IGHC, 14q32.33, Red
IGHV, 14q32.33, Green
The IGH probe mix consists of a 393kb probe, labelled in red, centromeric to the Constant region of the gene and two green probes (324kb and 289kb), within the Variable segment of the gene.
Recurrent rearrangements involving the IGH (immunoglobulin heavy locus) gene at 14q32.33 with a wide range of partner genes are seen in lymphomas and haematological malignancies1.
A t(8;14)(q24;q32) translocation, involving IGH and the MYC gene at 8q24, is frequently seen in Burkitt lymphoma2 and diffuse large B-cell lymphoma (DLBCL)3. Other rearrangements frequently reported in B-cell lymphoma include: the t(14;18)(q32;q21) translocation, involving IGH and the BCL2 gene, seen in both follicular lymphoma and DLBCL4; and the t(11;14)(q13;q32) involving IGH and the CCND1 gene, which is the hallmark of mantle cell lymphoma (MCL)5.
IGH rearrangements with a number of different gene partners are a frequent finding in patients with multiple myeloma, including: t(4;14)(p16;q32) translocations involving IGH with FGFR3 and NSD2; t(6;14)(p21;q32) translocations involving IGH and CCND3; t(11;14)(q13;q32) translocations involving IGH and CCND1; t(14;16)(q32;q23) translocations involving IGH and MAF, and t(14;20)(q32;q12) translocations involving IGH and MAFB6,7.
IGH rearrangements are also reported as recurrent abnormalities in patients with lymphoplasmacytic lymphoma (LPL), chronic lymphocytic leukaemia (CLL), extranodal marginal zone B-cell lymphoma of the mucosa-associated lymphoid tissue (MALT) type and acute lymphoblastic leukaemia (ALL)8.
The breakapart design for this probe set allows the detection of rearrangements of the IGH region, regardless of partner gene or chromosome involved.
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