2026-05-21T23:07:00Zhttps://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
Repisalud author 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 funder CRIS contra el Cáncer 2020-09-03T12:22:32Z 2020-09-03T12:22:32Z 2020 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 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. eng 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. journal article 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 URL https://repisalud.isciii.es/bitstreams/55d05a2a-b286-4605-ae4e-8d09704a5d7d/download File MD5 5e90057ee64bf4303db6334a66fe3444 1328180 application/pdf AnoveltargetedRNA-Seqpanel_2020.pdf URL https://repisalud.isciii.es/bitstreams/9f90b4a1-8732-49d7-a187-8eb662d730ec/download File MD5 b275ddf9eeb10abf21bdf428535c9a0c 233713 application/pdf AnoveltargetedRNA-Seqpanel_MOESM1_ESM.pdf URL https://repisalud.isciii.es/bitstreams/7f6eeb1c-0b99-455a-881c-70e0104070e4/download File MD5 d7a97d7cdf116fece732185a625f9bb7 19444 application/vnd.openxmlformats-officedocument.spreadsheetml.sheet AnoveltargetedRNA-Seqpanel_MOESM2_ESM.xlsx URL https://repisalud.isciii.es/bitstreams/96f6d8fe-3c24-48d2-be3d-c4221a9e980b/download File MD5 d7a97d7cdf116fece732185a625f9bb7 19444 application/vnd.openxmlformats-officedocument.spreadsheetml.sheet AnoveltargetedRNA-Seqpanel_MOESM2_ESM.xlsx URL https://repisalud.isciii.es/bitstreams/cc9b55e8-1776-4b1f-b83c-368d088e6ded/download File MD5 a078f3d6f03b157ddeb4fc8193b49293 577043 application/vnd.openxmlformats-officedocument.presentationml.presentation AnoveltargetedRNA-Seqpanel_MOESM3_ESM.pptx URL https://repisalud.isciii.es/bitstreams/91fed48d-5e9c-442c-9eec-98b8c981f354/download File MD5 94729a17c489f58488eefea1f3aec6e4 47111 text/plain AnoveltargetedRNA-Seqpanel_2020.pdf.txt URL https://repisalud.isciii.es/bitstreams/a77f5eb7-3779-4a0c-a324-486377765329/download File MD5 2e2648aafe267091a5130a6ad6c9bb01 12215 text/plain AnoveltargetedRNA-Seqpanel_MOESM1_ESM.pdf.txt URL https://repisalud.isciii.es/bitstreams/95300d48-1d89-4d4b-b53b-acc02a604e87/download File MD5 ca970cea665e122ac19a6ee94fe95566 46 text/plain AnoveltargetedRNA-Seqpanel_MOESM3_ESM.pptx.txt URL https://repisalud.isciii.es/bitstreams/2aff39d6-7579-4932-9ce8-318535761c82/download File MD5 19bff7ff649df86a76fbf7b5a8fd2ae9 2738 text/plain AnoveltargetedRNA-Seqpanel_MOESM2_ESM.xlsx.txt