XL IGH BA

Break Apart Probe

Order Number
D-5107-100-OG
Package Size
100 µl
Labels
  
Chromosome
14

Description

XL IGH BA

The XL IGH BA probe is designed as a break apart probe. Its orange labeled part partly covers the constant region of the IGH locus at 14q32 and extends proximally. The green labeled probe hybridizes to the variable distal region of the IGH locus.

Clinical Details

Chromosomal translocations affecting the IGH locus at 14q32.3 are recurrent in many types of lymphomas and plasma cell neoplasms. The consequence of these rearrangements is the dysregulation of genes juxtaposed to transcriptional enhancers in the IGH locus. The Burkitt lymphoma is a rare but fast growing type of NHL. The translocation between the MYC gene locus at 8q24 and the immunoglobulin genes (IG) for the kappa light chain at 2p12 (IGK), for the heavy chain at 14q32 (IGH) or for the lambda light chain at 22q11 (IGL) juxtapose the MYC gene to an IG enhancer. About 80% of Burkitt lymphoma patients have the MYC rearrangement t(8;14) while approximately 10% show a translocation between the MYC gene region and IGK or IGL. The Follicular lymphoma (FL) is the most common indolent form of the Non-Hodgkin lymphomas (NHL). The reciprocal translocation t(14;18) is observed in about 85% of patients with FL and results in overexpression of the BCL-2 protein which is involved in the regulation of apoptosis. Around 1% of all cancers and 10% of hematologic malignancies are caused by Multiple Myelomas (MM). Translocations affecting the IGH locus are observed in about 40% of MM cases.
Due to the telomeric position of the IgH locus, 14q32.3 translocations may be easily missed by conventional cytogenetics. FISH diagnostic is therefore a valuable tool in the diagnostic of translocations affecting the IGH locus.

Clinical Applications

  • Multiple Myeloma and Plasma Cell Neoplasms (MM)
  • Non-Hodgkin Lymphomas (NHL)
  • Acute Lymphoblastic Leukemia (ALL)

Images

XL IGH BA

XL IGH BA hybridized to lymphocytes. Two normal interphases are shown.

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 relevant locus.

Literature

  • Freedman (2014) Am J Hematol 89: 429-436
  • Rajan and Rajkumar (2015) Blood Canc J 5:1-7
  • Nguyen et al (2017) Genes 8:1-23

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