Biomedical subjects

V Jay

Publications and source records attributed to V Jay.

139 records · Page 8Linked to original sources

PubMedDate not supplied

Unique intracerebral tumor with divergent differentiation in a patient presenting as NF2: report of a case with features of astrocytoma, ependymoma, and PNET.

Patients with neurofibromatosis 2 (NF2) are predisposed to a variety of neoplastic and dysplastic lesions, including schwannomas, neurofibromas, meningiomas, astrocytomas, and ependymomas, as well as entities such as meningioangiomatosis, schwannosis, and hamartomas. This study reports a unique intracerebral frontotemporal tumor in a 6-year-old boy with presumed NF2, on the basis of bilateral cerebellopontine tumors consistent with acoustic neuromas. The intracerebral tumor revealed a variety of histological patterns, including foci of primitive neuroectodermal tumor (PNET), low-grade astrocytoma and ependymoma, as well as neuroepithelial rests with immature ganglion cells and hamartomatous areas. The MIB-1 labeling index ranged from 63% in the foci of PNET to 4-7% in other foci. The PNET component revealed immunopositivity for synaptophysin and neurofilament and showed cells with delicate intercellular junctions, profiles of rough endoplasmic reticulum, mitochondria, and dense core granules, and cell processes with microtubules and neurofilaments. The glial and ependymal components showed bundles of glial filaments and prominent cell junctions, cilia, and microvilli. The hamartomatous component also included aggregates of cells with hyaline eosinophilic cytoplasm. By EM these cells contained abundant amorphous flocculent material. This constellation of pathologic findings, especially the finding of PNET, is unique and not previously reported in the setting of NF2.

Astrocytoma↗

PubMedDate not supplied

Cerebellar pathology in tuberous sclerosis.

Cerebellar involvement in tuberous sclerosis is rare and generally nonsymptomatic. The authors describe a cerebellar tuber in a 5-year-old boy with tuberous sclerosis. A CT scan at age 2 years showed the characteristic cortical, white matter, and subependymal lesions of tuberous sclerosis. At 5 years, when the patient was symptomatic with ataxia, the CT and MRI scans revealed additionally the presence of a right cerebellar enhancing lesion with edema. A total surgical resection was undertaken. The cerebellar lesion was very firm and demonstrated marked disorganization of neuronal architecture in the cerebellar folia, with bizzare ectopic neurons in the molecular and granule cell layers and white matter, along with calcification, gliosis, and Rosenthal fiber deposition. Balloon cells with glassy, pale, eosinophilic cytoplasm were also present. There was a marked loss of myelin in the white matter, with significant vacuolation and gliosis. Electron microscopy documented abundant lysosomal inclusions, prominent rough endoplasmic reticulum and Golgi complexes, microtubules, intermediate filaments, and synaptic contacts. While there is much speculation as to the precise nature of cerebellar pathology in tuberous sclerosis, this case demonstrates conclusively that the cerebellar lesions reflect anomolous neuronal development and migration akin to supratentorial lesions and can rarely be symptomatic.

Cerebellum↗

PubMedDate not supplied

Astroblastoma: report of a case with ultrastructural, cell kinetic, and cytogenetic analysis.

Astroblastomas are rare tumors of cerebral hemispheres of young adults. We report an astroblastoma in a 15-year-old girl and present the first descriptions of cytogenetic abnormalities in this tumor. The tumor was relatively well demarcated from the brain and revealed prominent perivascular rosettes as well as intervascular clear cells that contained abundant glycogen. Cytogenetic analysis revealed an abnormal hypodiploid karyotype with 45 chromosomes and monosomies of chromosomes 10, 21, and 22 and two marker chromosomes in all cells examined. The tumor had a Ki-67 labelling index of 4.7% and assessment of ploidy by flow cytometry revealed 96% of cells in the G0G1 phase and 4% of cells in the G2M phase. Assessment of proliferation and ploidy indices in further cases may provide important prognostic data for this poorly understood entity. Further cytogenetic studies will also help to identify if there are consistent karyotypic abnormalities in these enigmatic tumors.

Adolescent↗

PubMedDate not supplied

Dystrophin analysis in the diagnosis of childhood muscular dystrophy: an immunohistochemical study of 75 cases.

