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Table 3 Genetic alterations in SWI/SNF complex genes in hematological malignancies

From: SWI/SNF complexes in hematological malignancies: biological implications and therapeutic opportunities

Category

Malignancy

Gene

Alteration

Freq.

References

B cell lymphomas

DLBCL

ARID1A

Mut.

7-9%

[7,8,9, 82, 83, 108, 112, 130, 132]

ARID1B

Mut.

7%

[7,8,9, 82, 83, 108, 112, 130, 132]

BCL7A

Mut.

6-12%

[7,8,9, 82, 83, 108, 112, 130, 132]

ACTB

Mut.

5-10%

[7,8,9, 82, 83, 108, 112, 130, 132]

SMARCA4

Mut.

1-5%

[7,8,9, 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, 135,136,137,138]

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, 144,145,146]

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, 149,150,151]

ARID1B

Mut. + Del.

4-11%

[110, 149,150,151]

SMARCA2

Mut. + Del.

19%b

[149]

SMARCA4

Mut. + Del.

8%b

[149]

SMARCA4

Amp.

19%a,b

[149]

CTCL

ARID1A

Del.

28-58%

[152,153,154,155]

ARID1A

Mut.

8%

[112, 152,153,154,155,156,157]

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%

[159,160,161,162,163]

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, 165,166,167]

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, 173,174,175,176]

  1. Alteration frequencies (Freq.) are approximate estimates or ranges based on our integration of multiple studies; see main text for more details
  2. 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
  3. aResults not reproduced by similar studies
  4. 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
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Molecular Cancer

ISSN: 1476-4598