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Primary bone sarcoma with BCOR internal tandem duplication.

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  • معلومة اضافية
    • المصدر:
      Publisher: Springer International Country of Publication: Germany NLM ID: 9423843 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2307 (Electronic) Linking ISSN: 09456317 NLM ISO Abbreviation: Virchows Arch Subsets: MEDLINE
    • بيانات النشر:
      Original Publication: Berlin ; New York : Springer International, c1994-
    • الموضوع:
      Biomarkers, Tumor/*genetics ; Bone Neoplasms/*genetics ; Proto-Oncogene Proteins/*genetics ; Repressor Proteins/*genetics ; Sarcoma/*genetics; Adolescent ; Bone Neoplasms/diagnostic imaging ; Bone Neoplasms/drug therapy ; Bone Neoplasms/pathology ; Gene Duplication ; Humans ; Male ; Sarcoma/diagnostic imaging ; Sarcoma/drug therapy ; Sarcoma/pathology ; Tibia/diagnostic imaging ; Tibia/pathology
    • نبذة مختصرة :
      BCOR internal tandem duplications (ITDs) and rearrangements are implicated in the oncogenesis of a subset of undifferentiated sarcomas. To date, BCOR ITD sarcomas have been exclusively found in non-appendicular infantile soft tissues, whereas BCOR-rearranged sarcomas occur in both bones and soft tissues affecting a wider patient age range. Little is known about patient outcome in BCOR ITD sarcomas. We present a BCOR-expressing, primary bone, undifferentiated sarcoma case involving an adolescent male's left tibia that, unexpectedly, harbored a BCOR ITD instead of a BCOR rearrangement. Furthermore, the patient achieved a partial histologic response after receiving a Ewing sarcoma chemotherapy regimen. Our case expands the clinical spectrum of BCOR ITD sarcomas and suggests that childhood and adult BCOR-expressing sarcomas with an undifferentiated histology should be considered for both BCOR rearrangement and ITD screening. Accurate BCOR mutation identification in undifferentiated sarcomas is essential to define their clinical spectrum and to develop effective management strategies.
    • Grant Information:
      N/A American Lebanese Syrian Associated Charities
    • Contributed Indexing:
      Keywords: BCOR internal tandem duplication; Ewing-like sarcoma; Primitive sarcoma
    • الرقم المعرف:
      0 (BCOR protein, human)
      0 (Biomarkers, Tumor)
      0 (Proto-Oncogene Proteins)
      0 (Repressor Proteins)
    • الموضوع:
      Date Created: 20200105 Date Completed: 20200626 Latest Revision: 20200626
    • الموضوع:
      20231215
    • الرقم المعرف:
      10.1007/s00428-019-02729-z
    • الرقم المعرف:
      31900635