Table 1 Clinical, immunohistochemical and molecular data of the three CNS tumors with CREBBP(EP300): BCORL1 fusion, including the present case
Sex /age | Site | Original diagnosis | IHC | BCOR nuclear expression | BCORL1 fusion | DNA Methylation class | CNV | Follow-up (mo) | Reference |
|---|---|---|---|---|---|---|---|---|---|
M/45 | Fr | CNS tumor CREBBP::BCORL1 | GFAP-/+, OLIG2-/+, NeuN+/- EMA - | No | CREBBP (ex 31):: BCORL1(ex5) | CNS tumor with EP300::BCOR(L1) fusion (0.90, v12.5) | Chr 7 gain, chr 20 loss | Recent case | Current study |
F/17 | Fr | Diffuse glioma | GFAP-/+, OLIG2+, EMA - | Yes | CREBBP (ex 31):: BCORL1(ex6) | CNS tumor with EP300::BCOR(L1) fusion (0.99, v12.5) | Chr 7 gain | Multiple R (18,33,89) DOD (115) | [16] |
M/72 | O | Ependymoma grade 3 | NA | NA | EP300 (ex 31):: BCORL1(ex4) | CNS tumor with EP300::BCOR(L1) fusion (0.98, v12.5) | Chr 7 gain, gain at chr 1q, 3p, 9q | R (24), alive (33) | [4] |