EURURO Vol. 72 No. 4

Patients assigned to cluster 1 or cluster 2 had zero

recorded events with respect to cancer-specific survival

( Fig. 3

c), while patients in cluster 2 had worse overall

survival

( Fig. 3 B

3.5.

Novel SH3KBP1-CNTNAP5 gene fusion

We identified two fusion transcripts via RNAseq (Supple-

mentary Table 4). RT-PCR using primers spanning the fusion

junctions was performed for each of the predicted fusion

transcripts

( Fig. 4 )

, and DNA sequencing validated the

fusion junction. In addition to the previously reported

FGFR3-TACC3

fusion

[11,25]

, we observed a novel

SH3KBP1-

CNTNAP5

fusion. It has been reported that SH3KBP1, also

known as CIN85 (cbl-interacting protein of 85 kDa),

promotes cancer progression in multiple cancer types,

including colon

[26]

, breast

[27]

, and head and neck

[28]

cancers. SH3KBP1 is reported to play a role in the regulation

of RTK signaling

[29]

. A recent study found that SH3KBP1

acts to recycle TGF

receptors

[30]

. The expression level of

[(Fig._2)TD$FIG]

Fig. 2 – Molecular characteristics of high- and low-grade tumors. (A) Samples with mutations in genes that are components of p53 signaling (KEGG

pathways) are represented by a tile plot. Pathologic grade and stage are indicated by tracks on top, along with a track indicating whether samples

have a mutation in at least one gene in the pathway. (B) Copy number alterations in high- and low-grade samples. The main panel represents the

chromosomal segment, with mean copy number ratios for each sample. The top panel represents the fraction of the genome with copy number gains

(pink), amplification (red), losses (light blue), and deletions (blue) for each sample. The right panel represents the chromosomal segment-wise fraction

of samples with copy number alterations. Mutations in DNA repair genes are indicated in the bottom panel. (C) Relative levels of proteins measured by

reverse-phase protein array (RPPA). Shown are the proteins with significantly different levels (

0.01) between the high- and low-grade samples.

E U R O P E A N U R O L O G Y 7 2 ( 2 0 1 7 ) 6 4 1 – 6 4 9

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