title: Intraparenchymal mesenchymal chondrosarcoma of the frontal lobe--a case report and molecular detection of specific gene fusions from archival FFPE sample.
abstract: Mesenchymal chondrosarcoma is a rare tumor of cartilaginous origin characterized by its bimorphic pattern composed of highly undifferentiated small round cells separated by islands of well-differentiated hyaline cartilage. It exhibits higher malignancy and earlier occurrence in comparison to classic chondrosarcomas. Recently identified HEY1-NCOA2 and IRF2BP2-CDX1 gene fusions confirm their distinct molecular origin and pose a promising diagnostic marker. The majority of cases arise from craniofacial bones. In this study, we present a rare case of mesenchymal chondrosarcoma encompassed within the brain parenchyma of the frontal lobe without any dural or bone attachment. We demonstrate histopathological findings and confirm the HEY1-NCOA2 gene fusion in a formalin-fixed paraffin-embedded archival sample using simple reverse transcription polymerase chain reaction (RT-PCR) method. IRF2BP2-CDX1 gene fusion was absent in the analyzed sample. The clinical follow-up is also presented with a review of treatment modalities for this entity.
authors.forename: Emir Ahmed
authors.initials: EA
authors.lastname: Sajjad
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Sikora
authors.forename: Tomasz
authors.initials: T
authors.lastname: Paciejewski
authors.forename: Filip
authors.initials: F
authors.lastname: Garbicz
authors.forename: Wiktor
authors.initials: W
authors.lastname: Paskal
authors.forename: Milena
authors.initials: M
authors.lastname: Szacht
authors.forename: Wieslawa
authors.initials: W
authors.lastname: Grajkowska
authors.forename: Pawel Krzysztof
authors.initials: PK
authors.lastname: Włodarski
mesh_terms: D000328:Adult; D001932:Brain Neoplasms / Q000235:genetics / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics; D018211:Chondrosarcoma, Mesenchymal / Q000235:genetics / Q000473:pathology*; D004268:DNA-Binding Proteins; D005260:Female; D005625:Frontal Lobe / Q000473:pathology*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics; D051958:Nuclear Receptor Coactivator 2 / Q000235:genetics; D050596:Oncogene Fusion; D014157:Transcription Factors
chemical_list: C491273:CDX1 protein, human; D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D018398:Homeodomain Proteins; C475082:IRF2BP2 protein, human; C498001:NCOA2 protein, human; D009687:Nuclear Proteins; D051958:Nuclear Receptor Coactivator 2; D014157:Transcription Factors