IGH, 14q32.33, Green
MYC, 8q24.21, Red
The IGH/MYC product consists of probes, labelled in green, covering the Constant, J, D and Variable segments of the IGH gene, and MYC probes, labelled in red. The MYC probe mix contains four probes, two 197kb, 277kb probes positioned centromeric to the MYC gene and two 186kb, 297kb probes positioned telomeric to the MYC gene, including the D8S1644 marker.
The cMYC/IGH translocation, t(8;14)(q24;q32), and the variant forms t(2;8)(p13;q24) and t(8;22)(q24;q11) are found in Burkitt's lymphoma and mature B-cell or Burkitt's type Acute Lymphoblastic Leukaemia (ALL)1.
The t(8;14) is the most common and is found in approximately 85% of patients with Burkitt's lymphoma2. While translocation breakpoints on chromosome 14 are clustered to a narrow region 5' to the intron enhancer of the immunoglobulin heavy chain, the breakpoints on chromosome 8 can occur more than 340kb upstream of MYC, with no preferential site3. The translocation brings MYC into close proximity to the IgH enhancer and results in the up-regulation of MYC4. Over expression of the transcription factor stimulates gene amplification resulting in uncontrolled cell proliferation, which usually occurs in the late event of tumour progression5.
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