Comprehensive genomic analysis of desmoplastic medulloblastomas: identification of novel amplified genes and separate evaluation of the different histological components

@article{Ehrbrecht2006ComprehensiveGA,
  title={Comprehensive genomic analysis of desmoplastic medulloblastomas: identification of novel amplified genes and separate evaluation of the different histological components},
  author={Antje Ehrbrecht and U M{\"u}ller and Marietta Wolter and Alexander Hoischen and Arend Koch and Bernhard Radlwimmer and Bertrand Actor and Antoaneta Mincheva and Torsten Pietsch and Peter Lichter and Guido Reifenberger and Ruthild G. Weber},
  journal={The Journal of Pathology},
  year={2006},
  volume={208}
}
Desmoplastic medulloblastoma (DMB) is a malignant cerebellar tumour composed of two distinct tissue components, pale islands and desmoplastic areas. Previous studies revealed mutations in genes encoding members of the sonic hedgehog pathway, including PTCH, SMOH and SUFUH in DMBs. However, little is known about other genomic aberrations. We performed comparative genomic hybridization (CGH) analysis of 22 sporadic DMBs and identified chromosomal imbalances in 20 tumours (91%; mean, 4.9… 

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References

SHOWING 1-10 OF 73 REFERENCES

Mapping of chromosomal gains and losses in primitive neuroectodermal tumors by comparative genomic hybridization

A series of 18 primitive neuroectodermal tumors (PNETs), the most common malignant central nervous system tumors of childhood, were analyzed with the recently developed approach of comparative genomic hybridization (CGH) and chromosomal imbalances were elicited.

Genetic Alterations in Childhood Medulloblastoma Analyzed by Comparative Genomic Hybridization

The overall pattern of alterations found in this study confirms the findings of other studies and adds two novel regions with chromosomal gains, at 13q and 18q, which seem to indicate poor clinical outcome in medulloblastomas.

Analysis of genomic alterations in benign, atypical, and anaplastic meningiomas: toward a genetic model of meningioma progression.

A model for the genomic alterations associated with meningioma progression is proposed on the basis of the most common aberrations identified in the various malignancy grades.

Medulloblastomas of the desmoplastic variant carry mutations of the human homologue of Drosophila patched.

It is suggested that PTCH represents a tumor suppressor gene involved in the development of the desmoplastic variant of MB, the most frequent malignant brain tumors in children.

Extensive genomic abnormalities in childhood medulloblastoma by comparative genomic hybridization.

A greater degree of genomic imbalance in medulloblastoma than has been recognized previously is suggested and chromosomal loci likely to contain oncogenes or tumor suppressor genes that may contribute to the molecular pathogenesis of this tumor are highlighted.

Sporadic medulloblastomas contain PTCH mutations.

Data suggest that inactivation of PTCH function is involved in the development of at least a subset of sporadic medulloblastomas, and it is interesting that all three mutations occur in exon 17 of the PTCH gene.

Analysis of PTCH/SMO/SHH pathway genes in medulloblastoma

Inactivation of the PTCH tumor suppressor gene occurs in a subset of sporadic medulloblastomas, suggesting that alterations in the PTCH pathway may be important in the development of this tumor. In

Genetic Alterations in Pediatric Medulloblastomas Detected by Comparative Genomic Hybridization

The results may indicate that further acquisition of genetic alterations detected by comparative genomic hybridization are associated with unfavorable prognosis in patients with medulloblastomas.

Isochromosome 17q in primitive neuroectodermal tumors of the central nervous system

Clinically, there was no correlation of the cytogenetic findings with histologic features of the tumors, size of the tumor, extent of metastasis, or surgical resection, and several chromosomes appear to be nonrandomly involved in PNETs.

Characteristic Chromosomal Imbalances in Primary Central Nervous System Lymphomas of the Diffuse Large B‐Cell Type

The data do not support a role of BCL2 rearrangement/ amplification and BCL10 mutation in PCNSL but indicate a number of novel chromosomal regions that likely carry yet unknown tumor suppressor genes or proto‐oncogenes involved in the pathogenesis of these tumors.
...