Page 7 - DIAGEN

primeFISH Products Hermatology
HEMATOLOGY

PANEL

17-068 EGR1 del(5q31.2)

Deletions covering the 5q3l.2 region are one of the most a 5q deletion are treated with the FDA-approved lenalid-
common karyotypic abnor malities in myelodysplastic omide, a thalidomide analogue. Dicentric chromosomes,
syndrome (MDS) and acute myeloid leukemia (AML) with including chromosome 5, have often been observed in
changes due to myelodysplasia. in therapy-associated MDS patients with de nova or thera py-associated MDS and
or AML, 40% of patients show a 5q deletion. The fact that AML. These patients often show a complex karyotype. in
EGRl deletion is associated with higher tumor grade in such conditions, characterization of rearrangement by
estrogen receptor negative (ER-negative) breast carcino- conventional cytogenetics is hardly feasible. Therefore,
mas suggests that loss of the EGRl gene may contribute FISH can be a useful tool far diagnosis and treatment
to the pathogenesis of ER-negative breast carcinomas. decisions.
Transfusion-independent, lower-risk MDS patients with

5p15.31
DELETION

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

RH65951 RH69126
5' 3'
Gen 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.

info@diagen.com.tr PRODUCT CATALOGUE 7