XL 22q11 IGL BA

Break Apart Probe

Order Number
D-5117-100-OG
Package Size
100 µl
Labels
  
Chromosome
22

Description

XL 22q11 IGL BA

XL 22q11 IGL BA is designed as a break apart probe. The orange labeled probe hybridizes proximal to the breakpoint in the IGLV gene region at 22q11, the green labeled probe hybridizes distal to the breakpoint.

Clinical Details

The immunoglobulin (IG) genes for the kappa light chain at 2p12 (IGK), the lambda light chain at 22q11 (IGL) and the heavy chain at 14q32 (IGH) are recurrently involved in the development of Non-Hodgkin lymphomas. By far most frequently involved is IGH with more than 30 partner genes, less frequently IGK and IGL. IG-translocations are leading to juxtaposition of proto-oncogenes with IG enhancer sequences resulting in overexpression of the respective oncogene. Chromosomal translocations involving c-MYC at 8q24 and IG genes frequently occur in Burkitt lymphoma. The Burkitt lymphoma is a rare but fast growing type of Non-Hodgkin lymphoma which is rapidly fatal if left untreated. About 75% of Burkitt lymphoma patients are carrying the MYC rearrangement t(8;14) while the remainder show a translocation between MYC and IGK or IGL. MYC-IG rearrangements are also involved in other B-cell malignancies as atypical Burkitt/Burkitt-like lymphoma, diffuse large B-cell lymphoma, follicular lymphoma, mantle cell lymphoma and multiple myeloma. Besides 8q24 (MYC), other translocation partners for IGL, as chromosomal regions 2p13-14, 3q27 (BCL6), 4q13, 6p25, 16p12, 17p11.2 and 17q21, are known.

FISH break-apart assays are valuable tools for the detection of IG light chains rearrangements independent of the translocation partner. Furthermore, double translocations have been described which are difficult to detect by PCR-based methods.

Clinical Applications

  • Non-Hodgkin Lymphomas (NHL)

Images

XL 22q11 IGL BA

XL 22q11 IGL BA hybridized to normal lymphocytes. Two normal overlapping interphases are shown. The green and orange probes are flanking the IGVL gene region which is relatively large in size. Thus, the distance between the differently labeled signals in normal cells might appear greater than observed with probes flanking smaller genes.

Expected Patterns

Expected Pattern 1

Normal Cell:
Two green-orange colocalization/fusion signals (2GO).

Expected Pattern 2

Aberrant Cell (typical results):
One green-orange colocalization/fusion signal (1GO), one separate green (1G) and orange (1O) signal each resulting from a chromosome break in the respective locus.

Literature

  • Martin-Subero et al (2002) Int J Cancer 98:470-474
  • Einerson et al (2006) Leukemia 10:1790-1799
  • Fujimoto et al (2008) Eur J Haematol 80:143-150

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