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Identification of Combinatorial Genomic Abnormalities Associated with Prostate Cancer Early Recurrence
Xiaoyu Qu1,2, Claudio Jeldres5, Lena Glaskova2, Cynthia Friedman2, Sarah Schroeder2, Peter S Nelson1,4,#, Christopher Porter3,#, Min Fang1,2,4,#
1Fred Hutchinson Cancer Research Center, Seattle, WA
2Seattle Cancer Care Alliance, Seattle, WA
3Virginia Mason Medical Center, Seattle, WA
4University of Washington, Seattle, WA
5Department of Urology, University of Sherbrooke, Sherbrooke, Canada
#Co-senior authors
Identification of Combinatorial Genomic Abnormalities Associated with Prostate Cancer Early Recurrence
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| CaseNumber | TMPRSS2/ERG FISH | AR FISH | PTEN FISH | Panel
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| Case 1 | na | Normal | Normal | na
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| Case 2 | Normal | Normal | Normal | Category 1
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| Case 3 | na | na | na | na
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| Case 4 | Normal | Normal | Normal | Category 1
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| Case 5 | Normal | Normal | Heterozygous deletion | Category 3
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| Case 6 | Normal | Normal | Normal | Category 1
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| Case 7 | CNI | Gain of AR and CEPX but no amplification | Trisomy 10 | Category 4
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| Case 8 | na | Normal | Normal | na
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| Case 9 | Alternative rearrangement | Normal | Normal | Category 6
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| Case 10 | Normal | Normal | Normal | Category 1
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| Case 11 | Normal | Normal | Heterozygous deletion | Category 3
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| Case 12 | na | na | na | na
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| Case 13 | Normal | Normal | Normal | Category 1
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| Case 14 | Rearranged 3'ERG | Normal | Heterozygous deletion | Category 5
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| Case 15 | Normal | Normal | Normal | Category 1
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| Case 16 | Normal | Normal | Normal | Category 1
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| Case 17 | Normal | Normal | Normal | Category 1
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| Case 18 | Typical fusion | Normal | Normal | Category 2
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| Case 19 | Typical fusion | Normal | Normal | Category 2
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| Case 20 | Normal | Normal | Normal | Category 1
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| Case 21 | Normal | Normal | Heterozygous deletion | Category 3
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| Case 22 | Normal | Normal | Normal | Category 1
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| Case 23 | na | na | na | na
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| Case 24 | Rearranged 3'ERG | Normal | Heterozygous deletion | Category 5
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| Case 25 | na | na | na | na
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| Case 26 | na | Normal | na | na
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| Case 27 | Rearranged 3'ERG | Normal | Normal | Category 2
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| Case 28 | Normal | Normal | Normal | Category 1
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| Case 29 | Normal | Normal | Normal | Category 1
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| Case 30 | Normal | Normal | Normal | Category 1
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| Case 31 | Normal | Normal | Normal | Category 1
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| Case 33 | Atypical or complex fusion | Normal | Homozygous deletion | Category 5
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| Case 34 | Normal | Normal | Normal | Category 1
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| Case 35 | Rearranged 3'ERG | Normal | Normal | Category 2
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| Case 36 | Typical fusion | Normal | Normal | Category 2
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| Case 37 | Normal | Normal | Normal | Category 1
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| Case 38 | CNI | Normal | Trisomy 10 | Category 6
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| Case 39 | na | na | na | na
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| Case 40 | Typical fusion | Normal | Normal | Category 2
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| Case 41 | Typical fusion | Normal | Normal | Category 2
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| Case 42 | na | Normal | na | na
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| Case 43 | na | na | na | na
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| Case 44 | Atypical or complex fusion | Normal | Heterozygous deletion | Category 5
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| Case 45 | na | na | na | na
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| Case 46 | Normal | Normal | Normal | Category 1
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| Case 47 | na | Normal | Normal | na
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| Case 48 | Typical fusion | Normal | Homozygous deletion | Category 5
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| Case 49 | Typical fusion | Normal | Trisomy 10 | Category 2
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| Case 50 | na | na | na | na
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| Case 51 | na | Normal | na | na
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| Case 52 | Normal | Normal | Normal | Category 1
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| Case 53 | Typical fusion | Gain of AR and CEPX but no amplification | Trisomy 10 | Category 4
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| Case 54 | Normal | Normal | Normal | Category 1
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| Case 55 | Rearranged 3'ERG | Normal | Normal | Category 2
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| Case 56 | Normal | Normal | Normal | Category 1
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| Case 57 | Normal | Normal | Heterozygous deletion | Category 3
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| Case 58 | Normal | Normal | Normal | Category 1
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| Case 59 | Normal | Normal | Normal | Category 1
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| Case 60 | Normal | Normal | Normal | Category 1
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| Case 61 | Atypical or complex fusion | Normal | Homozygous deletion | Category 5
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| Case 62 | Normal | Normal | Normal | Category 1
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| Case 63 | Rearranged 3'ERG | Normal | na | na
