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| Blood. 2018 Oct 3. pii: blood-2018-03-842088. doi: 10.1182/blood-2018-03-842088 |
| IG--positive neoplasms with precursor B-cell phenotype are molecularly distinct from Burkitt lymphomas. |
| Wagener R1, López C2, Kleinheinz K3, Bausinger J4, Aukema SM5, Nagel I6, Toprak UH7, Seufert J8, Altmüller J9, Thiele H10, Schneider C11, Kolarova J12, Park J13, Hübschmann D14, Murga Penas EM15, Drexler HG16, Attarbaschi A17, Hovland R18, Kjeldsen E19, Kneba M20, Kontny U21, de Leval L22, Nürnberg P23, Oschlies I24, Oscier D25, Schlegelberger B26, Stilgenbauer S27, Wössmann W28, Schlesner M29, Burkhardt B30, Klapper W31, Jaffe ES32, Küppers R33, Siebert R34 |
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Abstract The "WHO Classification of Tumours of Haematopoietic and Lymphoid Tissue" notes instances of Burkitt lymphoma/leukemia (BL) with IG--rearrangement displaying a B-cell precursor immunophenotype (termed herein "preBLL"). To characterize the molecular pathogenesis of preBLL we investigated 13 preBLL cases (including one cell line) of which 12 were analyzable using genome, exome, and targeted sequencing, imbalance mapping, and DNA-methylation profiling. In five patients with reads across the IG- breakpoint junctions we found evidence that the translocation derived from an aberrant VDJ-recombination, as typical for IG translocations arising in B-cell precursors. Genomic changes like bi-allelic IGH-translocations or VDJ-rearrangements combined with translocation into the VDJ-region on the second allele potentially preventing expression of a productive immunoglobulin were detected in 6/13 cases. We did not detect mutations in genes frequently altered in BL, but instead activating and/or mutations in 7/12 preBLL. Gains on 1q, recurrent in BL and preB-lymphoblastic leukemia/lymphoma (pB-ALL/LBL), were detected in 7/12 preBLL. DNA-methylation profiling showed the preBLL to cluster with precursor B-cells and pB-ALL/LBL but apart from BL. We conclude that preBLL genetically and epigenetically resemble pB-ALL/LBL rather than BL. Thus, we propose that BL with B-cell precursor phenotype should be considered as a pB-ALL/LBL with recurrent genetic abnormalities. |
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Copyright © 2018 American Society of Hematology. |
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Publikations ID: 30282799 Quelle: öffnen |
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