Mantle cell lymphoma t(11;14)
46,XY,t(11;14)(q13;q32)
Also known as: CCND1-IGH, cyclin D1, t(11;14)
46,XY,t(11;14)(q13;q32) defines mantle cell lymphoma. It brings CCND1 (cyclin D1) next to the immunoglobulin heavy-chain locus IGH, driving cyclin D1 overexpression and cell-cycle progression.
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What the notation means
The shape of this abnormality
- (11;14)
- the two chromosomes, the sex chromosome or the lower number first.
- (q13;q32)
- one breakpoint on each chromosome, in the same order; each keeps its own centromere and takes the other's piece beyond the break.
- count ยท sex chromosomes
- a normal count and the usual male sex chromosomes
- abnormality
- a reciprocal TRANSLOCATION: chromosomes 11 and 14 break (at 11q13 and 14q32) and swap the pieces beyond those breaks, giving two derivative chromosomes der(11) and der(14). The pieces that move are the tips, which carry no centromere; each derivative keeps the centromere it started with, and that is the chromosome it is named for
Clinical notes
t(11;14), mantle cell lymphoma
IGH::CCND1, a juxtaposition rather than a fusion protein. This translocation is effectively defining for mantle cell lymphoma, where cyclin D1 immunohistochemistry is the everyday surrogate; the same finding in a plasma cell context means a standard-risk myeloma instead, so the tissue decides the disease. The mechanism is cyclin D1 under the IGH enhancer, driving the cell cycle. In myeloma it also predicts response to venetoclax.