Pediatric Sarcomas With BCOR and C1C Aberrations: Advanced Diagnosis and Treatment Outcomes.
Context.--Undifferentiated round cell sarcomas (URCSs) are tumors of bone and soft tissue that are heterogeneous in terms of driver events and diverse in their clinical course. Objective.--To compare the pediatric BCL6 corepressor (BCOR) and capicua transcriptional repressor (C/C) sarcomas clinicall...
| Published in: | Archives of Pathology & Laboratory Medicine Vol. 150; no. 6; pp. 457 - 465 |
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| Main Authors: | , , , , , , , , , |
| Format: | research tables/charts Journal Article |
| Published: |
College of American Pathologists
Jun2026
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| Online Access: | View this record in EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=194422028&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 194422028 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00039985 1FS jtl: Archives of Pathology & Laboratory Medicine issn: 00039985 maglogo: N pubinfo: dt: Jun2026 vid: 150 iid: 6 pid: 2550 pub: College of American Pathologists place: Northfield, Illinois artinfo: ui: 194422028 194422028 194422028 10.5858/arpa.2025-0055-OA 194422028 ppf: 457 ppct: 8 formats: fmt: @attributes: type: P tig: atl: Pediatric Sarcomas With BCOR and C1C Aberrations: Advanced Diagnosis and Treatment Outcomes. aug: au: Panferova, Agnesa Sinichenkova, Ksenia Abasov, Ruslan Sidorov, Ilya Usman, Natalia Chernev, Alexey Litvinov, Dmitry Karachunskiy, Alexander Grachev, Nikolai Druy, Alexander affil: Laboratory of Molecular Biology, Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia sug: subj: Childhood Neoplasms Sarcoma Diagnosis Sarcoma Familial and Genetic Sarcoma Therapy Treatment Outcomes Tumor Markers, Biological Oncogenes Transcription Factors Molecular Diagnostic Techniques Methods Human Funding Source Russia Male Female Infant Child, Preschool Child Adolescence Retrospective Design Record Review Prospective Studies RNA Sequence Analysis Reverse Transcriptase Polymerase Chain Reaction Gene Expression Profiling Bioinformatics Immunohistochemistry Descriptive Statistics Data Analysis Software Kaplan-Meier Estimator Overall Survival Log-Rank Test Progression-Free Survival Genetic Screening Neoplastic Processes Disease Progression Neoplasm Metastasis Bone Neoplasms Soft Tissue Neoplasms Cluster Analysis Lymph Nodes Infant: 1-23 months Child, Preschool: 2-5 years Child: 6-12 years Adolescent: 13-18 years Male Female ab: Context.--Undifferentiated round cell sarcomas (URCSs) are tumors of bone and soft tissue that are heterogeneous in terms of driver events and diverse in their clinical course. Objective.--To compare the pediatric BCL6 corepressor (BCOR) and capicua transcriptional repressor (C/C) sarcomas clinically while assessing the utility of advanced diagnostic algorithms. Design.--Forty-two histologically diagnosed undifferentited round cell sarcomas were molecularly characterized using polymerase chain reaction assay, RNA sequencing, and/or NanoString digital bar code technology. Results.--The diagnosis of BCOR sarcoma was confirmed in 23 cases, including 17 cases of BCOR::cyclin B3 (CCNB3), 2 cases of BCOR internal tandem duplication, and single cases of BCOR::mastermind like transcriptional coactivator 3 (MAML3) and tyrosine 3-monooxygenase/ tryptophan 5-monooxygenase activation protein epsilon (YWHAE)::NUT family member 2B (NUTM2B); in 2 cases, the verification was based on gene expression profiles. The primary lesion was localized intraosseously (15 cases; 65%) or originated from soft tissues (8 cases; 35%). Three-year overall survival was 96.0% ± 0.04%. The diagnosis of CIC sarcoma was confirmed in 14 cases, including 5 cases of CTC::double homeobox 4 (DUX4), 4 cases of CIC exon 21 fused to an intergenic region, 2 cases of CTC::double homeo-box 4 like 9 (pseudogene) (DUX4L9) and 1 case of CIC:: NUTM2B; in 2 cases, verification was based on gene expres-sion profiles. The primary lesion was localized in soft tissues (12 cases; 86%) or intraosseously (2 cases; 14%). Three-year overall survival was 34.4% ± 16.0%. Conclusions.--Despite the relatively favorable outcomes in BCOR sarcomas, the relapse rate is considerable, whereas pediatric patients with CIC sarcoma typically develop meta-static disease and have poor outcomes. The data provide a prospective foundation for genetically based therapeutic strategies and risk stratification. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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