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Table 1 Recurrent genomic abnormalities in Philadelphia chromosome (Ph)-positive leukemia

From: The Philadelphia chromosome in leukemogenesis

Genomic abnormality Location Status Ph-positive leukemia Frequency Reference(s)
IKZF1 7q12.2 Deletion ALL 50%–83% [162, 164]
Deletion Lymphoid CML-BC 73%–75% [163, 180]
PAX5 9p13 Deletion ALL 33%–51% [171, 172, 180]
Deletion Lymphoid CML-BC 58.3% [180]
EBF1 5q34 Deletion ALL 14% [198]
CDKN2A/B 9p13-p23.1 Deletion AML 50% [66]
Deletion MPAL 33.3% [66]
Deletion ALL 53.5% [163, 164]
Deletion Lymphoid CML-BC 58.3%–69% [180]
IG 14q32.33 IGHV/IGHG2 M deletion Lymphoid CML-BC 66%–100% [66, 163, 180]
22q11.2 IGLL1 deletion AML 66.7% [66]
TCR 14q11.2/7p14.1 TCRA/B/D deletion AML/MPAL 66.7% [66]
14q11.2 TCRA deletion Lymphoid CML-BC 74% [66, 180]
BTG1 12q21.33 Deletion BCP-ALL 11%–31.3% [176]
  Deletion MPAL 33.3% [176]
  Deletion CML-BC (B-lineage) 33.3% [176]
  1. IKZF1 transcription factor IKAROS family zinc finger protein 1, PAX5 paired box 5, EBF1 early B-cell factor 1, CDKN2A/B cyclin-dependent kinase inhibitor 2, IG immunoglobulin, TCR T-cell receptor, BTG1 B-cell translocation gene 1, IGHV immunoglobulin heavy chain variable region, IGHG2M immunoglobulin heavy constant gamma 2, IGLL1 immunoglobulin lambda-like polypeptide 1, TCRA T-cell receptor alpha locus, ALL acute lymphoblastic leukemia, CML-BC chronic myeloid leukemia blast crisis, AML acute myeloid leukemia, MPAL mixed-phenotype acute leukemia, BCP-ALL B-cell precursor ALL