Table 2.
All Fusions Identified by CHOP Fusion Panel in Validation Samples
| Sample ID | Fusion detected | Junction exons | Clinical indication | Sample type |
|---|---|---|---|---|
| V1 | NUP214-ABL1 | NUP214 (NM_005085.3):exon 32/ABL1 (NM_005157.5):exon2 | Acute lymphoblastic leukemia | Bone marrow |
| V2 | ETV6-ABL1 | ETV6 (NM_001987.4):exon 5/ABL1 (NM_005157.5):exon 2 | Acute lymphoblastic leukemia | Bone marrow |
| V3 | ZMIZ1-ABL1 | ZMIZ1 (NM_020338.3):exon 18/ABL1 (NM_005157.5):exon 2 | Acute lymphoblastic leukemia | Bone marrow |
| V4 | RANBP2-ABL1 | RANBP2 (NM_006267.4):exon 18/ABL1 (NM_005157.5):exon 2 | Acute lymphoblastic leukemia | Bone marrow |
| V5 | RCSD1-ABL2 | RCSD1 (NM_052862.3):exon 3/ABL2 (NM_007314.3):exon 5 | Acute lymphoblastic leukemia | Bone marrow |
| V6 | ZC3HAV1-ABL2 | ZC3HAV1 (NM_020119.3):exon 12/ABL2 (NM_007314.3):exon 3 | Acute lymphoblastic leukemia | Bone marrow |
| V7 | SSBP2-CSF1R | SSBP2 (NM_012446.3): exon 15/CSF1R (NM_005211.3):exon 12 | Acute lymphoblastic leukemia | Bone marrow |
| V8 | EBF1-PDGFRB | EBF1 (NM_024007.3): exon 15/PDGFRB (NM_002609.3):exon 11 | Acute lymphoblastic leukemia | Bone marrow |
| V9 | BCR-JAK2 | BCR (NM_004327.3):exon 1/JAK2 (NM_004972.3):exon 19 | Acute lymphoblastic leukemia | Bone marrow |
| V10 | PAX5-JAK2 | PAX5 (NM_016734.2):exon 5/JAK2 (NM_004972.3):exon 19 | Acute lymphoblastic leukemia | Bone marrow |
| V11 | RCSD1-ABL1 | RCSD1 (NM_052862.3):exon 2/ABL1 (NM_005157.5):exon 4 | Acute lymphoblastic leukemia | Bone marrow |
| V12 | FOXP1-ABL1 | FOXP1 (NM_032682.5):exon 19/ABL1 (NM_005157.5):exon 4 | Acute lymphoblastic leukemia | Bone marrow |
| V13 | NUP153-ABL1∗ | NUP153 (NM_005124.3):exon 11/ABL1 (NM_005157.5):exon 4 | Acute lymphoblastic leukemia | Bone marrow |
| V14 | SPTAN1-ABL1∗ | SPTAN1 (NM_003127.3): exon 2/ABL1 (NM_005157.5):exon 4 | Acute lymphoblastic leukemia | Bone marrow |
| STIL-TAL1 | STIL (NM_003035.2): exon 1/TAL1 (NM_003189.5):exon 5 | Acute lymphoblastic leukemia | Bone marrow | |
| V15 | P2RY8-CRLF2 | P2RY8 (NM_178129.4): exon 1/CRLF2 (NM_022148.3): exon 1 | Acute lymphoblastic leukemia | Bone marrow |
| V16 | EPOR-IGH | EPOR (NM_000121.3): exon 8/IGH (NC_000014):exon 1 | Acute lymphoblastic leukemia | Bone marrow |
| V17 | IGH-CRLF2 | ?/CRLF2 (NM_022148.3):exon 1 | Acute lymphoblastic leukemia | Bone marrow |
| PAX5-ZCCHC7∗ | PAX5 (NM_016734.2):exon 6/ZCCHC7 (NM_032226.2):exon 3 | |||
| V18 | ETV6-JAK2 | ETV6 (NM_001987.4):exon 4/JAK2 (NM_004972.3):exon 17 | Acute lymphoblastic leukemia | Bone marrow |
| V19 | TERF2-JAK2 | TERF2 (NM_005652.4):exon 8/JAK2 (NM_004972.3):exon 19 | Acute lymphoblastic leukemia | Bone marrow |
| V20 | ATF7IP-PDGFRB∗ | ATF7IP (NM_018179.4):exon 9/PDGFRB (NM_002609.3):exon 11 | Acute lymphoblastic leukemia | Bone marrow |
