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Background  Chronic Lymphocytic Leukemia (CLL) is a lymphoproliferative disease characterized by multiple recurring clonal cytogenetic anomalies and is the most common leukemia in adults. Chromosomal abnormalities associated with CLL include trisomy 12 and  IGH;BCL3  rearrangement [t(14;19)(q32;q13)] that juxtaposes a proto-oncogenic gene  BCL3  and an immunoglobulin heavy chain, a translocation that may be associated with shorter survival. In addition to the  IGH;BCL3  rearrangement, other translocations involving 14q32 locus are involved in various lymphoproliferative pathologies pointing toward the significance of  IGH  locus in oncogenic progression. Significantly, in the majority of B-cell neoplasms that carry an  IGH;BCL3  rearrangement, it is a sole translocation involving an  IGH  locus.    Case Presentation  We report a patient who, in addition to trisomy 12, carried a rare double-hit translocation characterized by the  IGH;BCL3  translocation and an additional clonal  IGH;BCL2  translocation involving  IGH  and another proto-oncogene  BCL2 , t(14;18)(q32;q21), commonly found in follicular lymphoma. Further single nucleotide polymorphism (SNP) array-based analysis detected a duplication of the 58.8 kb region at 19q13.32 adjacent to the  BCL3  translocation junction on chromosome 19q13. Interestingly, the duplicated region contained  ERCC2  gene, which encodes a DNA excision repair protein involved in the cancer-prone syndrome, xeroderma pigmentosum.    Conclusions  Taken together our findings indicate the existence of double-translocation driven oncogenic events involving both  IGH  loci and proto-oncogenes  BCL2  and  BCL3 . Importantly, the  IGH;BCL3  translocation was characterized by the duplication of the genomic region adjacent to  BCL3 , containing a major DNA repair factor,  ERCC2 .    Electronic supplementary material  The online version of this article (doi:10.1186/s13039-015-0203-y) contains supplementary material, which is available to authorized users.

Rare double-hit with two translocations involving IGH both, with BCL2 and BCL3, in a monoclonal B-cell lymphoma/leukemia