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| Case 64 | na | na | na | na
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| Case 65 | Alternative rearrangement | Normal | Normal | Category 6
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| Case 66 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 67 | Normal | Normal | Normal | Category 1
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| Case 68 | na | Normal | na | na
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| Case 69 | na | Normal | Normal | na
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| Case 70 | Alternative rearrangement | Normal | Normal | Category 6
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| Case 71 | Normal | Normal | Normal | Category 1
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| Case 72 | Typical fusion | Normal | Normal | Category 2
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| Case 74 | Rearranged 3'ERG | Normal | Heterozygous deletion | Category 5
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| Case 75 | Typical fusion | Normal | Monosomy 10 | Category 5
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| Case 76 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 77 | Typical fusion | Normal | Normal | Category 2
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| Case 78 | Normal | Normal | Normal | Category 1
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| Case 79 | Typical fusion | Normal | Normal | Category 2
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| Case 80 | Normal | Normal | Heterozygous deletion | Category 3
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| Case 81 | Normal | Normal | Normal | Category 1
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| Case 82 | na | na | na | na
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| Case 83 | Normal | Normal | Monosomy 10 | Category 3
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| Case 84 | Typical fusion | Normal | Normal | Category 2
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| Case 85 | Typical fusion | Normal | Normal | Category 2
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| Case 86 | na | na | na | na
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| Case 87 | Normal | Normal | Heterozygous deletion | Category 3
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| Case 88 | Normal | Normal | Normal | Category 1
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| Case 89 | na | na | na | na
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| Case 90 | na | Normal | na | na
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| Case 91 | na | na | na | na
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| Case 92 | Typical fusion | Normal | Homozygous deletion | Category 5
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| Case 93 | Typical fusion | Normal | Homozygous deletion | Category 5
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| Case 94 | Normal | Normal | Normal | Category 1
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| Case 95 | CNI | Normal | Heterozygous deletion | Category 3
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| Case 96 | Normal | Normal | Normal | Category 1
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| Case 97 | Alternative rearrangement | Normal | Normal | Category 6
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| Case 98 | Normal | Normal | na | na
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| Case 99 | na | na | na | na
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| Case 100 | na | na | na | na
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| Case 101 | Typical fusion | Normal | Heterozygous deletion | Category 5
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| Case 102 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 103 | Typical fusion | Normal | Normal | Category 2
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| Case 104 | Normal | Normal | Normal | Category 1
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| Case 105 | na | na | na | na
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| Case 106 | na | na | na | na
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| Case 108 | Alternative rearrangement | Normal | Trisomy 10 | Category 6
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| Case 109 | Typical fusion | Gain of AR and CEPX but no amplification | Trisomy 10 | Category 4
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| Case 110 | na | na | na | na
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| Case 111 | na | na | na | na
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| Case 112 | Normal | Normal | Normal | Category 1
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| Case 113 | Typical fusion | Normal | Normal | Category 2
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| Case 114 | Normal | Normal | Normal | Category 1
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| Case 115 | Atypical or complex fusion | na | Heterozygous deletion | na
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| Case 116 | Normal | Normal | Normal | Category 1
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| Case 117 | Normal | Normal | Normal | Category 1
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| Case 118 | Typical fusion | Normal | Normal | Category 2
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| Case 119 | Normal | Normal | Normal | Category 1
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| Case 120 | Atypical or complex fusion | na | na | na
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| Case 121 | na | Normal | Normal | na
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| Case 122 | Normal | Normal | Normal | Category 1
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| Case 123 | Normal | Normal | Normal | Category 1
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| Case 124 | Typical fusion | Normal | Normal | Category 2
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| Case 125 | CNI | Normal | Trisomy 10 | Category 6
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| Case 126 | Normal | Normal | Normal | Category 1
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| Case 127 | na | na | na | na
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| Case 128 | Typical fusion | Normal | Normal | Category 2
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| Case 129 | na | Normal | Normal | na
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| Case 130 | na | Normal | Trisomy 10 | na
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| Case 131 | na | na | na | na
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| Case 132 | na | Normal | Heterozygous deletion | na
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| Case 133 | na | na | na | na
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| Case 134 | Typical fusion | Normal | Normal | Category 2
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| Case 135 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 136 | Normal | Normal | Normal | Category 1
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| Case 137 | Normal | Normal | Normal | Category 1
