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Biomedical subjects

R Stoehr

Publications and source records attributed to R Stoehr.

12 recordsLinked to original sources
PubMed2007

Genomic aberrations are rare in urothelial neoplasms of patients 19 years or younger.

Urothelial neoplasms in patients 19 years of age or younger are rare, and the data regarding clinical outcome are conflicting. Molecular data are not available. Urothelial tumours from 14 patients aged 4 to 19 years were analysed, including FGFR3 and TP53 mutation screening, comparative genomic hybridization (CGH), UroVysion FISH analysis, polymerase chain reaction for human papillomavirus (HPV), microsatellite analysis using the NIH consensus panel for detection of microsatellite instability (MSI) and six markers for loss of heterozygosity on chromosome arms 9p, 9q, and 17p and immunohistochemistry for TP53, Ki-67, CK20 and the mismatch repair proteins (MRPs) hMSH2, hMLH1, and hMSH6. Based on the 2004 WHO classification, one urothelial papilloma, seven papillary urothelial neoplasms of low malignant potential (PUNLMPs), five low-grade, and one high-grade papillary urothelial carcinoma were included. No multifocal tumours were found and recurrence was seen in only one patient with a urothelial papilloma. All patients were alive with no evidence of disease at a median follow-up of 3.0 years. We found no mutations in FGFR3, deletions of chromosome arms 9p, 9q or 17p, MSI or MRP loss, or HPV positivity in any of the patients. Three cases showed chromosome alterations in CGH analyses, urothelial dedifferentiation with CK20 overexpression, or aneuploidy, and one TP53 mutation with TP53 overexpression was found. Urothelial neoplasms in people younger than 20 years are predominantly low grade and are associated with a favourable clinical outcome. Genetic alterations frequently seen in older adults are extremely rare in young patients. Urothelial neoplasms in children and young adults appear to be biologically distinct and lack genetic instability in most cases.

Adolescent↗
PubMed2003

Frequent genetic alterations in flat urothelial hyperplasias and concomitant papillary bladder cancer as detected by CGH, LOH, and FISH analyses.

Flat urothelial hyperplasia, defined as markedly thickened urothelium without cytological atypia, is regarded in the new WHO classification as a urothelial lesion without malignant potential. Frequent deletions of chromosome 9 detected by fluorescence in situ hybridization (FISH) have been previously reported in flat urothelial hyperplasias found in patients with papillary bladder cancer. Using comparative genomic hybridization (CGH) and microsatellite analysis, these hyperplasias and concomitant papillary tumours of the same patients were screened for other genetic alterations to validate and extend the previous findings. Eleven flat hyperplasias detected by 5-ALA-induced fluorescence endoscopy and ten papillary urothelial carcinomas (pTaG1-G2) from ten patients were investigated. After microdissection, the DNA of the lesions was pre-amplified using whole genome amplification (I-PEP-PCR). Loss of heterozygosity (LOH) analyses were performed with five microsatellite markers at chromosomes 9p, 9q, and 17p. CGH was performed using standard protocols. In 6 of 11 hyperplasias and 7 of 10 papillary tumours, deletions at chromosome 9 were simultaneously shown by FISH, LOH, and CGH analyses. There was a good correlation between FISH, LOH, and CGH analyses, with identical results in 6 of 10 patients. In addition to deletions at chromosome 9, further genetic alterations were detected by CGH in 9 of 10 investigated hyperplasias, including changes frequently found in invasive papillary bladder cancer (loss of chromosomes 2q, 4, 8p, and 11p; gain of chromosome 17; and amplification at 11q12q13). There was considerable genetic heterogeneity between hyperplasias and papillary tumours, but a clonal relationship was suggested by LOH and/or CGH analyses in 5 of 10 cases. These data support the hypothesis that flat urothelial hyperplasias can display many genetic alterations commonly found in bladder cancer and could therefore be an early neoplastic lesion in the multistep development of invasive urothelial carcinoma.

Aged↗
PubMed2000

Oligoclonality of early lesions of the urothelium as determined by microdissection-supported genetic analysis.

