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A swap of DNA that puts the survival gene BCL2 next to an antibody gene, so the cell makes far too much of a protein that stops it dying. It is the founding event of most follicular lymphomas and it happens in the bone marrow, often years before anything is wrong.
The t(14;18)(q32;q21) translocation joins BCL2 on chromosome 18 to the immunoglobulin heavy-chain locus on chromosome 14, so the anti-apoptotic protein is driven by the enhancer that should be driving antibody production. Sequencing the junctions showed that the breakpoints sit close to the 5' end of the JH segment, carry extraneous N-region nucleotides and lie beside signal-like sequences on chromosome 18, which identifies the translocation as a mistake by the VDJ recombinase at the pre-B-cell stage rather than a late event in a lymphoma (Tsujimoto 1985).
It is present in the large majority of follicular lymphomas and in 13.5% of 442 unselected diffuse large B-cell lymphomas in the RICOVER cohort, where BCL2 protein was expressed in 79.6% of tumours, far more often than the gene was rearranged (Horn 2013). A cell carrying the translocation can be found in the blood of healthy people, so the result on its own is not a diagnosis.
In plain words · A protein that stops cells from self-destructing. Venetoclax removes that protection and has transformed leukaemia treatment.
On its own this result helps name the lymphoma rather than choose the treatment. It becomes important when it appears together with a MYC rearrangement, which is a different and more aggressive diagnosis and usually means a stronger regimen.
Written only from the label or guideline text cited on this page. Not medical advice; your own report and the reading your team gives it come first.
A break at the BCL2 locus on interphase fluorescence in situ hybridisation, reported as rearranged or not rearranged, usually with a break-apart probe; a dual-fusion probe additionally confirms the immunoglobulin partner. The result is read alongside MYC and BCL6, because the combination rather than BCL2 alone defines the high-grade entity.
“Rearrangements of MYC, BCL2, and BCL6 were detected in 8.8%, 13.5%, and 28.7%, respectively.”
Horn et al., Blood 2013No approval uses this readout as a threshold. It is defined by Alaggio et al., Leukemia 2022: the fifth edition of the WHO classification of haematolymphoid tumours, lymphoid neoplasms.
Shares The germinal centre: why lymphoma starts where antibodies are made, Follicular lymphoma, Non-Hodgkin lymphoma (all types), Diffuse large B-cell lymphoma and the tags biomarker, lymphoma.
Shares Cytogenetics and FISH, FISH / ISH (in situ hybridisation), Non-Hodgkin lymphoma (all types) and the tags biomarker, lymphoma.
Shares Non-Hodgkin lymphoma (all types), Diffuse large B-cell lymphoma and the tags biomarker, lymphoma.
Shares Non-Hodgkin lymphoma (all types) and the tags biomarker, lymphoma.
Shares BCL2 G101V and the other venetoclax binding-site mutations, Venetoclax, Non-Hodgkin lymphoma (all types) and the tags biomarker, lymphoma.
Shares The germinal centre: why lymphoma starts where antibodies are made, Histopathology & immunohistochemistry, Follicular lymphoma, Non-Hodgkin lymphoma (all types) and the tag lymphoma.
Shares Non-Hodgkin lymphoma (all types) and the tag biomarker.
Shares FISH / ISH (in situ hybridisation), Venetoclax, Non-Hodgkin lymphoma (all types), Diffuse large B-cell lymphoma and the tag biomarker.