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Biomedical subjects

K Kuchelmeister

Publications and source records attributed to K Kuchelmeister.

At least 19 recordsLinked to original sources

Immunohistochemical profile and chromosomal imbalances in papillary tumours of the pineal region.

The histopathology of papillary tumours of the pineal region (PTPR) closely resembles that of ependymomas and choroid plexus tumours. Therefore, immunohistochemical staining profiles were investigated in a series of 15 PTPR. In addition to cytokeratin, synaptophysin and glial fibrillary acidic protein expression, PTPR were examined for the presence of dot- or ring-like epithelial membrane antigen (EMA) immunoreactivity typically encountered in ependymoma, staining for inwardly rectifying potassium channel Kir7.1 and stanniocalcin-1 (specifically expressed in choroid plexus tumours) as well as microtubule-associated protein-2 (MAP-2). Furthermore, comparative genomic hybridization was performed in five PTPR. Cytokeratin was expressed in all PTPR examined, whereas glial fibrillary acidic protein and synaptophysin staining were absent. Dot- or ring-like EMA immunoreactivity was only observed in 1 out of 15 PTPR. Membranous Kir7.1 and cytoplasmic stanniocalcin-1 staining were present in the minority of PTPR (3/15 and 4/15, respectively). In contrast, MAP-2 immunoreactivity was encountered in 13 out of 15 PTPR, but was significantly less frequently observed in a series of choroid plexus tumours (7/37). PTPR mainly presented with chromosomal losses affecting chromosomes 10 (4/5 cases) and 22q (3/5 cases) as well as gains on chromosomes 4 (4/5 cases), 8 (3/5 cases), 9 (3/5 cases) and 12 (3/5 cases). To conclude, the majority of PTPR can be distinguished from ependymomas and choroid plexus tumours by absent staining for epithelial membrane antigen, Kir7.1 and staniocalcin-1 as well as the presence of distinct MAP-2 immunoreactivity. Antibodies directed against these antigens are thus expected to be valuable markers in the diagnosis of papillary tumours located in the vicinity of the third ventricle.

Adenocarcinoma, Papillary↗

Expression of annexin-1 in multiple sclerosis plaques.

This study describes the distribution and identity of annexin-1 positive cells in the central nervous system in patients with multiple sclerosis (MS). Glucocorticoid-inducible, anti-inflammatory properties have been ascribed to annexin-1, a member of a family of calcium-binding proteins that are referred to collectively as annexins. We have found annexin-1 to be spatially associated with active MS lesions and demonstrated a stage-dependent expression of annexin-1 in MS plaques. All of the most important pathogenetically involved cells of MS lesions showed a strong annexin-1 reactivity. Both correlation analysis and double staining procedures suggested annexin-1 expression in macrophages and perivascular lymphocytes, where a cytoplasmic reactivity was displayed, whereas in activated, gemistocytic astrocytes it was also concentrated close to the plasma membrane. Although the exact roles of annexin-1 in this setting are still to be determined, a possible contribution to anti-inflammatory processes might be suggested.

Adult↗

CLL cells in a brain metastasis of bronchial adenocarcinoma in a patient with three different neoplasms - case report.

OBJECTIVE: We report the case of a patient with three different malignancies who had a brain metastasis of bronchial adenocarcinoma with infiltrates of CLL lymphocytes and who had been operated for prostate cancer years before. - PATIENT AND RESULTS: A 72-year-old man was admitted to our department after a Jacksonian seizure. The MRI showed a left temporal mass lesion. The patient was suffering from chronic lymphocytic leukemia (CLL) for ten years, he had had surgery for prostate cancer eight years ago and the diagnosis of bronchial carcinoma was made during preoperative routine diagnostics. After neurosurgical intervention the histologic examination of the cerebral mass lesion disclosed metastasis of a PSA-negative adenocarcinoma with perivasal infiltrates of lymphocytic leukemic cells. - DISCUSSION: There are few reports about patients with three primary malignancies. CLL may play a role in enabling tumor cells to escape the immune response and could facilitate development of the prostate cancer and of a bronchial adenocarcinoma as secondary cancers in this patient. The combined occurrence of adenocarcinoma cells and CLL lymphocytes in the brain metastasis can be explained by impairment of the blood-brain-barrier in the carcinoma metastasis enabling extravasation of circulating leukemic cells.

