Table 1.
Summary of genetic alterations in B-cell lymphomas and their clinical utility
| B-cell Lymphoma | Genetic alterations | Clinical significance | Refs. | |
|---|---|---|---|---|
| Chronic lymphocytic leukemia (CLL) | IGVH SHM, Del(17p)/TP53, Del(11q), Del(13q), trisomy 12, NOTCH1, SF3B1, ATM, BIRC3, NFKBIE, EGR2, MYD88, XPO1, CHD2 | DIAGNOSTIC/PROGNOSTIC | [5, 15, 17, 19, 22] | |
| BTK, PLCG2, BCL2, TP53, CARD11 | PREDICTIVE | [26–28] | ||
| Lymphoplasmacytic lymphoma (LPL) | MYD88L265P#, CXCR4 | DIAGNOSTIC/PROGNOSTIC/PREDICTIVE | [29, 32, 33] | |
| Marginal zone lymphoma (MZL) | Spleenic MZL | KLF2, NOTCH2, TP53, NOTCH1, MLL2, ARID1A, SIN3A, TNFAIP3, MYD88, CARD11, trisomies 3, 18, Del(7q) | DIAGNOSTIC | [35, 37, 40] |
| Nodal MZL | KLF2, NOTCH2, KMT2D, PTPRP, trisomies 3, 18, 7, 12 | DIAGNOSTIC | [38, 41] | |
| Extranodal MZL | trisomies 3, 18, 12, T(11;18)#, T(1;14), T(3;14), T(14;18) (IGH::MALT1); TNFAIP3, CD79A, CD79B, CARD11, BIRC3, TRAF3, TNFRSF11A | DIAGNOSTIC/PROGNOSTIC (m7-FLIPI)/THERAPY | [42–45] | |
| Follicular lymphoma (FL) | FL | T(14;18); KMT2D, EZH2*#, CREBBP#, EP300#, MEF2B#, ARID1A#, FOXO1#, CARD11# | DIAGNOSIS/PROGNOSTIC#/THERAPY* | [54, 56] |
| NOTCH2, DTX1, UBE2A, HIST1H1E, MYC, TP53, CCND3, GNA13, S1PR2, P2RY8, POU2AF1, CDKN2A/B loss | PROGNOSTIC (HT) | [58–61] | ||
| Diffuse FL | TNFRSF14, STAT6, CREBBP, EZH2 | DIAGNOSTIC | [47] | |
| Pediatric TFL | TNFRSF14, MAP2K1 | DIAGNOSTIC | [50] | |
| Duodenal type FL | TNFRSF14, CREBBP, EZH2 | DIAGNOSTIC | [49] | |
| Mantle cell lymphoma (MCL) | T(11;14), CCND2 and CCND3 rearr | DIAGNOSTIC | [1, 2] | |
| IGVH SHM, Del(17p)/TP53, ATM, NOTCH1/2, KMT2D | PROGNOSTIC | [64] | ||
| Del(17p)/TP53, BIRC3, TRAF2, NSD2, CARD11 | PREDICTIVE | [66–68] | ||
| Diffuse large B-cell lymphoma, not otherwise specified (DLBCL-NOS) | NOTCH2, BCL10, TNFAIP3, UBE2A, CD70, CCND3, DTX1, BCL2, EZH2, CREBBP, TNFRSF14, KMT2D, IRF8, EP300, GNA13, MYD88, CD79B, PIM1, PIM2, PRDM1, BTG1, CD58, NOTCH1, SGK1, SOCS1, TET2, STAT3, TP53; MYC rear., BCL2 rearr., BCL6 rear | DIAGNOSTIC/PROGNOSTIC | [73–77] | |
| Large B-cell lymphoma with IRF4 rearrangement | IRF4 rear, IRF4, CARD11, MYD88, CD79B | DIAGNOSTIC | [69] | |
| Large B-cell lymphoma with 11q aberration | 11q aberration, GNA13 | DIAGNOSTIC | [83] | |
| High grade B-cell lymphoma (HGBCL) | HGBCL-DH-BCL2 | MYC rear., BCL2 rear., BCL2, KMT2D, CREBBP, TNFRS14, EZH2 | DIAGNOSTIC/PROGNOSTIC | [1, 2] |
| HGBCL-DH-BCL6 | MYC rear., BCL6 rear | DIAGNOSTIC | [1, 2] | |
| HGBCL-NOS | MYD88, CD79B, TBL1XR1, TP53, KMT2D | DIAGNOSTIC | [1, 2] | |
| Burkitt Lymphoma (BL) | EBV + | MYC rear., MYC aSHM, CDKN2A, DDX3X | DIAGNOSTIC | [100, 101] |
| TP53 | PROGNOSTIC | [102] | ||
| EBV - | MYC rear., TCF3, ID3, CDKN2A, DDX3X | DIAGNOSTIC | [100, 101] | |
| TP53 | PROGNOSTIC | [102] | ||
| Hodgkin Lymphoma (HL) | XPO1, EP300, CREBBP, TP53, B2M, NFKBIE, TNFAIP3, STAT3, STAT6, PTPN1, ITPKB, GNA13, ARID1A, KTM2D, IGLL5, CSFR2B, BTK | FUTURE | [108–110] | |
The most relevant alterations are indicated in bold
Del deletion; SHM somatic hypermutation; EBV Epstein–Barr virus; DH double hit; NOS not otherwise specified
HT: Histological transformation; rear.: rearrangement. Refs.: references. The most relevant alterations are indicated in bold