Seventy-five consecutive pediatric muscular dystrophy (MD) cases were analyzed by dystrophin immunohistochemistry (75/75), Western blot analysis (26/75), DNA analysis (30/75), and immune electron microscopy (8/75). The patients included 64 males and 11 females and the clinical diagnoses were Duchenne MD (DMD) (41), Becker MD (BMD) (8), intermediate/outlier MD (4), female DMD (3), limb girdle or Becker (1), congenital MD (CMD) (10), Fukuyama CMD (1), facioscapulohumeral MD (FSH) (3), limb girdle MD (2), and other uncharacterized dystrophies (2). Dystrophin analysis was performed on all cases using the N- and C-terminal antidystrophin antibodies. Dystrophin analysis helped to exclude an Xp21 dystrophy in four patients. Except for two patients who showed normal staining with the N-terminal and abnormal staining with the C-terminal antibody, all DMD cases showed absent staining except for the immunoreactive revertant fibers, which were generally under 5%. A variety of staining patterns was seen in BMD, ranging from normal to abnormal (variable intensity of staining, partially stained/unstained fibers). Abnormalities were observed with the C-terminal antibody in one case of CMD and Fukuyama CMD, and normal staining was present in the other dystrophies. Immune electron microscopy confirmed absence of staining in DMD and normal membrane staining in other dystrophies. Our study underscores the importance of using antibodies with specificities to different regions of the dystrophin molecule for accurate diagnosis. As abnormal staining may be encountered in non-Xp21 dystrophies such as CMD, dystrophin staining should not be used in isolation to make a diagnosis of a dystrophinopathy.

Adolescent↗

PubMedDate not supplied

Surgical pathology of epilepsy: a review.

This review discusses the neuropathological issues pertaining to temporal lobectomies and neocortical resections for medically refractory seizures of childhood. Most cases in our pediatric series are "lesional" and have CT/MRI abnormalities that contribute to a higher incidence of "dual pathology" lesions rather than pure mesial temporal sclerosis. Almost up to two thirds of our cases are represented by neuronal migration disorders and low grade gliomas. We have also encountered lesions that have both neoplastic and malformative foci, some of which behave more like tumors, while others defy precise classification as tumor or malformation. Our preliminary data indicate a role for cytomegalovirus in some cases of Rasmussen's encephalitis.

Adolescent↗

PubMedDate not supplied

Cell kinetic analysis in pediatric brain and spinal tumors: a study of 117 cases with Ki-67 quantitation and flow cytometry.

We present cell kinetic data including Ki-67 quantitation and flow cytometry on 117 pediatric brain/spinal cord tumors and review the literature. Although, in general, these proliferation indices are in agreement with the histologic grade, they are useful in prognostication in some instances when the histological features of malignancy are equivocal. Specific examples in which flow cytometry may prove particularly useful in this context are childhood ependymomas, which do not show frank anaplasia but have cellular foci with focal increase in mitoses, and choroid plexus neoplasms, where elevated S phase fractions have been associated with an adverse outcome. Thus Ki-67 quantitation and flow cytometry not only serve as useful adjuncts to conventional histologic grading but also in specific instances may provide new information on tumor prognosis.

Brain Neoplasms↗

PubMedDate not supplied

Pathology of chronic herpes infection associated with seizure disorder: a report of two cases with tissue detection of herpes simplex virus 1 by the polymerase chain reaction.

Although uncommon, the association of chronic encephalitis with epilepsy is well recognized. While a viral etiology has been suspected based on the morphology, to date no virus has been successfully cultured from the brain in patients with Rasmussen's encephalitis. We describe the pathologic findings and report the detection of herpes simplex virus 1 (HSV1) in the brain in two patients who presented primarily with intractable seizures. In the first patient, an intrauterine infection was suspected as the underlying basis for the seizure disorder and the extensive cerebral calcification and gliosis. The second patient (with presumed HSV1 encephalitis at age 7 months) underwent a temporal lobectomy for medically refractory seizures at the age of 3 years and pathologic examination revealed a chronic encephalitis. While immunohistochemical, ultrastructural, and culture studies were negative for viral pathogens, molecular analysis by the polymerase chain reaction (PCR) revealed HSV1 DNA sequences in both cases. Thus our cases represent two examples of chronic encephalitis associated with a seizure disorder, where a definitive viral etiology was documented by PCR.

Calcinosis↗

PubMedDate not supplied

Molecular and cytogenetic analysis of a cerebellar primitive neuroectodermal tumor with prominent neuronal differentiation: detection of MYCN amplification by differential polymerase chain reaction and Southern blot analysis.

Oncogene amplification is uncommon in cerebellar primitive neuroectodermal tumor (medulloblastoma) and its frequency and diversity are greater in medulloblastoma cell lines. We describe a medulloblastoma in a 10-year-old-girl with striking neuronal differentiation evident in the islands of ganglion cells intermixed with more primitive undifferentiated cells. The islands of ganglion cells showed prominent synaptophysin positivity. Karyotypic analysis revealed hypo- and hyperdiploidy with multiple random rearrangements and double minute chromosomes. Differential polymerase chain reaction and Southern blot analysis revealed up to 25-fold MYCN amplification.

Base Sequence↗

PubMedDate not supplied

An unusual cerebellar primitive neuroectodermal tumor with t(11;22) translocation: pathological and molecular analysis.

