P53 Functional Assessment
Le Garff-Tavernier M, Veronese L, Nguyen-Khac L et al.
Key Points:
- 17p deletion results in loss of TP53 gene and leads to impairment of p53-associated pathway
- TP53 mutations (without 17p deletion) also appear to be associated with poor outcome
- Investigators aim to validate functional assay to detect 17p deletion and/or TP53 mutation on large prospective trial (ICLL001 – BOMP) phase II trial (NCT01612988)
- FISH and mutation data available for 55 patients and p53 functional assay available for 52 patients
- Sensitivity: 89.5% (66.9 –99.7%)
- Specificity: 87.9% (71.8 – 96.6%).
Implications:
- In vitro p53 functional analysis can predict with acceptable sensitivity presence of TP53 gene disruption and could be useful to identify pts with TP53 mutation without 17p deletion.
View the original abstract on the ASH website.
