Cytogenomic evaluation. (A) Representative interphase cell demonstrating 2 red signals (CCND1 probe, ∼378 kb) and 3 green signals (IGH probe, ∼1.6 Mb) using an IGH/CCND1 dual-color dual-fusion probe set. This signal pattern indicates a gain of 14q32 or an IGH rearrangement, without the presence of IGH/CCND1 fusion. The presence of an unbalanced or balanced t(11;14) would be indicated by 1 or 2 red/green (yellow) fusion signals, respectively. (B) Representative interphase cell demonstrating 2 intact yellow fusion signals (5′ CCND1 probe, ∼384 kb [green]; 3′ CCND1 probe, ∼256 kb [red]) using a CCND1 break-apart probe (BAP) set. The presence of a CCND1 rearrangement would be indicated by separated or single green (5′ CCND1 probe) and red (3′ CCND1 probe) signals. (C) Junction plot demonstrating the insertion of an intact CCND1 gene into the IGH locus. In addition, loss of a portion of distal IGH-J, IGH-D, and a portion of the proximal IGH-V region was detected (2N indicated by the dashed gray horizontal line below the IGH locus label). (D) A depiction of the cryptic CCND1 insertional event. Dashed horizontal red lines on the normal chromosome 11 indicate breaks encompassing the CCND1 gene and insertion into the IGH locus located on the der(14). The black dots on IGH locus indicate enhancer elements. The IGH segment between the horizontal dashed red lines on chromosome 14 was deleted. The IGH/CCND1 D-FISH and CCND1 BAP footprints are indicated by the solid green/red and striped green/red horizontal bars, respectively. Insertion of the CCND1 gene into the IGH locus is unappreciable by FISH because of the minimal size of the inserted CCND1 gene segment. The secondary 12p/der(14q) translocation (not shown) also accounts for the extra IGH signal observed by IGH/CCND1 D-FISH studies.