{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T15:11:30Z","timestamp":1790521890971,"version":"4.1.0"},"reference-count":50,"publisher":"MDPI AG","issue":"21","license":[{"start":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T00:00:00Z","timestamp":1761609600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cancers"],"abstract":"<jats:p>Background\/Objectives: Gene rearrangements involving oncogenes are major drivers in acute leukemia, influencing disease classification, prognosis, and therapeutic decision-making. Targeted RNA sequencing (RNA-Seq) panels capable of detecting intergenic and intragenic fusions across multiple genes are increasingly used in diagnostic settings. However, comparative evaluation with orthogonal technologies remains limited. Material and Methods: We compared the performance of a 108-gene anchored multiplex PCR (AMP)-based RNA-Seq panel with that of Optical Genome Mapping (OGM) in 467 acute leukemia cases. The cohort included 360 cases of acute myeloid leukemia (AML), 89 B-lymphoblastic leukemia (B-ALL), 12 T-lymphoblastic leukemia (T-ALL), and 6 cases of mixed phenotype acute leukemia (MPAL). Results: Results of both methods were concordant in 175 (74.7%) of 234 detected gene\/rearrangement fusions. The concordance rate varied significantly across different leukemia types, ranging from 80.2% in B-ALL to 41.7% in T-ALL (p &lt; 0.001) OGM uniquely detected 37 of 234 (15.8%) clinically relevant rearrangements, whereas RNA-Seq exclusively identified 22 of 234 (9.4%). Enhancer-hijacking lesions, including MECOM and BCL11B rearrangements, CDK6::MNX1, and IGH rearrangements, had a markedly lower concordance (20.6%) compared with all other aberrations (93.1%) (p &lt; 0.001). Conversely, some gene fusions arising from intrachromosomal deletions were interpreted by OGM as simple deletions rather than rearrangements or fusions. Conclusions: Targeted RNA-Seq was effective for detecting chimeric fusion transcripts and showed slightly better performance in identifying fusions resulting from deletions. However, OGM was effective for detecting enhancer-hijacking events that do not generate fusion transcripts. Both methods are complementary for the workup of acute leukemia cases.<\/jats:p>","DOI":"10.3390\/cancers17213458","type":"journal-article","created":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T17:02:01Z","timestamp":1761670921000},"page":"3458","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Comparative Analysis of Targeted RNA-Seq and Optical Genome Mapping for Detecting Gene Rearrangements in Acute Leukemia"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6822-7880","authenticated-orcid":false,"given":"Chi Young","family":"Ok","sequence":"first","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9482-4806","authenticated-orcid":false,"given":"Guilin","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8980-3202","authenticated-orcid":false,"given":"Sanam","family":"Loghavi","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7110-3814","authenticated-orcid":false,"given":"Shimin","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0141-9682","authenticated-orcid":false,"given":"Qing","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5304-7828","authenticated-orcid":false,"given":"Andres E.","family":"Quesada","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark J.","family":"Routbort","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7829-5249","authenticated-orcid":false,"given":"Rashmi","family":"Kanagal-Shamanna","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6630-4128","authenticated-orcid":false,"given":"C. Cameron","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iman","family":"Sarami","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Garces","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5354-5704","authenticated-orcid":false,"given":"Nitin K.","family":"Agarwal","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7133-0221","authenticated-orcid":false,"given":"Raja","family":"Luthra","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1780-5959","authenticated-orcid":false,"given":"Hong","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatima Zahra","family":"Jelloul","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Bryan","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6577-8006","authenticated-orcid":false,"given":"L. Jeffrey","family":"Medeiros","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keyur P.","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5305-6337","authenticated-orcid":false,"given":"Gokce A.","family":"Toruner","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Voss, R.K., Pastor Loyola, V.B., Cardenas, M.F., Kumar, P., Maciaszek, J.L., Namwanje, M., Ma, J., Neary, J.L., Jin, M., and Umeda, M. (2025). Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment. Leukemia.","DOI":"10.1038\/s41375-025-02774-5"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Tsai, M.M., Kao, H.J., Chen, H.H., Yu, C.H., Chien, Y.H., Hwu, W.L., Kwok, P.Y., Lee, N.C., and Yang, Y.L. (2025). Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia. Front. Genet., 16.","DOI":"10.3389\/fgene.2025.1496847"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1186\/s13073-024-01331-6","article-title":"Analysis of 3760 hematologic malignancies reveals rare transcriptomic aberrations of driver genes","volume":"16","author":"Cao","year":"2024","journal-title":"Genome Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1038\/s41375-022-01806-8","article-title":"Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia","volume":"37","author":"Ryan","year":"2023","journal-title":"Leukemia"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"3862","DOI":"10.1182\/bloodadvances.2022008992","article-title":"Diagnostic utility of whole genome sequencing in adults with B-other acute lymphoblastic leukemia","volume":"7","author":"Leongamornlert","year":"2023","journal-title":"Blood Adv."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1097\/CCO.0000000000000899","article-title":"The role of next-generation sequencing in acute myeloid leukemia","volume":"34","author":"Llop","year":"2022","journal-title":"Curr. Opin. Oncol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1080\/13696998.2024.2387515","article-title":"Micro-costing of genetic diagnostics in acute leukemia in Sweden: From standard-of-care to whole-genome sequencing","volume":"27","author":"Thangavelu","year":"2024","journal-title":"J. Med. Econ."},{"key":"ref_8","first-page":"13","article-title":"Appraisal of current technologies for the study of genetic alterations in hematologic malignancies with a focus on chromosome analysis and structural variants","volume":"36","author":"Salaverria","year":"2024","journal-title":"Med. Genet."},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"Budurlean, L., Tukaramrao, D.B., Zhang, L., Dovat, S., and Broach, J. (2024). Integrating Optical Genome Mapping and Whole Genome Sequencing in Somatic Structural Variant Detection. J. Pers. Med., 14.","DOI":"10.3390\/jpm14030291"},{"key":"ref_10","doi-asserted-by":"crossref","unstructured":"Rezayee, F., Eisfeldt, J., Skaftason, A., \u00d6fverholm, I., Sayyab, S., Syv\u00e4nen, A.C., Maqbool, K., Lilljebj\u00f6rn, H., Johansson, B., and Olsson-Arvidsson, L. (2023). Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia. Front. Oncol., 13.","DOI":"10.3389\/fonc.2023.1217712"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1182\/blood.2021013568","article-title":"Whole-genome landscape of adult T-cell leukemia\/lymphoma","volume":"139","author":"Kogure","year":"2022","journal-title":"Blood"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.semcancer.2021.07.003","article-title":"Clinical interpretation of whole-genome and whole-transcriptome sequencing for precision oncology","volume":"84","author":"Jobanputra","year":"2022","journal-title":"Semin. Cancer Biol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2228","DOI":"10.1182\/blood.2022015853","article-title":"Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia","volume":"140","author":"Duncavage","year":"2022","journal-title":"Blood"},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Berglund, E., Barbany, G., Orsmark-Pietras, C., Fogelstrand, L., Abrahamsson, J., Golovleva, I., Hallb\u00f6\u00f6k, H., H\u00f6glund, M., Lazarevic, V., and Levin, L. (2022). A Study Protocol for Validation and Implementation of Whole-Genome and -Transcriptome Sequencing as a Comprehensive Precision Diagnostic Test in Acute Leukemias. Front. Med., 9.","DOI":"10.3389\/fmed.2022.842507"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1056\/NEJMoa2024534","article-title":"Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers","volume":"384","author":"Duncavage","year":"2021","journal-title":"N. Engl. J. Med."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Toruner, G.A., Hu, S., Loghavi, S., Ok, C.Y., Tang, Z., Wei, Q., Kanagal-Shamanna, R., Medeiros, L.J., and Tang, G. (2025). Clinical Utility of Optical Genome Mapping as an Additional Tool in a Standard Cytogenetic Workup in Hematological Malignancies. Cancers, 17.","DOI":"10.3390\/cancers17091436"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1029","DOI":"10.1002\/ajh.27688","article-title":"Integration of Optical Genome Mapping in the Cytogenomic and Molecular Work-Up of Hematological Malignancies: Expert Recommendations From the International Consortium for Optical Genome Mapping","volume":"100","author":"Puiggros","year":"2025","journal-title":"Am. J. Hematol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1959","DOI":"10.1002\/ajh.27435","article-title":"Optical genome mapping improves the accuracy of classification, risk stratification, and personalized treatment strategies for patients with acute myeloid leukemia","volume":"99","author":"Loghavi","year":"2024","journal-title":"Am. J. Hematol."