases and aneuploidy in 4 cases (3 anaplastic and 1 classic ependymomas), with S-phase fraction ranging from 0.2-9.7. Eleven subjects were additionally treated with radiotherapy, and 3 with chemotherapy. Follow up was available in 25 (78%) patients. CONCLUSIONS: The results of the current study suggest that there is no significant relation between histopathology, Ki-67 proliferation index, p53 immunolabeling, tumor ploidy, and biologic behavior.

Adolescent↗
PubMed2005

Analysis of chromosome 7 in adult and pediatric ependymomas using chromogenic in situ hybridization.

Few studies have yielded reliable data that distinguish between ependymal neoplasms based on molecular genetic attributes. The present study utilizes chromogenic in situ hybridization (CISH), a relatively recent hybridization technique, to retrospectively examine chromosome 7-copy number in pediatric and adult ependymomas. Of the 27 hybridizations, polysomy of chromosome 7 was detected in 10 out of 15 (66%) adult ependymomas, and in only three out of 12 (25%) pediatric lesions. All myxopapillary ependymomas showed polysomy. The remaining tumors were diploid. The authors conclude that (1) there are distinct genetic subsets of ependymoma, in particular, increases in copy number of chromosome 7 are almost exclusively found in myxopapillary ependymoma, and that (2) CISH is a rapid and sensitive method of stratifying morphological variants of ependymoma and potentially other central nervous system (CNS) tumors. These results encourage further investigations with CISH on a larger scale to determine its merit as an ancillary diagnostic and prognostic tool.

Adult↗
PubMed2005

Central nervous system meningiomas in the first two decades of life: a clinicopathological analysis of 87 patients.

OBJECT: The occurrence of meningiomas in children younger than 20 years of age is rare, accounting for less than 3% of all childhood tumors of the central nervous system. The authors of this study sought to add to the limited available information regarding clinicopathological factors that influence outcome, disease progression, and survival in children with meningiomas. METHODS: Eighty-seven cases of childhood meningiomas were identified and classified according to World Health Organization (WHO) 2000 criteria. In addition to the WHO classification, the following potential prognostic factors were analyzed: age, sex, extent of resection, history of radiotherapy, diagnosis of neurofibromatosis Type 2 (NF2) or other inherited syndromes, and the presence of a comorbidity. There was a sex predilection for male patients (35 females and 52 males). Patient age ranged from 5 months to 20 years (mean 14 years). The most common clinical presentations were seizures (33%), headaches (13%), ataxia (10%), and hemiparesis (10%). Nine patients had NF2 and two had Gorlin syndrome. Seven patients had undergone radiotherapy for a prior neoplasm. Tumor location was supratentorial in 64% of the patients, infratentorial in 16%, intraventricular in 12%, and spinal in 8%. Fifty-three patients (62%) underwent gross-total resection and 28 (33%) underwent subtotal resection. Histopathological analysis revealed 62 (71%) WHO Grade I, 21 (24%) Grade II, and four (5%) Grade III meningiomas. One patient received adjuvant chemotherapy and four received radiotherapy. CONCLUSIONS: Using survival data from this unique patient cohort, the authors found that recurrence-free survival time was significantly related to WHO grade (p = 0.002), but overall survival time was not significantly linked to any of the potential prognostic factors considered in this study (p = 0.06).

Adolescent↗
PubMed2004

Human cerebral infarct: a proposed histopathologic classification based on 137 cases.

We studied the microscopic features of 137 cases of human cerebral infarct. In each case, the age of the lesion was determined by measuring the time elapsed between initial clinical presentation and date of surgery or death. Multiple microscopic variables were analyzed on hematoxylin and eosin-stained sections. There were 104 (76%) male and 33 (24%) female patients with a median age of 64 years. The location of the infarcts included 129 cerebral, 5 cerebellar, and 1 each in the pons, midbrain and medulla. The age of the lesions ranged from 1 day to 53 years. All lesions were single and varied from lacunes to large infarcts in the distribution of one or more cerebral arteries. Key histologic features of the proposed classification are as follows: (1) phase of acute neuronal injury (11 cases studied), age 1-2 days, characterized by the presence of neuronal changes, and spongiosis of the neuropil and absence of neuronal ferrugination, chronic inflammation, macrophages, neo-vascularization and cavitation; (2) phase of organization subdivided into: (a) phase of acute inflammation (31 cases), age 3-37 days, characterized by coagulative necrosis, and frequent acute inflammation, and (b) phase of chronic inflammation (57 cases), age 10 days-53 years, characterized by the presence or absence of coagulative necrosis, neuronal injury, red neurons, macrophages, mononuclear inflammatory cells, perivascular cuffing, cavitation, gliosis, spheroids; absence of neutrophils; and (3) phase of resorption (38 cases), age 26 days-23 years, characterized by absence of an inflammatory response. Neuronophagia is not a feature of cerebral infarcts.

Adolescent↗
PubMed2004

Erdheim-Chester disease of the brain: cytological features and differential diagnosis of a challenging case.

Erdheim-Chester disease (ECD) is an uncommon, systemic xanthogranulomatous disorder, with distinct clinicopathological features, that is rarely expected preoperatively. We describe a case that presented in the brain of a 26-yr-old male patient and clinically mimicked the appearance of a neoplasm. The final diagnosis was a surprise. In retrospect, the diagnosis was suggested by the intraoperative "squash" preparations, which demonstrated a mixed cellular proliferation of lymphohistiocytic elements and large, multinucleated cells with vesicular nuclei, prominent nucleoli, and abundant cytoplasm. To the best of our knowledge, this is the first report detailing the cytopathological features of ECD.