AIM: To contribute to the ongoing discussion of clonality of human urothelial cancer it was considered a valuable approach to analyze multiple areas from cystectomy specimens for deletions of chromosomes known to be involved early in bladder cancer development. MATERIAL AND METHODS: Thus, in 86 biopsies of 4 human cystectomies with different histological findings (maximal diagnosis: pT1G2, pTaG3, pT2G2, normal) loss of heterozygosity (LOH) was investigated as a deletion marker using markers of chromosomes 8p, 9p, 9q and 17p. Findings were compared to histology of the lesion. RESULTS: Findings indicate: (1) no changes in the markers investigated in the bladder with histologically normal urothelium in contrast to detection of LOH in normal urothelium of tumour-bearing bladders; (2) an accumulation of the number of LOH with increasing malignancy of lesions within one bladder, and (3) indications of oligoclonal neoplastic lesions in two of the urinary bladders investigated. CONCLUSIONS: The investigation of multiple lesions within one bladder presents a snapshot of genetic changes in differently advanced tumour stages. The hypotheses of tumour evolution and oligoclonality as derived from our LOH data need to be supported by deletion-independent clonality studies as X-chromosomal inactivation analysis.

Carcinoma in Situ↗
PubMed1990

Scinticisternography in presenile and senile degenerative disease.

86 patients suffering from various senile and presenile degenerative diseases were studied using scinticisternography with In111-DTPA. Flow reversal and delayed clearance were observed in 62 of these patients. These alterations, possibly related to the cerebrospinal fluid dynamics, show the aspecificity of the SC picture. The SC picture does not seem to be correlated to the clinical signs.

Aged↗
PubMed1988

Spinal cord softenings of identifiable cause: anatomical and clinical features.

To complete our bibliographic review of spinal cord softenings, we now discuss the clinical and pathological findings in the cases of known or probable cause. Comparison of the diagnostic groups yields some differences in respect of sex, age and mode of onset, survival and extent of the anatomical lesion. Further differences, especially in age at onset, clinical pattern and lesion site, emerge from a comparison of these cases of known or probable cause with those whose cause is not apparent.

Aged↗
PubMed1988

Recurrent vascular myelopathy. Report of a case with autopsy.

A case of ischemic myelopathy which was marked by two clinical episodes, separated by a 4-month interval and affecting the same level of the spinal cord, is reported. A wide-ranging search through the literature shows that the recurrent type of ischemic vascular myelopathy is very rare.

Aged↗
PubMed1987

Some little-known aspects of spinal cord softening.

311 cases of spinal cord softening, were selected for review. The following points emerged from this study: 1) spinal cord softening is a rare occurrence; 2) while formerly syphilis was the most frequent cause, recently reports of cases secondary to aortic disease or to embolism with diffuse signs of arteriosclerosis and circulatory failure pointing to a different pathogenesis have become more frequent; 3) the site of softening rarely corresponds to the vascular spinal territories as defined by the anatomists, from which it may be argued that often several arterial territories may be involved simultaneously or, alternatively, that the arterial territories are not so rigidly defined as anatomical research has led us to suppose; 4) the few cases of multiple vascular lesions show that, as happens in the brain, the cord may be damaged contemporaneously or successively in several areas.

Adolescent↗
PubMed1984

Roving lateral eye movements in coma. A clinical-pathological study.

Five patients in deep coma due to extensive supratentorial lesions presented roving lateral eye movements (ping-pong gaze), distinguished by the fact that the eyes, after moving to one extreme of gaze, returned to the midline instead of to the opposite extreme. The phenomenon was reported recently by Reynard et al.

Aged↗
PubMed1984

[Palpebral nystagmus].

A case of palpebral nystagmus is reported. Two infarcts were present in the rostral pons, caudal midbrain and in the periaqueductal gray matter between the red nuclei, ventrally to the posterior commissure. The relationships between the palpebral nystagmus and the retraction of the upper lid together with the clinico-pathological significance of the two signs is discussed.

Brain Stem↗