Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
Add more filters










Database
Language
Publication year range
1.
Br J Cancer ; 2024 Jul 12.
Article in English | MEDLINE | ID: mdl-38997407

ABSTRACT

BACKGROUND: Sarcomas are diverse neoplasms with highly variable histological appearances in which diagnosis is often challenging and management options for metastatic/unresectable disease limited. Many sarcomas have distinctive molecular alterations, but the range of alterations is large, variable in type and rapidly increasing, meaning that testing by limited panels is unable to capture the broad spectrum of clinically pertinent genomic drivers required. Paired whole genome sequencing (WGS) in contrast allows comprehensive assessment of small variants, copy number and structural variants along with mutational signature analysis and germline testing. METHODS: Introduction of WGS as a diagnostic standard for all eligible patients with known or suspected soft tissue sarcoma over a 2-year period at a soft tissue sarcoma treatment centre. RESULTS: WGS resulted in a refinement in the diagnosis in 37% of cases, identification of a target for personalised therapy in 33% of cases, and a germline alteration in 4% of cases. CONCLUSION: Introduction of WGS poses logistical and training challenges, but offers significant benefits to this group of patients.

2.
Head Neck Pathol ; 17(2): 576-580, 2023 Jun.
Article in English | MEDLINE | ID: mdl-36723852

ABSTRACT

BACKGROUND: Spindle cell tumours in the sinonasal area are diagnostically challenging. We identified a neoplasm that defied histopathological classification using current criteria. METHODS: The case was subjected to histopathological, immunohistochemical and molecular analysis using a large small variant DNA panel. RESULTS: The tumour comprised cytologically bland epithelioid spindle cells with a rich vasculature, which lack expression of actin and other smooth muscle markers, CD34 and beta-catenin. An activating insertion/deletion in exon 12 of the PDGFRA gene was detected. This alteration has previously been described in gastrointestinal stromal tumours and inflammatory fibroid polyps of the GI tract, but the site, histological, and immunophenotypic features in this tumour are distinct. CONCLUSION: We describe a novel sinonasal spindle cell tumour characterised by an activating insertion/deletion in exon 12 of PDGFRA. The diagnosis of PDGFRA-activated sinonasal spindle cell tumour should be considered in difficult to classify mesenchymal lesions at this site.


Subject(s)
Gastrointestinal Stromal Tumors , Head and Neck Neoplasms , Soft Tissue Neoplasms , Humans , Mutation , Proto-Oncogene Proteins c-kit/genetics , Gastrointestinal Stromal Tumors/genetics , Gastrointestinal Stromal Tumors/pathology , Receptor Protein-Tyrosine Kinases/genetics
SELECTION OF CITATIONS
SEARCH DETAIL
...