2026-06-14T03:51:18Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/109612024-11-29T16:11:15Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597

00925njm 22002777a 4500 dc Sánchez, Ricardo author Ribera, Jordi author Morgades, Mireia author Ayala, Rosa author Onecha, Esther author Ruiz-Heredia, Yanira author Juárez-Rufián, Alexandra author de Nicolás, Rodrigo author Sanchez-Pina, Jose author Vives, Susana author Zamora, Lurdes author Mercadal, Santiago author Coll, Rosa author Cervera, Marta author García, Olga author Ribera, Josep-Maria author Martinez-Lopez, Joaquin author 2020 BCR-ABL1-like B-cell precursor acute lymphoblastic leukemia (BCP-ALL) remains poorly characterized in adults. We sought to establish the frequency and outcome of adolescent and adult BCR-ABL1-like ALL using a novel RNA-Seq signature in a series of patients with BCP-ALL. To this end, we developed and tested an RNA-Seq custom panel of 42 genes related to a BCR-ABL1-like signature in a cohort of 100 patients with BCP-ALL and treated with risk-adapted ALL trials. Mutations related to BCR-ABL1-like ALL were studied in a panel of 33 genes by next-generation sequencing (NGS). Also, CRLF2 overexpression and IKZF1/CDKN2A/B deletions were analyzed. Twenty out of 79 patients (12-84 years) were classified as BCR-ABL1-like (25%) based on heatmap clustering, with significant overexpression of ENAM, IGJ, and CRLF2 (P ≤ 0.001). The BCR-ABL1-like subgroup accounted for 29% of 15-60-year-old patients, with the following molecular characteristics: CRLF2 overexpression (75% of cases), IKZF1 deletions (64%), CDKN2A/B deletions (57%), and JAK2 mutations (57%). Among patients with postinduction negative minimal residual disease, those with the BCR-ABL1-like ALL signature had a higher rate of relapse and lower complete response duration than non-BCR-ABL1-like patients (P = 0.007). Thus, we have identified a new molecular signature of BCR-ABL1-like ALL that correlates with adverse prognosis in adult patients with ALL. Blood Cancer J. 2020;10(4):43. 10.1038/s41408-020-0308-3 2044-5385 Blood cancer journal 32332702 http://hdl.handle.net/20.500.12105/10961 MINIMAL RESIDUAL DISEASE HIGH-RISK B-ALL CLASSIFICATION IKZF1 KINASE A novel targeted RNA-Seq panel identifies a subset of adult patients with acute lymphoblastic leukemia with BCR-ABL1-like characteristics.