The Clinical Relevance of Molecular Genetics in Soft Tissue Sarcomas

@article{Ordoez2010TheCR,
  title={The Clinical Relevance of Molecular Genetics in Soft Tissue Sarcomas},
  author={Jose Luis Ordo{\~n}ez and Daniel Osuna and Daniel J. Garc{\'i}a-Dom{\'i}nguez and Ana T. Amaral and Ana Pastora Otero-Motta and Carlos Mackintosh and Mar{\'i}a Victoria Sevillano and Mar{\'i}a Victoria Barbado and Teresa Hernández and Enrique de {\'A}lava},
  journal={Advances in Anatomic Pathology},
  year={2010},
  volume={17},
  pages={162-181}
}
Bone and soft tissue sarcomas are an infrequent and heterogeneous group of mesenchymal tumors including more than a hundred different entities attending to histologic patterns. Research into the molecular aspects of sarcomas has increased greatly in the last few years. This enormous amount of knowledge has allowed, for instance, to refine the classification of sarcomas, improve the diagnosis, and increase the number of therapeutical targets available, most of them under preclinical evaluation… 

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References

SHOWING 1-10 OF 214 REFERENCES

Molecular pathology of sarcomas.

TLDR
This review points out the clinical projection of sarcomagenesis elucidation and knowledge of diverse types of molecular alterations in sarcomas, as well as the identification of reliable molecular markers and possible therapeutic targets.

Targeting sarcomas: therapeutic targets and their rational.

TLDR
More recent targeted therapy in sarcomas is described, with special emphasis on Ewing's sarcoma and the role of cancer stem cells (CSCs) and the relevance of reliable molecular markers and possible therapeutic targets.

Molecular prognostication for soft tissue sarcomas: are we ready yet?

TLDR
The recent debate around the prognostic value of synovial sarcoma fusion genes is an example of many of the issues encountered in studies of molecular prognostic markers in cancer, and what valuable lessons can be taken from these studies.

Soft tissue sarcoma trials: one size no longer fits all.

  • J. Verweij
  • Biology, Medicine
    Journal of clinical oncology : official journal of the American Society of Clinical Oncology
  • 2009
TLDR
The data indicate not only that the disease may be drug-sensitive as a result of specific molecular changes, but also that the required drug dose may be dependent on specific changes within these molecular changes.

Pathology of soft‐tissue tumors: Daily diagnosis, molecular cytogenetics and experimental approach

TLDR
The MMP upregulation mechanism mediated by tumor‐associated emmprin may be a potentially useful target in anti‐tumor invasion therapy for sarcomas, playing a crucial role in tumor progression, invasion and metastasis.

Synovial Sarcoma: From Genetics to Genetic-based Animal Modeling

TLDR
The usefulness of genetics-based mouse models as a valuable research tool in the hunt for key molecular determinants of this lethal disease as well as a preclinical platform for designing and evaluating novel treatment strategies are discussed.

Clinicopathologic and molecular genetic characterization of low-grade fibromyxoid sarcoma, and cloning of a novel FUS/CREB3L1 fusion gene

TLDR
Taken together, the results indicate that virtually all LGFMS are characterized by a chimeric FUS/CREB3L2 gene, and that rare cases may display a variant F US/CREb3L1 fusion.

SYT-SSX gene fusion as a determinant of morphology and prognosis in synovial sarcoma.

TLDR
The type of SYT-SSX fusion transcript correlates with both the histologic subtype and the clinical behavior of synovial sarcoma and may also yield important independent prognostic information.

Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor.

TLDR
DSRCT represents the third primitive sarcoma in which the EWS gene is involved and the first instance of recurrent rearrangement of a tumor suppressor gene, WT1, in a specific tumor type.
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