Page 7 - DIAGEN-EN

primeFISH Products Hematology

HEMATOLOGY
PANEL

17-068 EGR1 del(5q31.2)

Deletions covering the 5q31.2 region are one of the A 5q deletion are treated with the FDA-approved
most common karyotypic abnormalities in lenalid-omide, a thalidomide analogue. Dicentric
myelodysplastic syndrome (MDS) and acute myeloid chromosomes, including chromosome 5, have often
leukemia (AML) with changes due to myelodysplasia in been observed in patients with de nova or therapy-
therapy-associated MDS or AML, 40% of patients show a associated MDS and AML. These patients often show a
5q deletion. The fact that EGRl deletion is associated complex karyotype. In such conditions,
with higher tumor grade in estrogen receptor negative characterization of rearrangement by conventional
(ER-negative) breast carcino-mas suggests that loss of cytogenetics is hardly feasible. Therefore, FISH can be
the EGRl gene may contribute to the pathogenesis of a useful tool for diagnosis and treatment decisions.
ER-negative breast carcinomas. Transfusion-
independent, lower-risk MDS patients with

DELETION

5p15.31

SHGC-149507 RH13582
3' 5'
Tel Cent
SEMA5A
NORMAL
572 kb

RH65951 RH69126
5' 3'
Cent Tel
EGR1 DELETION
529 kb
5q31.2

(Not to scale)

References
Boultwood et al (2010) Blood 16:5803-5811
Wei et al (2009) Proc Natl Acad Sci USA 106:12974-12979 www.diagen.com.tr
Arsham, MS., Barch, MJ. and Lawce HJ. (eds.) (2017) The AGT Cytogenetics Laboratory Manual. New
Jersey: John Wiley & Sons Inc.
Tian J, et al. (2016) Intractable Rare Dis Res 5: 76-82.

PRODUCT CATALOGUE 7