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primeFISH Products Hermatology
HEMATOLOGY

PANEL

17-003 TP53 (17p13)

The TP53 gene is located in the 17p13.1 band region and relapse. In acute myeloid leukemia (AML), TP53 alter-
encodes a transcription factor. The encoded transcription ations are observed in 13% of patients, with 5% having
factor protein functions as a tumor suppressor by activating mutations and deletions, and 1% having deletions only.
the expression of genes that regulate cell proliferation In myelodysplastic syndrome (MDS), TP53 alterations are
and apoptosis, and inhibit cell growth. Deletion of the found in 7% of cases, including 1% with mutations and
TP53 gene results in the loss of its tumor-suppressing deletions, and 1% with deletions only. In AML and MDS,
activity. The presence of both mutation and deletion in TP53 alterations and 17p deletion are associated with
TP53 has a significant negative impact on overall survival complex karyotype, poor response to treatment, and
in hematological malignancies. In multiple myeloma, TP53 decreased survival. In MDS, even TP53 deletion without
deletion is found in 33.8% of newly diagnosed patients, mutation in the second allele has a significant negative
and even higher frequencies (54.5%) are observed during impact on overall survival.

DELETION

17p13.1

D17Z1 NORMAL
(17p.11.1-q11.1)

D17S1783 RH67972
3' 5'
Tel Gen
TP53 DELETION
409 kb

(Not to scale)

References

Drach et al (1998) Blood 92:802-809
Soenen et al (1998) Blood 91:1008-1015
Stengel et al (2017) Leukemia 31:705–711 www.diagen.com.tr
Tavor S, et al. (2011) Leuk Lymphoma 52: 642-7.
Lozanski G, et al. (2004) Blood 103: 3278-81.
Herrera JC, et al. (2010) Biomedica 30: 390-400.

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