Table 3.
Genetic alterations in SWI/SNF complex genes in hematological malignancies
| Category | Malignancy | Gene | Alteration | Freq. | References |
|---|---|---|---|---|---|
| B cell lymphomas | DLBCL | ARID1A | Mut. | 7-9% | [7–9, 82, 83, 108, 112, 130, 132] |
| ARID1B | Mut. | 7% | [7–9, 82, 83, 108, 112, 130, 132] | ||
| BCL7A | Mut. | 6-12% | [7–9, 82, 83, 108, 112, 130, 132] | ||
| ACTB | Mut. | 5-10% | [7–9, 82, 83, 108, 112, 130, 132] | ||
| SMARCA4 | Mut. | 1-5% | [7–9, 82, 83, 108, 112, 130, 132] | ||
| FL | ARID1A | Mut. | 6-15% | [108, 112, 133, 134] | |
| SMARCA4 | Mut. | 5-8% | [108, 112, 133, 134] | ||
| BCL7A | Mut. | 4-19% | [108, 112, 133, 134] | ||
| BL | ARID1A | Mut. | 15-45% | [112, 122, 135, 136] | |
| SMARCA4 | Mut. | 14-38% | [108, 112, 122, 135–138] | ||
| BCL7A | Mut. | 7% | [108, 138] | ||
| HL | ARID1A | Mut. | 9-26%b | [112, 139, 140] | |
| ACTB | Mut. | 26%b | [140] | ||
| PMBL | ACTB | Mut. | 33% | [141] | |
| MCL | SMARCA4 | Mut. | 6-10% | [108, 112, 142, 143] | |
| ARID1A | Mut. | 3-6% | [108, 112, 142, 143] | ||
| ARID1B | Mut. | 3-6% | [108, 112, 142, 143] | ||
| ARID2 | Mut. | 3-6% | [108, 112, 142, 143] | ||
| MZL | ARID1A | Mut. | 7% | [112, 144–146] | |
| ARID1B | Mut. | 4% | [112, 144, 145] | ||
| LPL | ARID1A | Mut. | 5-17% | [112, 147, 148] | |
| LPL: WM | ARID1B | Del. | 50%b | [148] | |
| T and NK cell lymphomas | PTCL, NOS | ARID1A | Mut. + Del. | 8-25% | [110, 112, 149] |
| ARID2 | Mut. + Del. | 2-14% | [110, 112, 149–151] | ||
| ARID1B | Mut. + Del. | 4-11% | [110, 149–151] | ||
| SMARCA2 | Mut. + Del. | 19%b | [149] | ||
| SMARCA4 | Mut. + Del. | 8%b | [149] | ||
| SMARCA4 | Amp. | 19%a,b | [149] | ||
| CTCL | ARID1A | Del. | 28-58% | [152–155] | |
| ARID1A | Mut. | 8% | [112, 152–157] | ||
| SMARCE1 | Amp. | 20%b | [153] | ||
| SMARCD2 | Amp. | 20%b | [153] | ||
| ARID2 | Del. | 8%b | [153] | ||
| CTCL: MF | BCL7A | Del. | 44%a | [158] | |
| ENKTL | ARID1A | Mut. | 6% | [159–163] | |
| HSTCL | ARID1B | Mut. | 18% | [109] | |
| SMARCA2 | Mut. | 10% | [109] | ||
| EATL | BCL11B | Mut. | 12% | [164] | |
| B and T cell leukemias | B-ALL | ACTB | Mut. + Del. | < 1% | [165, 166] |
| ARID1A | Mut. + Del | < 1% | [166] | ||
| ARID2 | Mut. + Del | < 5% | [165, 166] | ||
| BICRAL | Mut. | < 1% | [165] | ||
| T-ALL | ARID1A | Mut. | 3% | [165, 166] | |
| BCL11B | Mut. | 8-10% | [98, 112, 165–167] | ||
| SMARCA4 | Mut. | 3% | [165, 166] | ||
| T-PLL | SMARCB1 | Del. | 55%b | [168, 169] | |
| CLL | ARID1A | Mut. | < 5% | [112, 113] | |
| ALAL | BCL11B | Amp. + Trl. | 33%b | [99, 100] | |
| Myeloid / dendritic cell malignancies | APL | ARID1A | Mut. | 5% | [84] |
| ARID1B | Mut. | 3% | [84] | ||
| CML | SMARCB1 | Del. | 30-80%b | [91, 170] | |
| MDS | ARID2 | Mut. + Del. | 2% | [171] | |
| All SWI/SNF | Mut. | 17.8%a | [172] | ||
| BPDCN | ARID1A | Mut. | 11% | [111, 112, 173–176] |
Alteration frequencies (Freq.) are approximate estimates or ranges based on our integration of multiple studies; see main text for more details
Amp. amplification, Del. deletion, Mut. point mutation, Trl. translocation, AITL angioimmunoblastic T cell lymphoma, ALAL acute leukemia of ambiguous lineage, ALL acute lymphoblastic leukemia, APL acute promyelocytic leukemia, BL Burkitt lymphoma, BPDCN blastic plasmacytoid dendritic cell neoplasm, CLL chronic lymphocytic leukemia, CML chronic myeloid leukemia, CTCL cutaneous T cell lymphoma, DLBCL diffuse large B cell lymphoma, EATL enteropathy-associated T cell lymphoma, ENKTL extranodal NK/T cell lymphoma, FL follicular lymphoma, HL Hodgkin lymphoma, HSTCL hepatosplenic T cell lymphoma, LPL Lymphoplasmacytic lymphoma, MCL mantle cell lymphoma, MDS myelodysplastic syndrome, MF mycosis fungoides, MZL marginal zone lymphoma, PLL prolymphocytic leukemia, PMBL primary mediastinal large B-cell lymphoma, PTCL, NOS peripheral T cell lymphoma, not otherwise specified, WM Waldenström macroglobulinemia
aResults not reproduced by similar studies
bResults were obtained in cohorts of limited size (N < 50) and/or lacking matched normal samples, and therefore estimated percentages may be inaccurate. In the case of ALAL, it is a highly heterogeneous disease and the estimated frequency of BCL11B alterations may heavily depend on the patient inclusion criteria