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Titolo:
MEDULLOBLASTOMAS OF THE DESMOPLASTIC VARIANT CARRY MUTATIONS OF THE HUMAN HOMOLOG OF DROSOPHILA PATCHED
Autore:
PIETSCH T; WAHA A; KOCH A; KRAUS J; ALBRECHT S; TONN J; SORENSEN N; BERTHOLD F; HENK B; SCHMANDT N; WOLF HK; VONDEIMLING A; WAINWRIGHT B; CHENEVIXTRENCH G; WIESTLER OD; WICKING C;
Indirizzi:
UNIV BONN,MED CTR,DEPT NEUROPATHOL,SIGMUND FREUD STR 25 D-53105 BONN GERMANY SIR MORTIMER B DAVIS JEWISH HOSP,DEPT PATHOL MONTREAL PQ H3T 1E2 CANADA UNIV WURZBURG,DEPT NEUROSURG D-97080 WURZBURG GERMANY UNIV WURZBURG,DEPT PEDIAT NEUROSURG D-97080 WURZBURG GERMANY UNIV COLOGNE,DEPT PEDIAT HEMATOL & ONCOL D-50925 COLOGNE GERMANY UNIV QUEENSLAND,CTR CELLULAR & MOL BIOL ST LUCIA QLD 4072 AUSTRALIA ROYAL BRISBANE HOSP,QUEENSLAND INST MED RES BRISBANE QLD 4029 AUSTRALIA
Titolo Testata:
Cancer research
fascicolo: 11, volume: 57, anno: 1997,
pagine: 2085 - 2088
SICI:
0008-5472(1997)57:11<2085:MOTDVC>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
PRIMITIVE NEUROECTODERMAL TUMORS; CELL CARCINOMA SYNDROME; GORLIN SYNDROME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
30
Recensione:
Indirizzi per estratti:
Citazione:
T. Pietsch et al., "MEDULLOBLASTOMAS OF THE DESMOPLASTIC VARIANT CARRY MUTATIONS OF THE HUMAN HOMOLOG OF DROSOPHILA PATCHED", Cancer research, 57(11), 1997, pp. 2085-2088

Abstract

Inactivating mutations in the PTCH gene, a human homologue of the Drosophila segment polarity gene patched, have been identified recently in patients with nevoid basal cell carcinoma syndrome, These patients are predisposed to various neoplasias including basal cell carcinomas and medulloblastomas (MBs), To determine the involvement of PTCH in sporadic MBs, which represent the most frequent malignant brain tumors inchildren, we screened for PTCH alterations in an unselected panel of 64 biopsy samples from 62 patients and four continuous MB cell lines, all derived from patients with sporadic MBs. Using single-strand conformational polymorphism analysis, we screened exons 2-22 and detected nonconservative PTCH mutations in 3 of 11 samples from sporadic cases of the desmoplastic variant of MB but none in 57 MBs with classical (non-desmoplastic) histology, In two of the tumors with mutations and in two additional desmoplastic cases, loss of heterozygosity was found at9q22, These findings suggest that PTCH represents a tumor suppressor gene involved in the development of the desmoplastic variant of MB.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 13/07/20 alle ore 10:12:29