The molecular pathology service offers ancillary diagnostic tests for bone and soft tissue tumours on paraffin-embedded material and frozen (listed below). Tests are also provided for research and clinical trials.

  • ASPSCR1::TFE3 (RT-PCR)
  • BCOR::CCND3 (RT-PCR)
  • CIC gene rearrangement (FISH)
  • MYC gene amplification (FISH)
  • COL1A1::PDGFB fusion (FISH)
  • CTNNB1 (β− Catenin) - Specific mutation analysis: Thr41Ala, Ser45Pro, Ser45Phe
  • DDIT3 (CHOP) gene rearrangement (FISH)
  • EWSR1 gene rearrangement (FISH)
  • EWSR1::ATF1 type 1 EWSR1::ATF1 type 2, EWSR1::ATF1 type 3 (RT-PCR)
  • EWSR1::ATF1 (RT-PCR)
  • EWSR1::NR4A3 type 1, EWSR1::NR4A3 type 2, EWSR1::NR4A3 type 3 (RT-PCR)
  • EWSR1::CREB1 (RT-PCR)
  • EWSR1::ERG (RT-PCR)
  • EWSR1::FLI1 type1 / EWSR1::FLI1 type 2 (RT-PCR)
  • EWSR1::WT1 (RT-PCR)
  • FOXO1 gene rearrangement (FISH)
  • FUS gene rearrangement (FISH)
  • FUS::CREB3L2 (RT-PCR)
  • FUS::DDIT3 (RT-PCR)
  • GNAS1 - specific mutation analysis: Arg201Cys, Arg201His, Gln227Leu
  • HEY1::NCOA2 fusion gene (RT-PCR)
  • MDM2 gene amplification (FISH)
  • NR4A3 gene rearrangement (FISH)
  • PAX3::FOXO1 (FISH and RT-PCR)
  • PAX7::FOXO1 (FISH and RT-PCR)
  • SS18 gene rearrangement (FISH)
  • SS18::SSX1 and SS18::SSX2 (RT-PCR)
  • TAF2N::NR4A3 (RT-PCR)
  • USP6 gene rearrangement (FISH)
  • USP6::MYH9 (RT-PCR)
  • WT1 gene rearrangement (FISH)
  • WWTR1::CAMTA1 (RT-PCR)

  • Alveolar soft part sarcoma: ASPSCR1::TFE3 (RT-PCR)
  • Alveolar rhabdomyosarcoma: FOXO1 gene rearrangement (FISH), PAX3::FOXO1, PAX7::FOXO1 (FISH and RT-PCR)
  • Aneurysmal bone cyst: USP6 gene rearrangement (FISH)
  • Angiomatoid fibrous histiocytoma: EWSR1 gene rearrangement (FISH), EWSR1::CREB1 and EWSR1::ATF1 (RT-PCR)
  • Angiosarcoma, radiation-induced: MYC gene amplification (FISH)
  • Atypical lipomatous tumour/well differentiated liposarcoma/dedifferentiated liposarcoma: MDM2 gene amplification (FISH)
  • CIC::DUX4 fusion-positive round-cell sarcomas: CIC gene rearrangement (FISH)
  • Clear cell sarcoma: EWSR1 gene rearrangement (FISH), EWSR1::ATF1 and EWSR1::CREB1 (RT-PCR)
  • Dermatofibrosarcoma protuberans: COL1A1::PDGFB fusion (FISH)
  • Desmoid-type fibromatosis: CTNNB1 (β− Catenin) - substitutions, Specific mutation analysis: Thr41Ala, Ser45Pro, Ser45Phe.
  • Desmoplastic small round cell tumour: EWSR1 gene rearrangement (FISH), WT1 gene rearrangement (FISH), EWSR1::WT1 (RT-PCR)
  • Epithelioid hemangioendothelioma: WWTR1::CAMTA1 (RT-PCR)
  • Extraskeletal myxoid chondrosarcomas: EWSR1 gene rearrangement (FISH), NR4A3 gene rearrangement (FISH), EWSR1::NR4A3, TAF2N::NR4A3 (RT-PCR)
  • Ewing sarcoma: EWSR1 gene rearrangement (FISH), EWSR1::FLI1, EWSR1::ERG and rare variants (RT-PCR)
  • Fibrous dysplasia: GNAS1 - substitutions. Specific mutation analysis: Arg201Cys, Arg201His, Gln227Leu
  • Intramuscular myxoma: GNAS1 - substitutions. Specific mutation analysis: Arg201Cys, Arg201His, Gln227Leu
  • Low-grade fibromyxoid sarcoma: FUS gene rearrangement (FISH), FUS::CREB3L2 (RT-PCR)
  • Mesenchymal chondrosarcoma: HEY1::NCOA2 (RT-PCR)
  • Myxoid liposarcoma: FUS gene rearrangement (FISH), DDIT3 (CHOP) gene rearrangement (FISH), FUS::DDIT3 (RT-PCR)
  • Nodular fasciitis: USP6 gene rearrangement (FISH), USP6::MYH9 (RT-PCR)
  • Paraosteal osteosarcoma: MDM2 gene amplification (FISH)
  • Small round cell sarcomas lacking EWSR1 gene rearrangement: BCOR::CCND3 (RT-PCR)
  • Synovial sarcoma: SS18 gene rearrangement (FISH), SS18::SSX1 SS18::SSX2 (RT-PCR)