CLL Trageted Probe by Genoptix – pro
The clinical course of chronic lymphocytic leukemia (CLL) is heterogeneous, and it ranges from very indolent with a nearly normal life expectancy to rapidly progressive leading to early death. Genomic alterations in the TP53, BIRC3, NOTCH1, and SFB31 genes are associated with adverse outcomes, and their presence or absence can improve risk stratification and treatment selection beyond clinical staging and other prognostic biomarkers [1-10].
In a study by Rossi, et al; integrated mutational and cytogenetic analysis was able to divide CLL into 4 prognostic subgroups:
(1) high-risk, harboring TP53 and/or BIRC3 abnormalities (10-year survival: 29%);
(2) intermediate-risk, harboring NOTCH1 and/or SF3B1 mutations and/or del11q22-q23 (10-year survival: 37%);
(3) low-risk, harboring trisomy 12 or a normal genetics (10-year survival: 57%); and
(4) very low-risk, harboring del13q14 only, whose 10-year survival (69.3%) did not significantly differ from a matched general population.
This test is claimed to independently to have predicted survival and improved CLL prognostication accuracy compared with cytogenetics. This claim and how i and if it affects treatment strategies needs to be independently corroborated.
Alhourani E, Rincic M, Othman MA, et al. Comprehensive chronic lymphocytic leukemia diagnostics by combined multiplex ligation dependent probe amplification (MLPA) and interphase fluorescence in situ hybridization (iFISH). Mol Cytogenet. 2014;7(1):79.
Rossi, D, et al. Disruption of BIRC3 associates with fludarabine chemorefractoriness in TP53 wild-type chronic lymphocytic leukemia. Blood 2012; 119:2854-2862.