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)
  • C-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: C-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 type 1 EWSR1-ATF1 type 2, EWSR1-ATF1 type 3, 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), EWSR1-WT1 (RT-PCR)
  • Epithelioid hemangioendothelioma: WWTR1-CAMTA1 (RT-PCR)
  • Extraskeletal myxoid chondrosarcomas: EWSR1 gene rearrangement (FISH), NR4A3 gene rearrangement (FISH), EWSR1-NR4A3 type 1, EWSR1-NR4A3 type 2, EWSR1-NR4A3 type 3, TAF2N-NR4A3 (RT-PCR)
  • Ewing sarcoma: EWSR1 gene rearrangement (FISH), EWSR1-FLI1 type1, EWSR1-FLI1 type 2, 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)