Table 3 Disease-associated variant frequencies of each gene identified organized by diagnostic category.

From: Targeted massively parallel sequencing of mature lymphoid neoplasms: assessment of empirical application and diagnostic utility in routine clinical practice

Diagnostic category

Subcategory

Proportion of cases with DAVs

Mutated genes (% of total per category)

Mature B-cell neoplasms

Diffuse large B-cell lymphomas

79/116 (68%)

TP53 (24.1%, 28/116)

MYD88 (15.5%, 18/116)

TNFAIP3 (10.3%, 12/116)

B2M, EZH2, TNFRSF14 (9.5% each, 11/116 each)

CREBBP, SOCS1 (8.6% each, 10/116 each)

NOTCH2 (6.0%, 7/116)

NFKBIE (5.2%, 6/116)

NOTCH1 (4.3%, 5/116)

ATM, BRAF, XPO1 (3.4% each, 4/116 each)

MAP2K1, STAT3 (2.6% each, 3/116 each)

EGR2, GNA13 (1.7% each, 2/116 each)

CD79B, CIITA, CXCR4, KLF2, POT1, SF3B1, STAT5B (0.9% each, 1/116 each)

Follicular lymphoma

27/43 (62.8%)

CREBBP (27.9%, 12/43)

EZH2 (20.9%, 9/43)

TNFRSF14 (18.6%, 8/43)

TP53 (16.3%, 7/43)

XPO1 (4.7%, 2/43)

ATM, B2M, CD79A, GNA13, NFKBIE, TNFAIP3 (2.3% each, 1/43 each)

Mantle cell lymphoma

11/28 (39.3%)

TP53 (17.9%, 5/28)

ATM (14.3%, 4/28)

BIRC3 (7.1%, 2/28)

NOTCH2, NFKBIE (3.6% each, 1/28 each)

CLL/SLL

37/60 (61.7%)

NOTCH1 (21.7%, 13/60)

TP53 (20%, 12/60)

BRAF (10%, 6/60)

SF3B1 (8.3%, 5/60)

ATM, NFKBIE (6.7% each, 4/60 each)

BIRC3 (5%, 3/60)

EGR2, MYD88 (3.3% each, 2/60 each)

BTK, MAP2K1, NOTCH2, POT1, RPS15, TET2, XPO1 (1.7% each, 1/60 each)

Marginal zone lymphoma

25/52 (48%)

TNFAIP3 (15.4%, 8/52)

NOTCH2 (11.5%, 6/52)

CREBBP, EZH2 (7.7% each, 4/52 each)

TP53 (5.8%, 3/52)

MYD88, NOTCH1, TET2, TRAF3 (3.8% each, 2/52 each)

B2M, BIRC3, MAP2K1, NFKBIE, STAT3, TNFRSF14 (1.9% each, 1/52 each)

Lymphoplasmacytic lymphoma

10/12 (83.3%)

MYD88 (83%, 10/12)

CXCR4 (33.3%, 4/12)

TP53 (8.3%, 1/12)

High grade B-cell lymphoma

9/14 (64.3%)

CREBBP (28.6%, 4/14)

TP53 (21.4%, 3/14)

KLF2, GNA13 (14.3% each, 2/14 each)

CD79A, TNFRSF14, BIRC3, EZH2, ID3 (7.1% each, 1/14 each)

Immunodeficiency associated lymphomas

5/10 (50%)

TP53 (40%, 4/10)

CREBBP, TNFAIP3, TNFRSF14 (20% each, 2/10 each)

NOTCH1, NOTCH2, TET2 (10% each, 1/10 each)

B-cell neoplasm, miscellaneous

5/6 (83%)

TP53, BRAF (33.3% each, 2/6 each)

MAP2K1, NOTCH1 (16.7% each, 1/6 each)

T-cell neoplasms

T-cell neoplasms

18/40 (45%)

TP53 (15%, 6/40)

TET2, STAT3 (10% each, 4/40 each)

JAK3, RHOA (5% each, 2/40 each)

SOCS1, NOTCH1, NOTCH2, EGR2, STAT5B, POT1 (2.5% each, 1/40 each)

Other

Lymphoma, NOS

9/30 (30%)

EZH2 (13.3%, 4/30)

B2M, NOTCH1, TNFRSF14 (6.7% each, 2/30 each)

BRAF, MYD88, SOCS1, TET2, TP53 (3.3% each, 1/30 each)

Atypical lymphoproliferation

3/39 (7.7%)

B2M, TET2, TNFAIP3, TP53 (2.6% each, 1/39 each)

No disease

 

3/61 (4.9%)

SF3B1 (5%, 3/61)

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