Lymphoma FISH Probes

ALK rearrangements are recurrent in anaplastic large cell lymphoma (ALCL), found in up to 60% of CD30-positive cases. These translocations result in fusion genes that produce chimeric ALK proteins with constitutively activated kinase activity.

BCL2 rearrangements lead to unchecked production of the BCL2 protein, an apoptosis inhibitor. In lymphoma, BCL2 usually rearranges to IGH via t(14;18)(q32;q21.3), and less frequently to IGK and IGL.

BCL6 translocation is the most frequent cytogenetic abnormality in DLBCL, found in around 35% of patients. The gene can fuse with several different fusion partners in DLBCL, including both immunoglobulin (IGH, IGK, IGL) and non-IG genes.

The t(11;14)(q13;q32) translocation is a genetic hallmark of leukemic mantle cell lymphoma. The rearrangement fuses CCND1 to IGH, resulting in overexpression of the cyclin D1 protein by the IGH promoter.

The t(11;14)(q13;q32) translocation is a genetic hallmark of leukemic mantle cell lymphoma. The rearrangement fuses CCND1 to IGH, resulting in overexpression of the cyclin D1 protein by the IGH promoter.

DUSP22 rearrangements are found in 28-30% of both systemic and cutaneous ALK-negative ALCLs. These translocations result in downregulation of DUSP22, a tumor suppressor that inhibits T-cell receptor signaling and growth and promotes apoptosis.

Rearrangements that fuse the regulatory regions of IGH to various oncogenes are characteristic of several B-cell malignancies. IGH fusions result in abnormal expression of the IGH partner gene, and are generally considered disease drivers in their respective cancers.

The t(14;18)(q32;q21) translocation subjects BCL2 to the enhancer elements of IGH, leading to abnormal BCL2 expression. The fusion is considered a biomarker for follicular lymphoma (FL), where it's found in about 90% of patients, but also occurs in 20-30% of de novo DLBCL.

The t(14;18)(q32;q21) translocation subjects BCL2 to the enhancer elements of IGH, leading to abnormal BCL2 expression. The fusion is considered a biomarker for follicular lymphoma (FL), where it's found in about 90% of patients, but also occurs in 20-30% of de novo DLBCL.

MALT1 rearrangements characterize their own subtype of lymphoma, aptly named MALT lymphomas. In the majority of cases, rearrangements result in fusions with BIRC3 or, less often, IGH.

MALT1-BIRC3 fusions are found in about 10-20% of patients with extranodal low grade marginal zone B-cell lymphomas of MALT type (i.e., MALT lymphomas), which accounts for 5-10% of all non-Hodgkin lymphoma. MALT1-BIRC3 is especially common in cases of gastric (20-30%) and lung (50%) origin.

MYC rearrangements are oncogenic drivers in several aggressive B-cell lymphomas, including Burkitt lymphoma, DLBCL, and plasmablastic lymphoma, among other subtypes.

MYC translocations are characteristic of Burkitt Lymphoma (BL), and are also frequently found in other lymphoma subtypes. The most common MYC rearrangement is t(8;14) (q24.21;q32.3), which fuses MYC TO IGH; the abnormality is found in approximately 80% of BL patients.

MYC translocations are characteristic of Burkitt Lymphoma (BL), and are also frequently found in other lymphoma subtypes. The most common MYC rearrangement is t(8;14) (q24.21;q32.3), which fuses MYC TO IGH; the abnormality is found in approximately 80% of BL patients.

NFKB2 rearrangements are common across B-cell lymphomas. They typically result in production of a C-terminally truncated NFKB2 proteins that lack portions of the wildtype ankyrin-repeat domain and act as constitutive transactivators.

Expression of PD-L1, the programmed death receptor that protects cells from T-cell destruction, on the surface of neoplastic cells is an immune avoidance technique used in several lymphoid malignancies. Extra copies of the gene are frequently detected in lymphoma.