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.
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http://dx.doi.org/10.1007/s12105-023-01526-0 | DOI Listing |
PLoS Genet
January 2025
Molecular Mycology Laboratory, Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bengaluru, India.
During chromosome segregation, the spindle assembly checkpoint (SAC) detects errors in kinetochore-microtubule attachments. Timely activation and maintenance of the SAC until defects are corrected is essential for genome stability. Here, we show that shugoshin (Sgo1), a conserved tension-sensing protein, ensures the maintenance of SAC signals in response to unattached kinetochores during mitosis in a basidiomycete budding yeast Cryptococcus neoformans.
View Article and Find Full Text PDFMicrotubule-severing enzymes play essential roles in regulating diverse cellular processes, including mitosis and cytokinesis, by modulating microtubule dynamics. In the early branching protozoan parasite , microtubule-severing enzymes are involved in cytokinesis and flagellum length control during different life cycle stages, but none of them have been found to regulate mitosis in any life cycle form. Here, we report the biochemical and functional characterization of the microtubule-severing enzyme spastin in the procyclic form of .
View Article and Find Full Text PDFSSNA-1 is a fibrillar protein localized at the area where dynamic microtubule remodeling occurs including centrosomes. Despite the important activities of SSNA1 to microtubules such as nucleation, co-polymerization, and lattice sharing microtubule branching, the underlying molecular mechanism have remained unclear due to a lack of structural information. Here, we determined the cryo-EM structure of SSNA-1 at 4.
View Article and Find Full Text PDFCureus
December 2024
Pathology, Avalon University School of Medicine, Willemstad, CUW.
Dermatofibrosarcoma protuberans (DFSP) is a rare, locally invasive cutaneous sarcoma with a high propensity for recurrence, even following complete surgical excision. DFSP exhibits a low metastatic potential and is characterized by a distinctive honeycomb-like architecture composed of uniformly arranged spindle cells that frequently show CD34 immunostaining. Common surgical approaches include wide local excision (WLE), Mohs micrographic surgery (MMS), and, in severe cases, amputation.
View Article and Find Full Text PDFJ Orthop Case Rep
January 2025
Department of Orthopaedics, Mahatma Gandhi Medical College and Hospital, Jaipur, Rajasthan, India.
Introduction: Low-grade myofibroblastic sarcoma (LGMS) is an atypical and extremely infrequent type of tumor, primary mass being usually present in subcutaneous and soft tissue. Bony involvement is very rare. It has a very high chance of recurrence locally due to its aggressive biological behavior, metastasis in other parts of body is rarely seen.
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