Adenocarcinoma↗

Clonal analysis in glioblastoma with epithelial differentiation.

Epithelial differentiation in glioblastomas (GBM) may be associated with circumscribed growth and focal keratin expression resembling carcinoma metastasis. Therefore these rare lesions can pose a diagnostic problem suggesting coincidental occurrence of two separate neoplasms. However molecular analysis should succeed in establishing a common origin of seemingly unrelated tumor samples. Five GBMs exhibiting epithelial differentiation were microdissected and analyzed for mutations in the TP53 gene. SSCP analysis of exons 5-8 was followed by direct sequencing of aberrantly migrating fragments. TP53 mutations were identified in tumors from two of five patients. A G-->T transversion in codon 176 was detected in a tumor, initially diagnosed as metastases of unknown origin, however, a later autopsy revealed GBM. In this lesion, the mutation was observed in both, areas of astrocytic differentiation and areas of epithelial differentiation. One tumor diagnosed as GBM with epithelial differentiation carried C-->T transition in codon 211 in both, areas of astrocytic and epithelial differentiation. Thus, molecular analysis proved clonality in two GBMs with epithelial differentiation, thereby excluding a collision tumor. The present data support the concept of clonal origin of these morphologically heterogeneous lesions.

Astrocytes↗

Endolymphatic sac tumour. A case report.

We present the case of a patient with an endolymphatic sac tumour (ELST). This rare tumour entity has only recently been defined and despite a well characterized clinical appearance misdiagnosis as jugular paraganglioma is frequent. A 68-year-old woman was admitted to our Neurosurgical Department with a mass lesion extending from the left temporal bone to the cerebello-pontine angle (CPA). Radiological features were high vascularization, contrast enhancement and destruction of the os petrosum. After preoperative angiographic embolization the tumour was removed in two surgical interventions, first via a lateral suboccipital approach and second by petrosectomy. The lesion proved to be a typical endolymphatic sac tumour by a synopsis of histological, radiological and clinical features. ELST should be taken into consideration in patients with mass lesions in the cerebellopontine angle destroying the petrous bone and resembling paraganglioma. Since slow growth rate and lack of metastases are particular features of ELST, complete resection of the tumour results in long survival times without adjuvant chemo- or radiotherapy.

Adenocarcinoma, Papillary↗

Ocular findings in Fryns syndrome.

PURPOSE: To demonstrate the ocular histopathologic findings in Fryns syndrome, a multiple congenital anomaly syndrome, with characteristic features including Dandy-Walker malformation, cleft palate, diaphragmatic hernia, lung hypoplasia, distal limb anomalies and polyhydramnios. The prevalence is about 0.7 per 10,000 births. Reported ocular features include microphthalmus, "cloudy cornea", irregularities of Bowman's layer, thickened posterior lens capsule and retinal dysplasia. METHODS: Case report. The ocular histopathologic and ultrastructural findings in a male fetus with Fryns syndrome who died immediately after his birth at 26th week of gestation are shown. RESULTS: An abnormal Descemet's membrane was found in addition to "cloudy corneae". Electron microscopy demonstrated absence of the banded collagen fibrils in Descemet's membrane, indicating corneal endothelial dysfunction. Otherwise, the eye was morphologically normal for its age; none of the other reported ocular features of Fryns syndrome were found. CONCLUSION: Corneal endothelial dysfunction might cause abnormal composition of anterior Descemet's membrane and could contribute to the "cloudy cornea" known to occur in Fryns syndrome.

Abnormalities, Multiple↗

[Axillary nerve paralysis after playing squash. A case report].

A 27-year-old otherwise healthy male presented with an isolated but complete axillary nerve palsy after excessive squash playing. When repeated electromyographic investigations showed no signs of reinnervation in the deltoid muscle, surgery was performed in order to restore nerve function. Intraoperatively, the nerve showed a short segment of thinning about 2 cm distally the nerve's origin from the posterior fascicle. As intraoperative electrophysiological testing was also negative (no electrically evoked nerve action potentials across the lesion) the suspicious nerve segment was resected and nerve continuity restored by sural grafts. Histologically, no intact nerve structures could be found at the site of the thinning. Most likely the lesion was caused by traction forces. Follow-up studies showed reinnervation of deltoid function over time.

