Clonal origins of relapse in ETV6-RUNX1 acute lymphoblastic leukemia

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Presentation transcript:

Clonal origins of relapse in ETV6-RUNX1 acute lymphoblastic leukemia by Frederik W. van Delft, Sharon Horsley, Sue Colman, Kristina Anderson, Caroline Bateman, Helena Kempski, Jan Zuna, Cornelia Eckert, Vaskar Saha, Lyndal Kearney, Anthony Ford, and Mel Greaves Blood Volume 117(23):6247-6254 June 9, 2011 ©2011 by American Society of Hematology

Log2 ratio SNP 500K copy number data (median smoothed with a window of 5 markers; blue is loss and red is gain). Log2 ratio SNP 500K copy number data (median smoothed with a window of 5 markers; blue is loss and red is gain). (A) Genomic copy number of chromosome 12p flanking ETV6 for 14 representative cases showing deletions at this locus at presentation (P) and relapse (R). (B) Copy number of chromosome 9p flanking CDKN2A/B. (C) Copy number of chromosome 6q. The chromosomal region of 6q16.2-3 which is recurrently deleted in pediatric ALL is indicated. Frederik W. van Delft et al. Blood 2011;117:6247-6254 ©2011 by American Society of Hematology

FISH analysis of UPN2 at presentation, using the LSI TEL/AML1 ES Dual-Color translocation probe (Vysis) and CDKN2A probe. FISH analysis of UPN2 at presentation, using the LSI TEL/AML1 ES Dual-Color translocation probe (Vysis) and CDKN2A probe. The red signal represents the RUNX1 probe; green, the ETV6 probe; yellow, the ETV6-RUNX1 fusion gene; and purple, the CDKN2A probe. This image represents 2 different leukemic cells at presentation. The cell in the right bottom corner represents the dominant leukemic clone (according to the SNP array data analysis), with duplicated fusion gene, loss of wild-type ETV6, 2 copies of CDKN2A, 1 normal RUNX1, and 1 ES (72% of total cells analyzed). In the left top corner FISH analysis identified a leukemic cell with a constellation of signals corresponding to the dominant relapse clone, that is, a duplicated fusion gene, loss of wild-type ETV6, 1 normal RUNX1, 1 ES, and complete loss of CDKN2A (0.4% of total cells analyzed). In control experiments with normal blood lymphocytes from 5 donors, using the same probe combination, this CNA pattern was not observed in any cells (< 0.2%). Frederik W. van Delft et al. Blood 2011;117:6247-6254 ©2011 by American Society of Hematology