TEST NAME
– P53 Mutation
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ
ABOUT TEST
– Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. Though
modern treatments are highly effective in most CLL, a challenging subgroup of patients
shows poor response to standard regimens and a survival of less than two years.
The tumor suppressor gene TP53 codes for a central regulator of DNA-damage-response
pathway, and its activation leads to cell-cycle arrest and DNA repair, apoptosis or
senescence through both transcription-dependant and transcriptional-independant
activities.
The deletion of 17p13 always contains the TP53 locus and is found in 3-8% of CLL at
diagnosis and in 8-12% CLL at the time of first-line treatment. Specific subgroups of
patients affected by fludarabine-refractory CLL or Richter syndrome show a higher
incidence of 17p13 deletion that may be detected in up to 30-40% of cases.
The clinical importance of TP53 abnormalities in CLL is tightly linked to the poor prognosis
marked by this genetic lesion and its close association with poor outcome and
refractoriness.
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ
GENES TESTED
–
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ
SAMPLE REQUIREMENTS
– Green and EDTA
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ
TAT
– 14
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ
Related Tests
–
ــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــــ