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Titolo:
NF1 deletions in S-100 protein-positive and negative cells of sporadic andneurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignantperipheral nerve sheath tumors
Autore:
Perry, A; Roth, KA; Banerjee, R; Fuller, CE; Gutmann, DH;
Indirizzi:
Washington Univ, Sch Med, Div Neuropathol, Dept Pathol, St Louis, MO 63110USA Washington Univ St Louis MO USA 63110 Dept Pathol, St Louis, MO 63110USA Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63110 USA Washington Univ St Louis MO USA 63110 Dept Neurol, St Louis, MO 63110 USA
Titolo Testata:
AMERICAN JOURNAL OF PATHOLOGY
fascicolo: 1, volume: 159, anno: 2001,
pagine: 57 - 61
SICI:
0002-9440(200107)159:1<57:NDISPA>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
BENIGN NEUROFIBROMAS; TYPE-1 GENE; SOFT-TISSUE; CHROMOSOME-17; HETEROZYGOSITY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Perry, A Washington Univ, Sch Med, Div Neuropathol, Dept Pathol, 660 S Euclid Ave, St Louis, MO 63110 USA Washington Univ 660 S Euclid Ave St Louis MO USA 63110 63110 USA
Citazione:
A. Perry et al., "NF1 deletions in S-100 protein-positive and negative cells of sporadic andneurofibromatosis 1 (NF1)-associated plexiform neurofibromas and malignantperipheral nerve sheath tumors", AM J PATH, 159(1), 2001, pp. 57-61

Abstract

Although plexiform neurofibroma (PN) is thought to represent a benign neoplasm with the potential for malignant transformation (malignant peripheral nerve sheath tumor; MPNST), its neoplastic nature has been difficult to prove due to cellular heterogeneity, which hampers standard molecular genetic analyst. Its mixed composition typically includes Schwann cells, fibroblasts, perineurial-like cells, and mast cells. Although NF1 loss of heterozygosity has been reported in subsets of PNs, it remains uncertain which cell type(s) harbor these alterations, Using a dual-color fluorescence in situ hybridization and immunohistochemistry technique, we studied NF1 gene status in S-100 protein-positive and -negative cell sub-populations in archival paraffin-embedded specimens from seven PNs, two atypical PNs, one cellular/atypical PN, and eight MPNSTs derived from 13 patients, seven of which had neurofibromatosis type 1 (NF1). NF1 loss was detected in four of seven PNs andone atypical PN, with deletions entirely restricted to S-100 protein-immunoreactive Schwann cells. In contrast, all eight MPNSTs harbored NF1 deletions, regardless of 5-100 protein expression or NF1 clinical status. Our results suggest that the Schwann cell is the primary neoplastic component in PNs and that S-100 protein-negative cells in MPNST represent dedifferentiatedSchwann cells, which harbor NF1 deletions in both NF1-associated and sporadic tumors.

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Documento generato il 11/07/20 alle ore 06:51:28