Serial cytogenetic alterations resulting in transformation of a low-grade follicular lymphoma to Burkitt lymphoma

MYC expression and translocation analyses in low‐grade and transformed follicular lymphoma

“…An interesting observation in our series is the frequent involvement of non‐IGH partners and, in the case of an IG– MYC break, the frequent involvement of a light chain locus. Although the small number of cases precludes any statistical analysis, our findings are in line with observations in other BCL2 +/ MYC + double‐hit lymphomas, whereby non‐IG locus involvement was found in ≈15–40% of cases, and light chain instead of heavy chain involvement was detected in 40–100% of cases . This is in contrast to Burkitt lymphoma, which, by definition, has an IG– MYC single‐hit configuration, and which shows variant IG light chain involvement in only 10–20% of cases .…”

“…Although the small number of cases precludes any statistical analysis, our findings are in line with observations in other BCL2+/MYC+ double-hit lymphomas, whereby non-IG locus involvement was found in %15-40% of cases, and light chain instead of heavy chain involvement was detected in 40-100% of cases. [31][32][33][34][35] This is in contrast to Burkitt lymphoma, which, by definition, has an IG-MYC single-hit configuration, and which shows variant IG light chain involvement in only 10-20% of cases. 36 One explanation may be that, in contrast to the translocation in Burkitt lymphoma and singlehit MYC-R+ cases of DLBCL, one IGH allele is already affected by t(14;18)(q32;21); in consequence, involvement of the other allele by another translocation may be deleterious for cases in which proper Bcell receptor signalling is necessary for tumour cell survival.…”

BCL2 mutations are associated with increased risk of transformation and shortened survival in follicular lymphoma

“…[1][2][3] Although some patients do well for decades, often with limited therapy, at some point 30% to 50% of patients experience histologic transformation to a more aggressive lymphoma, usually diffuse large B-cell lymphoma (DLBCL). [4][5][6][7][8][9][10][11] This transformation, which is thought to reflect the acquisition of new genetic abnormalities leading to further genomic instability, [12][13][14][15][16] has generally been associated with a poor clinical outcome. 17 Retrospective analyses from the prerituximab era have reported a median survival of only 1 to 2 years after transformation, 18,19 although a recent prospective observational study suggests somewhat better survival after transformation in the rituximab era.…”

Splenic marginal zone lymphoma with t(8;14)(q24.1;q32)/MYC rearrangement

“…Recent reports demonstrated the presence of MYC gene rearrangement in 20%-40% of cases of plasmablastic lymphoma [16]. Other previous reports have noted the presence of MYC gene translocation in follicular lymphoma [17] and mantle cell lymphoma [18]. This finding has been associated with tumor progression to high-grade morphology with an aggressive clinical course.…”