Detection of two distinct MLL-AF4 fusion transcripts in a neonatal acute leukemia case undergoing a rapid lineage switch after diagnosis

Abstract

Event Abstract Back to Event Detection of two distinct MLL-AF4 fusion transcripts in a neonatal acute leukemia case undergoing a rapid lineage switch after diagnosis Vlad A. Cianga1*, Emanuel Caranfil1, Iuliu Ivanov1, 2 and Mihaela Zlei1, 2 1 Grigore T. Popa University of Medicine and Pharmacy, Iasi, Romania 2 Regional Institute of Oncology Iasi, Romania Context: The importance of genetic events in the classification, therapy, and prognosis of ALL has gained recently growing credit. Amongst those events, mixed lineage leukemia (MLL) gene rearrangements may be found in leukemia cases of either lymphoid or myeloid phenotypes and translocation t(4;11)(q21;q23) is often associated with pediatric cases. Objective: To present the clinical-laboratory particularities of a MLL-AF4 positive pediatric leukemia case in which the cell lineage switched early from ALL to AML. Material and Method: In a bone marrow sample of a two months old girl suspected of ALL, the presence of 4 fusion transcripts: BCR-ABL, MLL-AF4, E2A-PBX1, TEL-AML1 was assessed. Flow cytometry analyses were carried out on a FACSCanto-II cytometer. Results: While at diagnosis a dominant malignant clone displaying a pro-B lymphoid phenotype was described, two weeks later, under corticotherapy, a malignant monocytoid population predominantly expanded. With both occasions, the patient was found to be positive for two distinct MLL-AF4 transcripts: e11-e4 and e10-e4. The bilineage nature of the case suggests that t(4;11) transforms a multipotential progenitor cell. Similar to other reports, this case is predictable to have an aggressive evolution, although expected to benefit from allogeneic HSCT. Two months after the initiation of induction therapy the patient has not achieved remission and has an indication for a more intensive chemotherapy. Conclusion: Sensitive detection of MLL rearrangements, accurate lineage assignment, and early lineage switch prediction may have a crucial clinical impact, supporting the clinician in treatment making decisions and increasing the precision of minimal residual disease detection. Keywords: Neonatal acute leukemia, translocation t(4;11)(q21;q23), cell lineage switch, BCR-ABL, E2A-PBX1, MLL-AF4 fusion transcripts, e10-e4, e11-e4, Minimal Residual Disease Conference: 15th International Congress of Immunology (ICI), Milan, Italy, 22 Aug - 27 Aug, 2013. Presentation Type: Abstract Topic: Immune-mediated disease pathogenesis Citation: Cianga VA, Caranfil E, Ivanov I and Zlei M (2013). Detection of two distinct MLL-AF4 fusion transcripts in a neonatal acute leukemia case undergoing a rapid lineage switch after diagnosis. Front. Immunol. Conference Abstract: 15th International Congress of Immunology (ICI). doi: 10.3389/conf.fimmu.2013.02.00922 Copyright: The abstracts in this collection have not been subject to any Frontiers peer review or checks, and are not endorsed by Frontiers. They are made available through the Frontiers publishing platform as a service to conference organizers and presenters. The copyright in the individual abstracts is owned by the author of each abstract or his/her employer unless otherwise stated. Each abstract, as well as the collection of abstracts, are published under a Creative Commons CC-BY 4.0 (attribution) licence (https://creativecommons.org/licenses/by/4.0/) and may thus be reproduced, translated, adapted and be the subject of derivative works provided the authors and Frontiers are attributed. For Frontiers’ terms and conditions please see https://www.frontiersin.org/legal/terms-and-conditions. Received: 25 Jun 2013; Published Online: 22 Aug 2013. * Correspondence: Mr. Vlad A Cianga, Grigore T. Popa University of Medicine and Pharmacy, Iasi, Iasi, Romania, acianga20@yahoo.com Login Required This action requires you to be registered with Frontiers and logged in. To register or login click here. Abstract Info Abstract The Authors in Frontiers Vlad A Cianga Emanuel Caranfil Iuliu Ivanov Mihaela Zlei Google Vlad A Cianga Emanuel Caranfil Iuliu Ivanov Mihaela Zlei Google Scholar Vlad A Cianga Emanuel Caranfil Iuliu Ivanov Mihaela Zlei PubMed Vlad A Cianga Emanuel Caranfil Iuliu Ivanov Mihaela Zlei Related Article in Frontiers Google Scholar PubMed Abstract Close Back to top Javascript is disabled. Please enable Javascript in your browser settings in order to see all the content on this page.