Bone Tumours: From Molecular Pathology to Clinical Practice

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: 31 October 2024 | Viewed by 601

Special Issue Editors


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Guest Editor
Institute of Pathology, Technical University of Munich, 81675 Munich, Germany
Interests: soft tissue sarcomas; bone tumor

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Guest Editor
Bone Tumor Reference Centre, Institute of Pathology, University Hospital Basel, University of Basel, 4031 Basel, Switzerland
Interests: bone tumor

Special Issue Information

Since the end of the 1980s, there has been little progress in the treatment of malignant bone tumors. However, the introduction of molecular diagnostics in pathology has led to notable advances in the field of bone tumors, particularly in diagnostics but also in therapy.

Better distinction between individual tumor types (osteoblastoma versus osteosarcoma; fibrous dysplasia versus low-grade central osteosarcoma) became possible, which had a direct impact on therapy decisions and modalities or evolved new therapeutic options (denosumab therapy in giant cell tumors of bone). Malignant tumors, which were previously considered as one group, albeit being a highly heterogeneous group, e.g., undifferentiated small round cell sarcomas of bone and soft tissue, could now be subdivided molecularly and genetically as distinct entities, and initial studies indicate that the therapy for each might also differ. So-called “tumor-like lesions,” which were previously considered reactive, also exhibited genetic aberrations that suggested their classification as true neoplasms (solitary bone cyst, non-ossifying bone fibroma).

The detection of specific targets, which were often based on translocations, enabled targeted therapies (Langerhans cell histiocytosis, Erdheim–Chester disease)

The improvement in imaging methods also resulted in improved surgical options, which were further expanded by advances in radiation therapy (particle and heavy ion therapy).

This Special Issue on bone tumors provides an overview of the latest diagnostic and therapeutic achievements in the field of bone tumors.

Prof. Dr. Carolin Mogler
Prof. Dr. Gernot Jundt
Guest Editors

Manuscript Submission Information

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Keywords

  • bone tumors
  • molecular diagnostics
  • soft tissue sarcomas

Published Papers (1 paper)

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Research

16 pages, 1691 KiB  
Article
Impact of CDK Inhibitors on TBXT Expression in Chordoma Cell Lines Including the First Stable Cell Line of a High-Grade Chordoma
by Sarah Bette, Luisa Haase, Juliane Nell, Thomas Grieser, Alexandra von Baer, Markus Schultheiss, Ralf Marienfeld, Peter Möller, Thomas F. E. Barth and Kevin Mellert
Diagnostics 2024, 14(10), 1028; https://doi.org/10.3390/diagnostics14101028 - 16 May 2024
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Abstract
Chordomas are very rare malignant neoplasms of the bone occurring almost exclusively along the spine. As the tumours are thought to arise from notochordal remnants, the vast majority of chordomas express the TBXT gene, resulting in detectable nuclear amounts of its gene product [...] Read more.
Chordomas are very rare malignant neoplasms of the bone occurring almost exclusively along the spine. As the tumours are thought to arise from notochordal remnants, the vast majority of chordomas express the TBXT gene, resulting in detectable nuclear amounts of its gene product brachyury. This T-Box transcription factor is commonly recognised as being essential in chordoma cells, and limiting TBXT expression is thought to be the key factor in controlling this tumour. Although the tumour is rare, distinct molecular differences and vulnerabilities have been described with regard to its location and the progression status of the disease, rendering it mandatory for novel cell lines to reflect all relevant chordoma subtypes. Here, we describe a novel chordoma cell line arising from the pleural effusion of a disseminated, poorly differentiated chordoma. This cell line, U-CH22, represents a highly aggressive terminal chordoma and, therefore, fills a relevant gap within the panel of available cell culture models for this orphan disease. CDK7 and CDK9 inhibition was lately identified as being effective in reducing viability in four chordoma cell lines, most likely due to a reduction in brachyury levels. In this study, we determined the capability of the CDK7 inhibitor THZ1 and the CDK1/2/5/9 inhibitor dinaciclib to reduce TBXT expression at mRNA and protein levels in a broad range of nine cell lines that are models of primary, recurrent, and metastasised chordoma of the clivus and the sacrum. Full article
(This article belongs to the Special Issue Bone Tumours: From Molecular Pathology to Clinical Practice)
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