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Gewählte Publikation:

SHR Neuro Krebs Kardio Lipid

Presneau, N; Shalaby, A; Ye, H; Pillay, N; Halai, D; Idowu, B; Tirabosco, R; Whitwell, D; Jacques, TS; Kindblom, LG; Brüderlein, S; Möller, P; Leithner, A; Liegl, B; Amary, FM; Athanasou, NN; Hogendoorn, PC; Mertens, F; Szuhai, K; Flanagan, AM.
Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study.
J Pathol. 2011; 223(3): 327-335.
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Autor/innen der Med Uni Graz:
Leithner Andreas
Liegl-Atzwanger Bernadette
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Abstract:
A variety of analyses, including fluorescence in situ hybridization (FISH), quantitative PCR (qPCR) and array CGH (aCGH), have been performed on a series of chordomas from 181 patients. Twelve of 181 (7%) tumours displayed amplification of the T locus and an additional two cases showed focal amplification; 70/181 (39%) tumours were polysomic for chromosome 6, and 8/181 (4.5%) primary tumours showed a minor allelic gain of T as assessed by FISH. No germline alteration of the T locus was identified in non-neoplastic tissue from 40 patients. Copy number gain of T was seen in a similar percentage of sacrococcygeal, mobile spine and base of skull tumours. Knockdown of T in the cell line, U-CH1, which showed polysomy of chromosome 6 involving 6q27, resulted in a marked decrease in cell proliferation and morphological features consistent with a senescence-like phenotype. The U-CH1 cell line was validated as representing chordoma by the generation of xenografts, which showed typical chordoma morphology and immunohistochemistry in the NOD/SCID/interleukin 2 receptor [IL2r]gammanull mouse model. In conclusion, chromosomal aberrations resulting in gain of the T locus are common in sporadic chordomas and expression of this gene is critical for proliferation of chordoma cells in vitro.
Find related publications in this database (using NLM MeSH Indexing)
Animals -
Cell Proliferation -
Chordoma - genetics
Chromosome Aberrations -
DNA Copy Number Variations -
DNA, Neoplasm - genetics
Fetal Proteins - genetics
Gene Knockdown Techniques -
Genetic Predisposition to Disease -
Humans -
In Situ Hybridization, Fluorescence -
Mice -
Mice, SCID -
Neoplasm Proteins - genetics
Neoplasm Transplantation -
Polymerase Chain Reaction - methods
T-Box Domain Proteins - genetics
Transplantation, Heterologous -
Tumor Cells, Cultured -

Find related publications in this database (Keywords)
chordoma
T
amplification
copy number gain
oncogene
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