Article
PLCG2 exon-skipped variants: insights into their potential role in chronic lymphocytic leukemia.
Blood advances - 11 Aug 2026
Qi Jialei, Li Wen, Dheenadayalan Rashmi Priyadharshini, Yosifov Deyan Yordanov, Drewes Cosima, Wist Martin, Wieczorek Marcel, Schmid Vera, Hobeika Elias, Gao Xiang, Endres Sascha, Schneider Christof, Riecke Armin, Barth Holger, Gierschik Peter, Siebert Reiner, Tausch Eugen, Stilgenbauer Stephan, Jebaraj Billy Michael Chelliah
Abstract excerpt
ABSTRACT: Bruton tyrosine kinase inhibitors (BTKi) are successful in the treatment of chronic lymphocytic leukemia (CLL), yet acquired resistance remains a challenge. In our study, REC-1 cells that acquired resistance to the BTKi tirabrutinib by long-term treatment gained a splice site mutation (SSM) c.2236-1G>T in phospholipase C gamma 2 (PLCG2). Notably, a deletion spanning c.2236-23_2238 at the same splice...
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