The tests we perform

Molecular Pathology

ASPSCR1-TFE3 RT-PCR)

BCOR-CCNB3 (RT-PCR)

C-MYC gene amplification (FISH)

CIC gene rearrangement (FISH)

DDIT3 (CHOP) gene rearrangement (FISH)

ETV6-NTRK3 (RT-PCR)
EWSR1 gene rearrangement (FISH)
EWSR1-ATF1 type 1 EWSR1-ATF1 type 2, EWSR1-ATF1 type 3 (RT-PCR)
EWSR1-NR4A3 type 1, EWSR1-NR4A3 type 2, EWSR1-NR4A3 type 3 (RT-PCR)
EWSR1-CREB1 
(RT-PCR)

EWSR1-CREB3L1 / EWSR1-CREB3L2 (RT-PCR)

EWSR1-CREM (RT-PCR)

EWSR1-ERG (RT-PCR)
EWSR1-FLI1 type1 / EWSR1-FLI1 type 2 /EWSR1-FLI1 type 3 / other rare EWSR1-FLI1 variants (RT-PCR)
EWSR1-WT1 (RT-PCR)

FUS gene rearrangement (FISH)
FUS-CREB3L2/ FUS-CREB3L1 (RT-PCR)
FUS-DDIT3 (RT-PCR)

HEY1-NCOA2 fusion gene (RT-PCR)

JAZF1-SUZ12 (RT-PCR)

JAZF1 gene rearrangement (FISH)
MDM2 gene amplification (FISH)

NAB2-STAT6 (RT-PCR)

NR4A3 gene rearrangement (FISH)
PAX 3-FOXO1 ( RT-PCR)
PAX 7-FOXO1 ( RT-PCR)
SS18 gene rearrangement (FISH)
SS18-SSX1 and SS18-SSX2
(RT-PCR)
TAF2N-NR4A3 (RT-PCR)
USP6 gene rearrangement (FISH)

YWHAE-NUTM2 (RT-PCR)

List of test provided by diagnosis:

Alveolar rhabdomyosarcoma: FOXO1 gene rearrangement (FISH), PAX 3-FOXO1, PAX 7-FOXO1
(FISH and RT-PCR)

Alveolar soft part sarcoma: ASPSCR1-TFE3 (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)
Clear cell sarcoma: EWSR1 gene rearrangement (FISH), EWSR1-ATF1 type 1 EWSR1-ATF1 type 2, EWSR1-ATF1 type 3, AND EWSR1-CREB1 (RT-PCR)

Desmoplastic small round cell tumour: EWSR1 gene rearrangement (FISH), EWSR1-WT1 (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-FLI1 Type 3, EWSR1-ERG and rare variants (RT-PCR)

Ewing-like sarcoma: BCOR-CCNB3 (RT-PCR), CIC gene rearrangement (FISH), CIC-DUX4 (RT-PCR)

Haemangiopericytoma: NAB2-STAT6 (RT-PCR)

High-grade endometrial stromal sarcoma: YWHAE-NUTM2 and other rare variants (RT-PCR)

Intimal sarcoma: MDM2 gene amplification (FISH)

Low-grade endometrial stromal sarcoma: JAZF1 gene rearrangement (FISH), JAZF1-SUZ12 (RT-PCR)

Low-grade fibromyxoid sarcoma/sclerosing epithelioid fibrosarcoma: FUS gene rearrangement (FISH), EWSR1 gene rearrangement, FUS-CREB3L2, FUS-CREB3L1, EWSR1-CREB3L1, EWSR1-CREB3L2(RT-PCR)

Low-grade central osteosarcoma: MDM2 gene amplification (FISH)

Mesenchymal chondrosarcoma: HEY1-NCOA2 fusion gene (RT-PCR)

Myxoid liposarcoma: FUS gene rearrangement (FISH), EWSR1 gene rearrangement, DDIT3 (CHOP) gene rearrangement (FISH), FUS-DDIT3, EWSR1-DDIT3 (RT-PCR
Nodular fasciitis: USP6 gene rearrangement (FISH),

Solitary fibrous tumour: NAB2-STAT6

Paraosteal osteosarcoma: MDM2 gene amplification (FISH)
Synovial sarcoma: SS18 gene rearrangement (FISH), SS18-SSX1 SS18-SSX2
(RT-PCR)

Immunohistochemistry

The immunohistochemistry service offers a number of sarcoma specific immuno markers as well as routinely used markers. All tests are performed on an automated Roche Ultra machine. We also offer a number of immunohistochemistry markers for research purposes only.