Adult↗
PubMed2004

Basic pathology of the peripheral nerve.

Peripheral nerve pathology encompasses a complex array of disease processes that are poorly understood. This article provides a substrate for communication between pathologists and radiologists who are involved in the diagnosis and treatment of patients with peripheral neuropathy. The article is organized into sections on normal histology, routine morphologic techniques used in the study of peripheral nerve, and the basic disease patterns, followed by a brief discussion of selected neuropathies.

Axons↗
PubMed2004

Physiology and gene expression characteristics of carcinogen-initiated and tumor-transformed glial progenitor cells derived from the CNS of methylnitrosourea (MNU)-treated Sprague-Dawley rats.

Glial progenitors from the brain of normal adult Sprague-Dawley rats were compared to their initiated and malignant counterparts that were isolated from apparently normal brains of animals exposed to methylnitrosourea (MNU). Fibroblast growth factor-2 (FGF-2) or platelet-derived growth factor (PDGF)-A or -B induced differentiation of normal progenitors to a pro-astrocytic or oligodendrocytic morphology, respectively, whereas the combination of these factors resulted in their terminal differentiation to oligodendrocytes and senescence. In contrast, initiated progenitors did not exit the cell cycle when stimulated with PDGF and/or FGF-2. cDNA oligoarray analysis and RT-PCR verification showed an early upregulation/ induction of growth factor/receptors, PDGF-A, PDGFR-beta, IGFR-1, IGF-1 and -2, IL-6, MEGF-5, FRAG-1, IRS-2, HSPG, and FGFR-1, followed by a late increase in the expression IGFBP-6, PDGF-alpha, FGFR-4A, c/ERB-A, and FGFR-4, 2, and 1 during the tumorigenic progression. Western blot analyses demonstrated that MNU exposure caused progressive reduction of p21 protein levels, an increase of Rb phosphorylation, activation of AKT and CDK2, and upregulation of FGF receptors. Double immunofluorescence labeling showed progressive increase in nuclear colocalization of FGFR1, 2, and 4, which peaked in malignant lines. It is postulated that transition of normal rat glial progenitors to an initiated state is driven by IGF-1 and 2, IL-6, and the upregulation of the receptors PDGFR-beta and FGFR-1, 2, and 4. Deregulation of the cell cycle in this state involves reduction of p21 protein, concomitant upregulation of CDC2, and an increase in Rb phosphorylation that favors expression and nuclear translocation of FGFR-4 and FRAG-1 and 2. These events are associated with progressive activation of AKT and RAS. Malignant transformation is enhanced by near elimination of p21 and PC3, induction of AP-1 (upregulation of JUN-B, c-JUN, FRA-1), activation of the NF-kB pro-survival pathway, and inhibition of the TGF-beta pro-apoptotic pathway possibly in response to changes in the expression of nerve growth factor (NGF) I-A and NGFI-B. These data demonstrate that the events leading to malignancy in the rat brain in response to MNU treatment are to a great extent similar to those described for secondary glial malignancies in humans.

Animals↗
PubMed2004

Erdheim-Chester disease mimicking a primary brain tumor. Case report.

Erdheim-Chester disease (ECD) is a rare systemic histiocytic disease. The authors present a case report detailing the presentation and treatment of a 26-year-old man diagnosed with seizures and a well-circumscribed temporoparietal mass that had been demonstrated on imaging studies. Both preoperative and intraoperative diagnoses were consistent with a low-grade astrocytic neoplasm. Subsequent pathological examination indicated a histiocytic proliferation positive for CD68 and factor VIII, and negative for CD1a and S100, with Touton giant cells characteristic of ECD. This case represents the first isolated occurrence of intracranial ECD and its potential to mimic glial neoplasms.

Adult↗
PubMed2003

Spinal cord malignant astrocytomas. Clinicopathologic features in 36 cases.

BACKGROUND: Malignant astrocytomas of the spinal cord are uncommon neoplasms with a dismal prognosis. To the authors' knowledge, little information has been published to date regarding the prognostic impact of clinicopathologic factors. METHODS: The authors studied 36 cases to investigate the prognostic effect of the World Health Organization (WHO) tumor grade, tumor localization, cell proliferative activity, p53 expression, and therapy. RESULTS: Sixteen patients (44%) underwent biopsy alone, 11 (31%) underwent subtotal resection, and 7 (19%) underwent macroscopic total excision. For two patients, there were no data available regarding surgical treatment. Among the 36 patients (mean age, 32.4 years), there were 23 males (63%) and 13 (36%) females. Their initial biopsies showed 21 (63%) glioblastoma multiforme (GBM) cases (WHO Grade 4), 13 (36%) anaplastic astrocytomas (AA) (WHO Grade 3), and 2 (6%) astrocytomas (A) (WHO Grade 2). After initial surgery, 10 (29%) patients were treated with radiation therapy alone and 7 (19%) received radiation therapy with chemotherapy. Patterns of disease recurrence included extraneural metastases (two cases), brain metastases (five cases), local extension (one case), and diffuse spread along the neuraxis (six cases). Two A (100%) and six AA (46%) cases progressed to GBM. The overall median survival time was 33 months (range, 24-42 months) for A, 10 months (range, 1-84 months) for AA, and 10 months (range, 1-43 months) for GBM. CONCLUSIONS: Patients older than 40 years have a shorter survival period compared with younger patients. There is a high risk of central nervous system dissemination in patients with this disease.

Adolescent↗