0000000000530959
AUTHOR
T. Chiara
Secondary resistance to the PI3K inhibitor copanlisib in marginal zone lymphoma
PI3K kinase has a prominent role in the B-cell receptor signaling. Copanlisib, a pan-PI3K inhibitor with predominant selectivity to PI3Kα and PI3Kδ, is Food and Drug Administration (FDA) approved for the treatment of patients with relapsed or refractory follicular lymphoma, and it is currently under clinical development in other indolent lymphomas including marginal zone lymphoma (MZL). However some patients might eventually relapse because of acquired resistance and so a better understanding of resistance mechanisms is needed. Thus we generated MZL cell lines resistant to copanlisib which could help to design improved therapies
Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations
: Background A significant proportion of individuals clinically diagnosed with familial hypercholesterolemia (FH), but without any disease-causing mutation, are likely to have polygenic hypercholesterolemia. We evaluated the distribution of a polygenic risk score, consisting of 12 low-density lipoprotein cholesterol (LDL-C)-raising variants (polygenic LDL-C risk score), in subjects with a clinical diagnosis of FH. Methods and Results Within the Lipid Transport Disorders Italian Genetic Network (LIPIGEN) study, 875 patients who were FH-mutation positive (women, 54.75%; mean age, 42.47±15.00 years) and 644 patients who were FH-mutation negative (women, 54.21%; mean age, 49.73±13.54 years) wer…