Adult↗

[Metaplastic meningioma with cartilaginous differentiation].

A meningioma with cartilaginous areas is described. The tumour arose in the region of the right sphenoid wing in a 74-year-old woman. Histologically, it showed large areas of a typical meningothelial meningioma, among which numerous cartilaginous islands and some chondroid regions, obviously of intermediate (meningothelial/cartilaginous) differentiation, could be seen. Cartilaginous tumour areas showed lower MIB1-labelling indices than typical meningioma regions, where an increased proliferative activity was seen focally. The current WHO classification lists such tumours as metaplastic meningiomas, reflecting the potential of meningioma cells for mesenchymal differentiation. Metaplastic meningiomas may show different metaplasias (xanthomatous, osseous, lipomatous, cartilaginous, etc.). Extensive cartilaginous metaplasias are very uncommon. Identification of typical meningioma areas is the key for the diagnosis of this meningioma variant.

Aged↗

Chordoid glioma of the third ventricle: immunohistochemical and molecular genetic characterization of a novel tumor entity.

Chordoid glioma of the third ventricle was recently reported as a novel tumor entity of the central nervous system with characteristic clinical and histopathological features (Brat et al., J Neuropathol Exp Neurol 57: 283-290, 1998). Here, we report on a histopathological, immunohistochemical and molecular genetic analysis of five cases of this rare neoplasm. All tumors were immunohistochemically investigated for the expression of various differentiation antigens, the proliferation marker Ki-67, and a panel of selected proto-oncogene and tumor suppressor gene products. These studies revealed a strong expression of GFAP, vimentin, and CD34. In addition, most tumors contained small fractions of neoplastic cells immunoreactive for epithelial membrane antigen, S-100 protein, or cytokeratins. The percentage of Ki-67 positive cells was generally low (<5%). All tumors showed immunoreactivity for the epidermal growth factor receptor and schwannomin/merlin. There was no nuclear accumulation of the p53, p21 (Waf-1) and Mdm2 proteins. To examine genomic alterations associated with the development of chordoid gliomas, we screened 4 tumors by comparative genomic hybridization (CGH) analysis. No chromosomal imbalances were detected. More focussed molecular genetic analyses revealed neither aberrations of the TP53 and CDKN2A tumor suppressor genes nor amplification of the EGFR, CDK4, and MDM2 proto-oncogenes. Our data strongly support the hypothesis that chordoid glioma of the third ventricle constitutes a novel tumor entity characterized by distinct morphological and immunohistochemical features, as well as a lack of chromosomal and genetic alterations commonly found in other types of gliomas or in meningiomas.

Adult↗

Intracranial metastasis of a spinal myxopapillary ependymoma. A case report.

A 37-year-old man exhibited a suprasellar tumor which histologically proved to be a myxopapillary ependymoma. Since these gliomas are virtually restricted to the cauda equina region, magnetic resonance imaging (MRI) was performed which revealed multiple spinal tumors. The present case seems to be the first report on spontaneous intracranial seeding of a spinal myxopapillary ependymoma.

Adult↗

[Meningeal melanocytoma].

A 38-year-old man presented with an intracranial extra-axial tumour at the base of the left posterior fossa which proved to be a meningeal melanocytoma. Meningeal melanocytoma is a rare, benign melanotic tumour of the leptomeninges occurring predominantly in the posterior fossa or the upper spinal cord in adults. It shows characteristic cytologic features with isomorphic epitheliod or spindle-shaped cells, often with prominent nucleoli and a variable content of intracytoplasmic melanin. It usually lacks signs of malignancy such as high mitotic rate, necroses or infiltrative growth and shows a low labeling index in proliferation marker studies. Its immunohistological profile with S-100 protein-, vimentin- and HMB-45-positive tumour cells is similar to that of (primary or metastatic) malignant melanoma. This differential diagnosis is crucial because of the totally different therapeutic and prognostic implications. Therefore, everyone dealing with surgical neuropathology should be familiar with the rare, but clinically important diagnosis of meningeal melanocytoma.

