Page 19 - DIAGEN-EN

primeFISH Products Hematology

HEMATOLOGY
PANEL

17-069 IGH-FGFR3 t(4;14)

The FGFR3 (fibroblast growth factor receptor 3) gene is are observed in approximately 15-20% of MM patients.
located in the 4p16.3 region, and the IGH Breakpoints for the 4p16.3 locus are located
(immunoglobulin heavy locus) is located in the between the FGFR3 gene and the 5’ end of the NSD2
14q32.33 region. FGFR3 encodes a receptor tyrosine gene. The t(4;14)(p16.3;q32.3) translocation is
kinase that regulates the downstream signaling chain associated with up-regulation of FGFR3 and myeloma
after ligand binding. Fusion of several part ner genes NSD2 (also known as MMSET) portion protein.
(including the IGH locus), often found in multiple Patients with the FGFR3/IGH translocation show an
myeloma (MM), can lead to ligand-in dependent overall poor prognosis, which is only partially
activation of the tyrosine kinase of the re-sulting alleviated by the use of the newer agents bortezomib
FGFR3 fusion protein. FGFR3/IGH trans locations and lenalidomide.

TRANSLOCATION

4p16.3
SHGC-68972 RH91968
5' 3'
Tel Cent
FGFR3
726 kb

RH65489 SHGC-144461 NORMAL
3' 5'
Cent Tel
IGH
1.5 mb

TRANSLOCATION

14q32.33

(Not to scale)

References
Kalff A & Spencer A (2012) Blood Cancer J. 7: e89.
Walker BA, et al. (2013) Blood 121: 3413-19 www.diagen.com.tr
Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New
Jersey: John Wiley & Sons Inc.

PRODUCT CATALOGUE 19