dc.contributor.author | Martín Guerrero, Idoia | |
dc.contributor.author | Salaverria, Itziar | |
dc.contributor.author | Burkhardt, Birgit | |
dc.contributor.author | Chassagne-Clement, Catherine | |
dc.contributor.author | Szczepanowski, Monika | |
dc.contributor.author | Bens, Susanne | |
dc.contributor.author | Klapper, Wolfram | |
dc.contributor.author | Zimmermann, Martin | |
dc.contributor.author | Kabickova, Edita | |
dc.contributor.author | Bertrand, Yves | |
dc.contributor.author | Reiter, Alfred | |
dc.contributor.author | Siebert, Reiner | |
dc.contributor.author | Oschlies, Ilske | |
dc.date.accessioned | 2024-02-05T16:48:25Z | |
dc.date.available | 2024-02-05T16:48:25Z | |
dc.date.issued | 2018-12-22 | |
dc.identifier.citation | Genes Chromosomes Cancer 58(6) : 365–372 (2019) | es_ES |
dc.identifier.issn | 1098-2264 | |
dc.identifier.issn | 1045-2257 | |
dc.identifier.uri | http://hdl.handle.net/10810/64650 | |
dc.description.abstract | Rare cases of hematological precursor neoplasms fulfill the diagnostic criteria of mixed phenotype acute leukemia (MPAL), characterized by expression patterns of at least two hematopoietic lineages, for which a highly aggressive behavior was reported. We present a series of 11 pediatric non-leukemic MPAL identified among 146 precursor lymphoblastic lymphomas included in the prospective trial Euro-LBL 02. Paraffin embedded biopsies of 10 cases were suitable for molecular analyses using OncoScan assay (n=7), fluorescence in situ hybridization (FISH) (n=7) or both (n=5). Except for one case with biallelic KMT2A (MLL) breaks, all cases analyzed by FISH lacked the most common translocations defining molecular subsets of lymphoblastic leukemia/lymphomas. Two non-leukemic B-myeloid MPALs showed the typical genomic profile of hyperdiploid precursor B-cell lymphoblastic leukemia with gains of chromosomes 4, 6, 10, 14, 18 and 21. One B-T MPAL showed typical aberrations of T-cell lymphoblastic lymphoma, such as copy number neutral loss of heterozygosity (CNN-LOH) at 9p targeting a 9p21.3 deletion of CDKN2A and 11q12.2-qter affecting the ATM gene. ATM was also mutated in a T-myeloid MPAL case with additional loss at 7q21.2-q36.3 and mutation of NRAS, two alterations common in myeloid disorders. No recurrent regions of CNN-LOH were observed. The outcome under treatment was good with all patients being alive in first complete remission after treatment according to a protocol for precursor lymphoblastic lymphoma (follow-up 3-10 years, median: 4.9 years). In summary, the present series of non-leukemic MPALs widely lacked recurrently reported translocations in lymphoid/myeloid neoplasias and showed heterogeneous spectrum of chromosomal imbalances. | es_ES |
dc.description.sponsorship | The trial EURO-LB 02 has been supported by the Deutsche Krebshilfe (grants 102595 and 107813) (A.Re.). This study has been supported by the Kinder Krebs Initiative Buchholz/Holm-Seppensen (IO, WK and RS). I.M.G. was supported by a grant from the Basque Government and UFI11/35. I.S. was supported by the Alexander von Humboldt Foundation and Miguel Servet contract (CP13/00159). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Wiley | |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.subject | mixed phenotype acute leukemia/lymphoma | es_ES |
dc.subject | copy number | |
dc.subject | pediatric lymphoblastic lymphoma | |
dc.subject | translocation | |
dc.title | Non-leukemic pediatric mixed phenotype acute leukemia/lymphoma: genomic characterization and clinical outcome in a prospective trial for pediatric lymphoblastic lymphoma | es_ES |
dc.type | info:eu-repo/semantics/preprint | es_ES |
dc.rights.holder | © 2018 Wiley Periodicals, Inc. | es_ES |
dc.relation.publisherversion | https://doi.org/10.1002/gcc.22726 | |
dc.identifier.doi | 10.1002/gcc.22726 | |
dc.departamentoes | Genética, antropología física y fisiología animal | es_ES |
dc.departamentoeu | Genetika,antropologia fisikoa eta animalien fisiologia | es_ES |