Mutational and Cytogenetic Analyses
Roos-Weil D, Nguyen-Khac F, Chevret S et al.
Key Points:
- Investigators performed multicenter retrospective study to better understand genetic basis and prognosis of trisomy 12 patients
- Primary and secondary endpoints: time to first treatment (TFT), response to therapy, time to next treatment (TNT) and overall survival (OS)
- Tri12 was sole abnormality in 114/170 (67%) patients
- Among 117 stage A patients: 64 (57%) needed treatment, median TFT: 45 months (range, 1-170)
- Only TP53 mutation retain prognostic significance for TFT
- Among 75 stage B-C patients: 62 needed treatment,
- Only prognostic variable associated with poor response to therapy was presence of NOTCH1 mutation
- Factors associated with worst OS in tri12 population: Binet stage (A vs. B-C), splenomegaly, lymphocytosis, LDH, B2M, percentage of INP and IGHV unmutated status.
Implications:
- Most frequent molecular abnormalities observed in tri12 cohort were TP53 (8%) and NOTCH1 (17%) mutations
- TP53 mutations associated with shorter time to first treatment
- NOTCH1 mutations associated with poor response to therapy.
View the original abstract on the ASH website.