Adult↗

Cytomegalovirus encephalomyelomeningoradiculitis in acquired immunodeficiency syndrome (AIDS).

Acute inflammatory polyradiculitis represents an uncommon peripheral nerve complication during HIV infection. The case of an HIV-seropositive patient who was admitted to hospital for a cauda equina syndrome is reported. Despite early application of anticytomegalic medication, a cytomegalovrirus (CMV) infection spread out to the central nervous system (CNS), causing the patient's death. A post-mortem examination confirmed the diagnosis of CMV-encephalomyelomeningoradiculitis. To the authors' knowledge, such a progress of a CMV-related polyradiculitis to an encephalomyelomeningoradiculitis has not yet been described. The clinical features of this case will aid in the recognition of CMV-related neurological complications, and may permit earlier and perhaps more successful treatment.

AIDS-Related Opportunistic Infections↗

Morphological and immunohistochemical characterization of granular cells in non-hypophyseal tumours of the central nervous system.

We report 14 biopsy cases of granular cell tumours (GCT) of the central nervous system (CNS) outside the pituitary gland. In six cases the granular cells determined the morphology (actual GCT), the other eight consisted of different CNS tumours with a varying granular cell component. Pronounced immunoreactivity for ubiquitin and alpha-1-antichymotrypsin could be found in all investigated tumours, while GFAP, neuron specific enolase, von Willebrand factor, vimentin, S-100 protein, alpha-1-antitrypsin, actin, and the neurofilaments 68 kDa and 160 kDa showed mostly weak positivity in some cases. Four out of eight GCT showed no immunoreactivity for MIB1; the other four cases had a proliferation index between 0.5% and 15%. Six out of nine cases were positive for p53. We consider granular cells to originate from different cell types. Thus, although morphologically identical, GCT are actually biologically heterogeneous. GCT of the CNS may represent gliomas of mostly astrocytic origin with a metabolically induced transformation of some tumour cells into granular cells.

Adult↗

[Giant axonal neuropathy. A case report].

We report a sporadic case of giant axonal neuropathy (GAN) starting in a 5-year-old boy with gait disturbance. At the age of 10 years he showed signs of a sensomotoric polyneuropathy and central neurological symptoms: intention tremor, nystagmus and visual disturbance. The boy also had curly hair. Sural nerve biopsy showed many giant axons with accumulation of microfilaments, which were also found in cytoplasma of Schwann cells, endothelial cells and fibrocytes. Similar changes were detected in endothelial cells of a muscle biopsy, which additionally displayed neurogenic atrophy and target fibers. Immunohistochemically, desmin, vimentin, heat shock protein 70, and ubiquitin were not detectable in giant axons, which, however, contained neurofilament protein 68, 200 and beta-tubulin. Our case shows that careful ultrastructural examination of a muscle biopsy may point to the diagnosis of GAN.

Axons↗

Different variants of frontotemporal dementia: a neuropathological and immunohistochemical study.

Histological and immunohistochemical findings in 20 cases of frontotemporal dementias-8 cases of dementia of frontal lobe type (DFT), 7 cases of Pick's disease (PD), and 5 cases of motor neuron disease with dementia (MND/D)-are presented. Common features of all three syndromes were: frontotemporal atrophy, involvement of subcortical nuclei, and swollen chromatolytic cells. Ubiquitin (Ub)-positive and tau-negative inclusions in cortical, hippocampal, and motor neurons were found in MND/D and DFT cases, suggesting a common pathogenesis of MND/D and DFT. MND/D showed the same cytoskeletal alterations in motor nuclei as MND without dementia: Bunina bodies and skein-like, Ub-positive inclusions. DFT differed from PD in the preponderance of histopathological changes in upper cortical layers, the sparseness of chromatolytic cells, and the absence of tau-positive Pick bodies (PBs). There were, however, two transitional cases showing Pick-type histology but no PBs, thus linking DFT and PD. PBs expressed chromogranin B and secretoneurin strongly, but chromogranin A only weakly. They were negative for the 70-kDa heat-shock protein, metallothionein, and glutathione-S-transferase.

Adult↗