Table 2.

Biological function of genes affected by a fusion event and their potential role in leukemogenesis.

Sample	Fusion	Gene Function	Category	Fusion Protein Putative Function
20	CPD-PXT1	CPD encodes for a metallocarboxypeptidase [11]	NF1 loss	The breakpoint in CPD was associated with a complex rearrangements that involved the loss of NF1. The sample was also characterized by a mutation in NF1 detected by WES.
		The role of PXT1 is unknown
20	SAV1-GYPB	SAV1 is a tumor suppressor of the Hippo pathway [12]	Tumor suppressor	Loss of function of SAV1.
		GYBP is a sialoglycoproteins of the human erythrocyte membrane [13]
21	OAZ-MAFK	OAZ1 is an Ornithine decarboxylase (ODC) antizyme protein that negatively regulates ODC activity [14]	Transcription factor	The chimera may alter the cellular transcriptional program.
		MAFK is a transcriptional regulator with bZIP domains [15]
68187	UTP6-CRLF3	UTP6 is involved in nucleolar processing of pre-18S ribosomal RNA and centriole duplication [16]	NF1 loss	The rearrangement led to a CN loss involving NF1, which maps in the forward strand of chromosome 17: 29421945-29709134 (GRCh37).
		CRLF3 is a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase [17]
125	PUF60-TYW1	PUF60 participates in the splicing machinery [18,20]	Tumor suppressor	PUF60 haploinsufficiency was involved in TP53-dependent progression of a T-cell acute lymphoblastic leukaemia [20].
		TYW1 may be a component of the wybutosine biosynthesis pathway [19]
59810	CNOT2-WT1	CNOT2 encodes for a subunit of the multi-component CCR4-NOT complex, which is involved in transcriptional regulation and mRNA degradation [21,22,23]	Tumor suppressor	The translocation was associated to a deletion at 5’ of WT1, which lead to its CN loss.
		WT1 is a transcription factor and it is recurrently altered in haematological malignancies, including AML [2]
59810	ZEB2-BCL11B and BCL11B-ZEB2	ZEB2 is a transcriptional factor involved in normal and malignant haematopoiesis [24,25]	Transcription factor	The chimera may activate an aberrant transcriptional programme.
		BCL11B is a transcription factor and key regulator of both differentiation and survival of T-lymphocytes during thymocyte development [26]