Background: We present a case of an rearranged sarcoma in the left forearm and analyze its clinicopathological and molecular features.
Case Summary: The patient is a 23-year-old woman. Microscopically, the tumor cells were medium-sized round cells arranged in small nests. The cytoplasm was clear, nuclei were relatively uniform, chromatin was dense, nucleoli were visible, and mitotic figures were rare. Immunohistochemically, the tumor cells were positive for Vimentin, INI-1, CD99, NKX2.2, CyclinD1, friend leukaemia virus integration 1, and NKX3.1. Next-generation sequencing revealed the presence of the fusion gene. rearranged sarcomas are rare and can easily be misdiagnosed.
Conclusion: Clinical imaging, immunohistochemistry, and molecular pathology should be considered to confirm the diagnosis.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11185342 | PMC |
| http://dx.doi.org/10.12998/wjcc.v12.i16.2887 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Primary renal BCOR::CCNB3 sarcoma in a female patient: case report.
J Pathol Transl Med
January 2025
Department of Pathology, Ulsan University Hospital, Ulsan, Korea.
BCOR-rearranged sarcoma was classified by the World Health Organization in 2020 as a new subgroup of undifferentiated small round-cell sarcoma. It is known to occur very rarely in the kidney. This report presents the first case of a primary renal BCOR::CCNB3 sarcoma in a 22-year-old woman.
View Article and Find Full Text PDFOngoing chromothripsis underpins osteosarcoma genome complexity and clonal evolution.
Cell
January 2025
European Molecular Biology Laboratory, European Bioinformatics Institute, Hinxton CB10 1SA, UK. Electronic address:
Osteosarcoma is the most common primary cancer of the bone, with a peak incidence in children and young adults. Using multi-region whole-genome sequencing, we find that chromothripsis is an ongoing mutational process, occurring subclonally in 74% of osteosarcomas. Chromothripsis generates highly unstable derivative chromosomes, the ongoing evolution of which drives the acquisition of oncogenic mutations, clonal diversification, and intra-tumor heterogeneity across diverse sarcomas and carcinomas.
View Article and Find Full Text PDFSingle-molecule toxicogenomics: Optical genome mapping of DNA-damage in nanochannel arrays.
DNA Repair (Amst)
January 2025
School of Chemistry, Raymond and Beverly Sackler Faculty of Exact Sciences, Tel Aviv University, Tel Aviv 6997801, Israel; Edmond J. Safra Center for Bioinformatics, Tel Aviv University, Tel Aviv 6997801, Israel; Department of Biomedical Engineering, Fleischman Faculty of Engineering, Tel Aviv University, Tel Aviv 6997801, Israel. Electronic address:
Quantitative genomic mapping of DNA damage may provide insights into the underlying mechanisms of damage and repair. Sequencing based approaches are bound to the limitations of PCR amplification bias and read length which hamper both the accurate quantitation of damage events and the ability to map them to structurally complex genomic regions. Optical Genome mapping in arrays of parallel nanochannels allows physical extension and genetic profiling of millions of long genomic DNA fragments, and has matured to clinical utility for characterization of complex structural aberrations in cancer genomes.
View Article and Find Full Text PDFOssifying fibromyxoid tumours: A case series.
Eur J Cancer
January 2025
Department of Medical Oncology, The Royal Marsden NHS Foundation Trust, London, UK; Institute of Cancer Research, London, UK. Electronic address:
Background: Ossifying fibromyxoid tumour is a rare mesenchymal soft tissue sarcoma with uncertain differentiation and variable metastatic potential.
Patients And Methods: This study offers a retrospective analysis of 23 patients diagnosed with OFMT between 1993 and 2024.
Results: The tumours most commonly arose in the extremities and trunk, with all patients undergoing surgical resection of the primary tumour.
TPM3::NTRK1-rearranged uterine sarcoma: case report and literature review.
Int J Clin Exp Pathol
December 2024
Department of Pathology, West China Second University Hospital, Sichuan University Chengdu, Sichuan, China.
Neurotrophic tyrosine kinase receptor (NTRK)-rearranged uterine sarcoma is a rare type of uterine sarcoma. This paper presents a case of a 49-year-old female who was admitted to the hospital due to lower abdominal pain and subsequently diagnosed with tropomyosin 3 (TPM3)::NTRK1-rearranged uterine sarcoma. To our knowledge, TPM3::NTRK1-rearranged sarcomas almost always occur in the cervix, and this is a novel case of uterine corpus occurrence.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!