The Philadelphia chromosome in leukemogenesis

Cancer Communications

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

Genomic abnormality	Location	Status	Ph-positive leukemia	Frequency	Reference(s)
IKZF1	7q12.2	Deletion	ALL	50%–83%	[162, 164]
IKZF1	7q12.2	Deletion	Lymphoid CML-BC	73%–75%	[163, 180]
PAX5	9p13	Deletion	ALL	33%–51%	[171, 172, 180]
PAX5	9p13	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]
IG	22q11.2	IGLL1 deletion	AML	66.7%	[66]
TCR	14q11.2/7p14.1	TCRA/B/D deletion	AML/MPAL	66.7%	[66]
TCR	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]

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

ISSN: 2523-3548