Peripheral primitive neuroectodermal tumors (PNETs) consistently demonstrate a reciprocal translocation, t(11;22)(q24;q12). This translocation has not been found in PNETs of the central nervous system including the cerebellar medulloblastoma. We report an unusual cerebellar PNET in a 4-year-old boy in which tumor cells were surrounded by pools of Alcian blue-positive material. Tumor cells were immunoreactive for neuron-specific enolase and synaptophysin. Electron microscopy revealed well-developed rough endoplasmic reticulum, cell processes with intermediate filaments, microtubules, and dense core granules, and extracellular material reminiscent of mucopolysaccharide. Reverse transcriptase polymerase chain reaction (PCR) revealed an 11;22 translocation-specific PCR product. Clinically the tumor was a cerebellar PNET with leptomeningeal dissemination and there was no evidence to suggest that it was metastatic. Histopathology, however, was indicative of an unusual PNET that also manifested t(11;22) and was associated with an aggressive clinical course.

Cerebellar Neoplasms↗

PubMedDate not supplied

Coexistence of cerebellar primitive neuroectodermal tumor and cerebellar dysplasia: case report.

It has been speculated that the cerebellar primitive neuroectodermal tumor (PNET) in part recapitulates stages in the maturation of normal human neuroblasts. One theory suggests that these tumors may arise from "primitive cells" or "remnants" of the external granular layer of the cerebellum, which forms a subpial, proliferative zone that gives rise to neurons of the internal granular layer and stellate and basket cells. In the present report, the coexistence of marked cerebellar cortical disorganization and cerebellar PNET is described in a 1-year-old boy. The abnormal dysplastic cortex was in close proximity as well as contiguous to the tumor. Although minor degrees of cerebellar dysplasia may be found incidentally, the coexistence of a severe malformative process contiguous to cerebellar PNET merits the consideration of a possible pathogenetic association between aberrant neuronal migration or maturation and the development of PNET in this patient.

Cerebellar Ataxia↗

PubMedDate not supplied

Unusual cerebellar ganglioglioma with marked cytologic atypia.

Neuronal differentiation is well documented in cerebellar primitive neuroectodermal tumors but is uncommon in other cerebellar neoplasms. Although rare, gangliogliomas and gangliocytomas have been previously described in the cerebellum. We report a cerebellar ganglioglioma in a 14-year-old boy, which revealed bizzare markedly pleomorphic cells with extremely pronounced nuclear atypia but less than one mitosis per 50 high-power fields and no necrosis. The tumor showed glial as well as neuronal differentiation, with abundant bi- and multinucleated ganglion cells. There were abundant Rosenthal fibers, eosinophilic granular bodies, focal calcification, and perivascular lymphocytic infiltrates. There has been no evidence of tumor recurrence or neurological deterioration 21 years after surgery, although the marked nuclear atypia led to an initial diagnosis of an anaplastic glioma. We stress the need for careful evaluation of cerebellar gliomas in children that show only nuclear atypia or endothelial hyperplasia in the absence of other features of malignancy.

Adolescent↗

PubMedDate not supplied

"Polyphenotypic" tumors in the central nervous system: problems in nosology and classification.

In recent years, there is increasing recognition of polyphenotypic high-grade malignancies in the non-central nervous system (CNS) tumor literature. Some of these tumors have been regarded as variants of primitive neuroectodermal tumor (PNET) or as extrarenal malignant rhabdoid tumors (MRTs). This report concerns two posterior fossa neoplasms, both of which displayed a "polyphenotypic" expression of neural, epithelial, myogenic, and glial markers, including synaptophysin, neurofilament, vimentin, glial fibrillary acidic protein, S-100, neuron-specific enolase, desmin, S antigen, MIC2, cytokeratin, epithelial membrane antigen, and carcinoembryonic antigen. One tumor showed complex intercellular junctions, cytoplasmic intermediate filaments, well-developed rough and smooth endoplasmic reticulum and Golgi apparatus, cilia, and neurosecretory granules. The other neoplasm showed pools of glycogen, desmosomes, and tonofilaments. The histological and ultrastructural appearances were inconsistent with glioma, PNET, meningioma, ependymoma, choroid plexus carcinoma, sarcoma, germ cell tumor, and other tumors in the World Health Organization classification. Although the polyphenotype raises the issue that these may represent variants of MRT or the atypical teratoid-rhabdoid tumor, the morphologic findings in the two cases were very dissimilar. Our two cases underscore the problems in nosology and classification of polyphenotypic tumors of the CNS. This is particularly significant, as therapeutic protocols for PNET, MRT, and non-CNS polyphenotypic tumors are different. We review the literature on polyphenotypic tumors and reiterate the difficulties in precise classification of these complex tumors.

Biomarkers↗

PubMedDate not supplied

Neonatal meningitis and multiple brain abscesses due to Citrobacter diversus.

We report a fatal sporadic case of neonatal Citrobacter diversus meningitis with rapid clinical progression. At autopsy, multiple brain abscesses and abscesses in the spinal cord had complicated purulent meningitis. Septic omphalitis was identified as the most likely portal of entry.

Brain Abscess↗