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Vieler, L.M., Nilius-Eliliwi, V., Schroers, R., Vangala, D.B., Nguyen, H.P., and Gerding, W.M. (2023). Optical Genome Mapping Reveals and Characterizes Recurrent Aberrations and New Fusion Genes in Adult ALL. Genes, 14.","DOI":"10.3390\/genes14030686"},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Soler, G., Ouedraogo, Z.G., Goumy, C., Lebecque, B., Aspas Requena, G., Ravinet, A., Kanold, J., V\u00e9ron\u00e8se, L., and Tchirkov, A. (2023). Optical Genome Mapping in Routine Cytogenetic Diagnosis of Acute Leukemia. Cancers, 15.","DOI":"10.3390\/cancers15072131"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Nilius-Eliliwi, V., Gerding, W.M., Schroers, R., Nguyen, H.P., and Vangala, D.B. (2023). Optical Genome Mapping for Cytogenetic Diagnostics in AML. Cancers, 15.","DOI":"10.3390\/cancers15061684"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1297","DOI":"10.1182\/bloodadvances.2022007583","article-title":"Optical genome mapping in acute myeloid leukemia: A multicenter evaluation","volume":"7","author":"Levy","year":"2023","journal-title":"Blood Adv."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Coccaro, N., Anelli, L., Zagaria, A., Tarantini, F., Cumbo, C., Tota, G., Minervini, C.F., Minervini, A., Conserva, M.R., and Redavid, I. (2023). Feasibility of Optical Genome Mapping in Cytogenetic Diagnostics of Hematological Neoplasms: A New Way to Look at DNA. Diagnostics, 13.","DOI":"10.3390\/diagnostics13111841"},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Suttorp, J., L\u00fchmann, J.L., Behrens, Y.L., G\u00f6hring, G., Steinemann, D., Reinhardt, D., Neuhoff, N.V., and Schneider, M. (2022). Optical Genome Mapping as a Diagnostic Tool in Pediatric Acute Myeloid Leukemia. Cancers, 14.","DOI":"10.3390\/cancers14092058"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1016\/j.ajhg.2021.06.001","article-title":"Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping","volume":"108","author":"Neveling","year":"2021","journal-title":"Am. J. Hum. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"L\u00fchmann, J.L., Stelter, M., Wolter, M., Kater, J., Lentes, J., Bergmann, A.K., Schieck, M., G\u00f6hring, G., M\u00f6ricke, A., and Cario, G. (2021). The Clinical Utility of Optical Genome Mapping for the Assessment of Genomic Aberrations in Acute Lymphoblastic Leukemia. Cancers, 13.","DOI":"10.3390\/cancers13174388"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1002\/gcc.22971","article-title":"Optical genome mapping, a promising alternative to gold standard cytogenetic approaches in a series of acute lymphoblastic leukemias","volume":"60","author":"Lestringant","year":"2021","journal-title":"Genes Chromosomes Cancer"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s40291-025-00779-5","article-title":"Effective Utilization of a Customized Targeted Hybrid Capture RNA Sequencing in the Routine Molecular Categorization of Adolescent and Adult B-Lineage Acute Lymphoblastic Leukemia: A Real-World Experience","volume":"29","author":"Sreedharanunni","year":"2025","journal-title":"Mol. Diagn. Ther."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.jmoldx.2024.04.006","article-title":"Economic Impact of Whole Genome Sequencing and Whole Transcriptome Sequencing Versus Routine Diagnostic Molecular Testing to Stratify Patients with B-Cell Acute Lymphoblastic Leukemia","volume":"26","author":"Vu","year":"2024","journal-title":"J. Mol. Diagn."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Singh, M., Sharma, P., Bhatia, P., Trehan, A., Thakur, R., and Sreedharanunni, S. (2024). Integrated analysis of transcriptome and genome variations in pediatric T cell acute lymphoblastic leukemia: Data from north Indian tertiary care center. BMC Cancer, 24.","DOI":"10.1186\/s12885-024-12063-6"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"e2200245","DOI":"10.1200\/PO.22.00245","article-title":"Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care","volume":"6","author":"Cuppen","year":"2022","journal-title":"JCO Precis. Oncol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"101190","DOI":"10.1016\/j.beha.2020.101190","article-title":"WGS and WTS in leukaemia: A tool for diagnostics?","volume":"33","author":"Meggendorfer","year":"2020","journal-title":"Best Pract. Res. Clin. Haematol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.leukres.2016.10.009","article-title":"Combination of RNA- and exome sequencing: Increasing specificity for identification of somatic point mutations and indels in acute leukaemia","volume":"51","author":"Hansen","year":"2016","journal-title":"Leuk. Res."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/j.pathol.2024.09.009","article-title":"Next-generation sequencing RNA fusion panel for the diagnosis of haematological malignancies","volume":"57","author":"Ngo","year":"2025","journal-title":"Pathology"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1177\/2632010X241230262","article-title":"RNASeq Analysis for Accurate Identification of Fusion Partners in Tumor Specific Translocations Detected by Standard FISH Probes in Hematologic Malignancies","volume":"17","author":"Koduru","year":"2024","journal-title":"Clin. Pathol."