| V21 | ETV6-NTRK3 | ETV6 (NM_001987.4):exon 5/NTRK3 (NM_002530.3):exon 15 | Acute lymphoblastic leukemia | Bone marrow |
| V22 | CENPC-ABL1∗ | CENPC (NM_001812.2):exon 5/ABL1 (NM_005157.5):exon 2 | Acute lymphoblastic leukemia | Bone marrow |
| V23 | SSBP2-JAK2 | SSBP2 (NM_012446.3):exon 15/JAK2 (NM_004972.3):exon 13 | Acute lymphoblastic leukemia | Bone marrow |
| V24 | ZNF274-JAK2∗ | ZNF274 (NM_133502.2):exon 4/JAK2 (NM_004972.3):exon 17 | Acute lymphoblastic leukemia | Bone marrow |
| V25 | ATF7IP-JAK2 | ATF7IP (NM_018179.4):exon 13/JAK2 (NM_004972.3):exon 17 | Acute lymphoblastic leukemia | Bone marrow |
| V26 | PAG1-ABL2 | PAG1 (NM_018440.3):exon 8/ABL2 (NM_007314.3):exon 5 | Acute lymphoblastic leukemia | Bone marrow |
| PAX5-JAK2 | PAX5 (NM_016734.2):exon 5/JAK2 (NM_004972.3):exon 19 | |||
| V27 | ZEB2-PDGFRB | ZEB2 (NM_014795.3):exon 9/PDGFRB (NM_002609.3):exon 9 | Acute lymphoblastic leukemia | Bone marrow |
| V28 | KIAA1549-BRAF | KIAA1549 (NM_020910.2):exon 15/BRAF (NM_004333.4):exon 9 | Brain tumor | FFPE |
| V29 | KIAA1549-BRAF | KIAA1549 (NM_020910.2):exon 16/BRAF (NM_004333.4):exon 9 | Brain tumor | FFPE |
| V30 | KIAA1549-BRAF | KIAA1549 (NM_020910.2): exon 15/BRAF (NM_004333.4):exon 9 | Brain tumor | FFPE |
| V31 | EPOR-IGH | EPOR (NM_000121.3):exon 8/IGH (NC_000014):exon 1 | Acute lymphoblastic leukemia | Bone marrow |
| V32 | P2RY8-CRLF2 | P2RY8 (NM_178129.4):exon 1/CRLF2 (NM_022148.3):exon 1 | Acute lymphoblastic leukemia | Bone marrow |
| V33 | P2RY8-CRLF2 | P2RY8 (NM_178129.4):exon 1/CRLF2 (NM_022148.3):exon 1 | Acute lymphoblastic leukemia | Bone marrow |
| V34 | IGH-CRLF2 | ?/CRLF2 (NM_022148.3):exon 1 | Acute lymphoblastic leukemia | Bone marrow |
| C1 | EWSR1-CREB1 | EWSR1 (NM_005243.3):exon 7/CREB1 (NM_004379.4):exon 6 | Angiomatoid fibrous histiocytoma | FFPE |
| C2 | NOTCH1-ROS1∗ | NOTCH1 (NM_017617.3):exon 30/ROS1 (NM_002944.2):exon 34 | Angiosarcoma | FFPE |
| C3 | KMT2A-ARHGEF12 | KMT2A (NM_005933.3):exon 10/ARHGEF12 (NM_015313.2):exon 12 | Burkitt lymphoma | Frozen tissue |
| C4 | CIC-DUX4 | CIC (NM_015125.4):exon 20/DUX4 (NM_033178.2):exon 1 | Small round cell malignancy | FFPE |
| C5 | WFS1-PLAG1∗ | WFS1 (NM_006005.3):exon 1/PLAG1 (NM_002655.2):exon 3 | Anaplastic astrocytoma | Frozen tissue |
| C6 | KIAA1549-BRAF | KIAA1549 (NM_020910.2):exon 16/BRAF (NM_004333.4):exon 9 | Brain tumor | FFPE |
| C7 | GOLGA5-JAK2∗ | GOLGA5 (NM_005113.3):exon 10/JAK2 (NM_004972.3):exon 19 | Acute lymphoblastic leukemia | Bone marrow |
All NM_numbers are searchable in Nuccore (https://www.ncbi.nlm.nih.gov/nuccore, last accessed May 30, 2019). Fusions not detected by previous tests are shown in bold.
CHOP, Children's Hospital of Philadelphia; FFPE, formalin fixed, paraffin embedded; ID, identification.
∗
Novel fusions.