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SHR Neuro Krebs Kardio Lipid

Szurian, K; Kashofer, K; Liegl-Atzwanger, B.
Role of Next-Generation Sequencing as a Diagnostic Tool for the Evaluation of Bone and Soft-Tissue Tumors.
Pathobiology. 2017; 84(6):323-338 [OPEN ACCESS]
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Autor/innen der Med Uni Graz:
Kashofer Karl
Liegl-Atzwanger Bernadette
Szurian Kinga
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Abstract:
Bone and soft-tissue tumors are in general rare. Diagnosing these tumors is challenging based on the significant number of different tumor entities, the rareness of these tumors, and the considerable morphological heterogeneity which can be found within a single tumor entity. Considering that more than half of the described soft-tissue tumors and approximately 25% of the bone tumors harbor recurrent genetic alterations, the use of auxiliary molecular examinations should be strongly considered. Molecular analyses are important to confirm the diagnosis, to guide treatment, to provide information about prognosis, and to allow patient recruitment for basket trials based on the molecular signature of a tumor. In addition, novel molecular alterations detected by next-generation sequencing (NGS) obtain further insights into the pathogenesis of these rare tumors and allow a more detailed genetic classification. Based on our single-center results of NGS using the Ion AmpliSeq Cancer Hotspot Panel v2 and the Ion AmpliSeq Comprehensive Cancer Panel (Thermo Fisher Scientific) for mutational analyses as well as the Archer FusionPlex Sarcoma Kit (ArcherDX, Inc) to detect gene fusions in 26 genes since early 2016, we have experienced NGS as a very sensitive method to detect genetic alterations. In our experience, the use of the Archer FusionPlex Sarcoma Kit is superior to fluorescent in situ hybridization as an auxiliary tool in the routine workup of soft-tissue and bone tumors. © 2017 S. Karger AG, Basel.
Find related publications in this database (using NLM MeSH Indexing)
Bone Neoplasms - diagnosis
Bone Neoplasms - genetics
DNA Mutational Analysis -
High-Throughput Nucleotide Sequencing - methods
Humans -
In Situ Hybridization, Fluorescence -
Molecular Diagnostic Techniques - methods
Mutation -
Prognosis -
Sarcoma - diagnosis
Sarcoma - genetics
Soft Tissue Neoplasms - diagnosis
Soft Tissue Neoplasms - genetics
Transcriptome -

Find related publications in this database (Keywords)
Next-generation sequencing
Molecular analysis
Sarcomas
Bone tumors
Soft-tissue tumors
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