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  • 1
    Electronic Resource
    Electronic Resource
    Allelic losses on chromosome arm 10q and mutation of the PTEN (MMAC1) tumour suppressor gene in primary and metastatic malignant melanomas (2000)
    Springer
    Virchows Archiv 436 (2000), S. 487-493 
    Details
    ISSN: 1432-2307
    Keywords: Key words Chromosome 10 ; Loss of heterozygosity ; Molecular genetics ; PTEN ; Skin tumours
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Malignant melanomas frequently show loss of alleles on the long arm of chromosome 10. The PTEN (MMAC1) gene has been identified as a tumour suppressor gene at 10q23.3 that is mutated in various types of advanced human cancers. We have investigated a series of 40 sporadic melanomas from 37 patients (15 primary cutaneous melanomas and 25 melanoma metastases) for allelic losses on chromosome 10, as well as for deletion and mutation of the PTEN gene. Microsatellite analysis revealed loss of heterozygosity at loci located on 10q in tumours from 15 of 34 patients investigated (44%). Somatic PTEN mutations were identified in melanomas from 4 of 37 patients (11%), all of whom had metastatic disease. In two of these patients, the tumours had additionally lost one PTEN allele, indicating complete loss of wild-type PTEN in the tumour cells. Our findings corroborate that loss of heterozygosity on chromosome 10 is a frequent aberration in malignant melanomas and implicate PTEN as a tumour suppressor gene inactivated by somatic mutation in a fraction of these tumours.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004280050477
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  • 2
    Electronic Resource
    Electronic Resource
    Symmetrical neurofibroma with Schwann cell predominance and focal formation of microneurinomas (1993)
    Springer
    Acta neuropathologica 85 (1993), S. 227-232 
    Details
    ISSN: 1432-0533
    Keywords: Neurofibromatosis ; Hypertrophic neuropathy ; Schwann cells ; Neurinoma ; Proliferative activity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A case of symmetrical neurofibroma with onion bulbs in various stages of development and progression to microneurinomas is presented. Immunohistochemistry with differentiation and growth factor markers as well as electron microscopy showed a Schwann cell origin of the concentrically arranged cells. The onion bulbs differed from those of hypertrophic neuropathy by their more compact structure. A partial expression of cellular proliferation markers in the onion bulbs was consistent with a multifocal proliferative activity, confirming the neoplastic nature of the lesion.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00227773
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Deletion mapping of the short arm of chromosome 1 identifies a common region of deletion distal to D1S496 in human meningiomas (1997)
    Springer
    Acta neuropathologica 94 (1997), S. 479-485 
    Details
    ISSN: 1432-0533
    Keywords: Key words Chromosome 1 ; Loss of heterozygosity ; Meningioma ; Progression ; Tumor suppressor gene
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have studied a series of 63 meningiomas, including 47 benign meningiomas (World Health Organization, WHO, grade I), 13 atypical meningiomas (WHO grade II) and 3 anaplastic meningiomas (WHO grade III), using microsatellite and restriction fragment length polymorphism analysis for loss of heterozygosity (LOH) at 21 polymorphic loci on chromosome 1 (19 loci on 1p and 2 loci on 1q). LOH on 1p was found in 9 of 13 atypical meningiomas (70%) and in 3 of 3 (100%) anaplastic meningiomas, but only in 6 of 47 (13%) benign meningiomas. In 13 tumors allelic loss was observed at all informative loci on 1p. Terminal deletions with retention of heterozygosity at one or more proximal 1p loci were found in 5 tumors. The region commonly deleted in all tumors was located distally to the D1S496 locus, i.e., at cytogenetic bands 1p34 – 1pter, and included the chromosomal segment which is frequently deleted in neuroblastoma, malignant melanoma, and different types of carcinoma.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050736
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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