XL 2p11 IGK BA probe consists of an orange-labeled probe hybridizing to the ´IGKV distal´ region at 2p11.2, and a green-labeled probe hybridizing distal to the ´IGKV proximal´, IGKJ and IGKC region at 2p11.2.

Probe maps are created in accordance with the intended purpose of the product. Solid colored bars do not necessarily indicate that the probe fully covers the indicated genomic region. Therefore, caution is advised when interpreting results generated through off-label use. Probe map details based on UCSC Genome Browser GRCh37/hg19. Map components not to scale. Further information is available on request.

The immunoglobulin (IG) genes for the kappa light chain at 2p11 (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 (NHL). 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 MYC at 8q24 and IG genes frequently occur in Burkitt lymphoma (BL). BL is a rare but fast growing type of NHL which is rapidly fatal if left untreated. About 75% of BL 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 such 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 IGK, such as chromosomal regions 1p13, 3q27 (BCL6), 7q21, 16q24 and 18q21 (BCL2), are known.

FISH break apart assays are valuable tools for the detection of IG light chain 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)

XL 2p11 IGK BA hybridized to lymphocytes. Two normal interphases are shown. The orange signals might appear as paired dots in normal cells.

• 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

• Utility and performance of bacterial artificial chromosomes-on-beads assays in chromosome analysis of clinical prenatal samples, products of conception and blood samples.
• A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.
• Distinct roles of ATM and ATR in the regulation of ARP8 phosphorylation to prevent chromosome translocations.
• Heterogeneous MYCN amplification in neuroblastoma: a SIOP Europe Neuroblastoma Study.
• Immense random colocalization, revealed by automated high content image cytometry, seriously questions FISH as gold standard for detecting EML4-ALK fusion.
• Fluorescence in situ hybridisation assays designed for del(7q) detection uncover more complex rearrangements in myeloid leukaemia cell lines
• Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation.
• A rare case of t(11;22) in a mantle cell lymphoma like B-cell neoplasiaresulting in a fusion of IGL and CCND1: case report.
• Genomic DNA-chip hybridization in t(11;14)-positive mantle cell lymphomas shows a high frequency of aberrations and allows a refined characterization of consensus regions.