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"5629","DOI":"10.1002\/cam4.4101","article-title":"Mutational profiling in acute lymphoblastic leukemia by RNA sequencing and chromosomal genomic array testing","volume":"10","author":"Yeung","year":"2021","journal-title":"Cancer Med."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"e522","DOI":"10.1097\/HS9.0000000000000522","article-title":"Performances of Targeted RNA Sequencing for the Analysis of Fusion Transcripts, Gene Mutation, and Expression in Hematological Malignancies","volume":"5","author":"Hayette","year":"2021","journal-title":"Hemasphere"},{"key":"ref_38","unstructured":"(2025, October 21). Archer\u2122 Analysis, Available online: https:\/\/sfvideo.blob.core.windows.net\/sitefinity\/docs\/default-source\/user-guide-manual\/archer-analysis-user-guide.pdf?sfvrsn=b36f207_3."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1903","DOI":"10.1038\/s41436-019-0545-7","article-title":"Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: A joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC)","volume":"21","author":"Mikhail","year":"2019","journal-title":"Genet. Med."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.jmoldx.2016.10.002","article-title":"Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists","volume":"19","author":"Li","year":"2017","journal-title":"J. Mol. Diagn."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1158\/2643-3230.BCD-23-0211","article-title":"Oncogenic Enhancers in Leukemia","volume":"5","author":"Delwel","year":"2024","journal-title":"Blood Cancer Discov."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1642","DOI":"10.1073\/pnas.93.4.1642","article-title":"Intergenic splicing of MDS1 and EVI1 occurs in normal tissues as well as in myeloid leukemia and produces a new member of the PR domain family","volume":"93","author":"Fears","year":"1996","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_43","first-page":"925","article-title":"Alternative splicing of the Evi-1 zinc finger gene generates mRNAs which differ by the number of zinc finger motifs","volume":"5","author":"Bordereaux","year":"1990","journal-title":"Oncogene"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"2168","DOI":"10.1073\/pnas.1119229109","article-title":"Ecotopic viral integration site 1 (EVI1) regulates multiple cellular processes important for cancer and is a synergistic partner for FOS protein in invasive tumors","volume":"109","author":"Jeyakani","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_45","first-page":"E2885","article-title":"EVI1 oncoprotein interacts with a large and complex network of proteins and integrates signals through protein phosphorylation","volume":"110","author":"Gunaratne","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_46","doi-asserted-by":"crossref","unstructured":"Glass, C., Wuertzer, C., Cui, X., Bi, Y., Davuluri, R., Xiao, Y.Y., Wilson, M., Owens, K., Zhang, Y., and Perkins, A. (2013). Global Identification of EVI1 Target Genes in Acute Myeloid Leukemia. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0067134"},{"key":"ref_47","first-page":"773","article-title":"14q32 rearrangements deregulating BCL11B mark a distinct subgroup of T-lymphoid and myeloid immature acute leukemia","volume":"138","author":"Gorello","year":"2021","journal-title":"Blood"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2846","DOI":"10.1158\/2159-8290.CD-21-0145","article-title":"Enhancer Hijacking Drives Oncogenic BCL11B Expression in Lineage-Ambiguous Stem Cell Leukemia","volume":"11","author":"Montefiori","year":"2021","journal-title":"Cancer Discov."},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Wei, Q., Hu, S., Xu, J., Loghavi, S., Daver, N., Toruner, G.A., Wang, W., Medeiros, L.J., and Tang, G. (2024). Detection of KMT2A Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes. Cancers, 16.","DOI":"10.3390\/cancers16244193"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1056\/NEJMoa025217","article-title":"A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome","volume":"348","author":"Cools","year":"2003","journal-title":"N. Engl. J. Med."}],"container-title":["Cancers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6694\/17\/21\/3458\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T17:18:26Z","timestamp":1761671906000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6694\/17\/21\/3458"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,28]]},"references-count":50,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2025,11]]}},"alternative-id":["cancers17213458"],"URL":"https:\/\/doi.org\/10.3390\/cancers17213458","relation":{},"ISSN":["2072-6694"],"issn-type":[{"value":"2072-6694","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,28]]}}}