ArticleDiagnostic pathology2021
Detection of BCOR gene rearrangement in Ewing-like sarcoma: an important diagnostic tool.
Article in Diagnostic pathology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 12 citations in OpenAlex.
- First case description of a highly aggressive thoracopulmonary primitive neuroectodermal tumor in a Moroccan adult male.Annals of medicine and surgery (2012) · 2026Article
- Dedifferentiated Osteosarcoma of the Wrist With BCOR Sarcoma Component in a 22-Year-Old Patient: A Case Report.Case reports in orthopedics · 2026Article
- Molecular testing of soft tissue tumors.Diagnostic cytopathology · 2023Review
- Molecular classification of soft tissue sarcomas for adequate diagnosis: A study on the northeast population of Morocco.Heliyon · 2022Article
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10 authors at 4 institutions in 2 countries.
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Abstract
backgroundBCOR-CCNB3 sarcoma (BCS) is a group of undifferentiated small round cell sarcomas harboring the BCOR gene rearrangement which shares morphology with the Ewing sarcoma family as well as other malignant round blue cell tumors, thus making them difficult to diagnose. The aim of this study was to explore the role of molecular techniques in the diagnosis of BCS.
methodsTwenty-three cases of EWSR1 rearrangement-negative undifferentiated small round cell sarcomas (Ewing-like sarcoma) were analyzed for the presence of BCOR gene rearrangement by Fluorescence in situ hybridization (FISH) and Reverse Transcription -Polymerase Chain Reaction (RT-PCR). The clinicopathological features of the positive cases were also reviewed. Fifteen additional cases were used as negative controls.
resultsEight cases were found with BCOR gene rearrangement by FISH and reappraised as BCS. The patients ranged in age from 8 to 20 years old, with a male predominance (M:F = 6:2). All tumors were located in the lower extremities. The tumor locations were more common in bone (n = 6) than deep soft tissue (n = 2). Histologically, 7 of 8 tumors were predominately composed of spindle or ovoid cells. The tumor cells were usually arranged in solid hypercellular sheets without a distinct architectural pattern. IHC showed expression of TLE1 (100%), CCNB3 (88%), BCOR (71%). RT-PCR for BCOR-CCNB3 fusion transcript was positive in 7 of 8 cases. Pre-operative chemotherapy resulted in eradication of tumors in 5 patients after a follow-up of 7 to 42 months.
conclusionsEfficient diagnosis of BCOR rearranged sarcomas is achieved by the using a combination of FISH and RT-PCR assays.
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