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| Case 138 | na | Normal | Normal | na
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| Case 139 | Typical fusion | Normal | Heterozygous deletion | Category 5
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| Case 140 | CNI | Normal | Normal | Category 6
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| Case 141 | Typical fusion | Normal | Normal | Category 2
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| Case 142 | CNI | Normal | Normal | Category 6
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| Case 143 | Normal | Normal | Normal | Category 1
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| Case 144 | na | Normal | Normal | na
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| Case 145 | Normal | Normal | Normal | Category 1
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| Case 146 | Normal | Normal | Normal | Category 1
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| Case 147 | Atypical or complex fusion | Normal | Heterozygous deletion | Category 5
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| Case 148 | Normal | na | na | na
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| Case 149 | na | Normal | Normal | na
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| Case 150 | CNI | Normal | Normal | Category 6
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| Case 151 | Normal | Normal | Normal | Category 1
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| Case 152 | na | na | na | na
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| Case 153 | Typical fusion | Normal | Normal | Category 2
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| Case 154 | Normal | Gain of AR and CEPX but no amplification | Trisomy 10 | Category 4
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| Case 155 | Typical fusion | Normal | Normal | Category 2
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| Case 156 | Typical fusion | Normal | Normal | Category 2
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| Case 158 | Normal | Normal | Normal | Category 1
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| Case 159 | na | na | na | na
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| Case 160 | Typical fusion | Normal | Heterozygous deletion | Category 5
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| Case 161 | na | na | na | na
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| Case 162 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 163 | Typical fusion | Normal | Normal | Category 2
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| Case 164 | Normal | Gain of AR and CEPX but no amplification | Trisomy 10 | Category 4
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| Case 165 | Normal | Normal | Normal | Category 1
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| Case 166 | na | na | na | na
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| Case 167 | na | na | na | na
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| Case 168 | na | Normal | Normal | na
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| Case 169 | Normal | Normal | Heterozygous deletion | Category 3
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| Case 170 | Typical fusion | Normal | Normal | Category 2
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| Case 171 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 172 | Typical fusion | Normal | Normal | Category 2
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| Case 173 | Normal | Normal | Normal | Category 1
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| Case 174 | CNI | Normal | Trisomy 10 | Category 6
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| Case 175 | CNI | Gain of AR and CEPX but no amplification | Homozygous deletion | Category 3
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| Case 176 | na | na | na | na
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| Case 177 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 178 | Atypical or complex fusion | Normal | Trisomy 10 | Category 2
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| Case 179 | Normal | Normal | Normal | Category 1
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| Case 180 | na | na | na | na
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| Case 181 | Rearranged 3'ERG | Normal | Normal | Category 2
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| Case 182 | Normal | Normal | Normal | Category 1
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| Case 183 | Normal | Normal | Normal | Category 1
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| Case 184 | Normal | Normal | Normal | Category 1
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| Case 185 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 186 | Normal | Normal | Normal | Category 1
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| Case 187 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 188 | Typical fusion | Normal | Normal | Category 2
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| Case 189 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 190 | Normal | Normal | Normal | Category 1
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| Case 191 | na | na | na | na
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| Case 192 | Normal | Normal | Normal | Category 1
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| Case 193 | na | na | na | na
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| Case 194 | na | na | na | na
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| Case 195 | Normal | na | na | na
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| Case 196 | Alternative rearrangement | Normal | Normal | Category 6
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| Case 197 | na | na | na | na
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| Case 198 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 199 | na | na | na | na
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| Case 200 | Typical fusion | Normal | na | na
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| Case 201 | Alternative rearrangement | Normal | Normal | Category 6
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| Case 202 | Normal | Normal | Normal | Category 1
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| Case 203 | CNI | Normal | Normal | Category 6
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| Case 204 | na | na | na | na
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| Case 205 | CNI | Gain of AR and CEPX but no amplification | Trisomy 10 | Category 4
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| Case 206 | Atypical or complex fusion | Normal | Normal | Category 2
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| Case 207 | Atypical or complex fusion | Normal | Trisomy 10 | Category 2
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| Case 208 | Typical fusion | Normal | Homozygous deletion | Category 5
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| Case 209 | CNI | Gain of AR and CEPX but no amplification | Trisomy 10 | Category 4
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| Case 210 | Atypical or complex fusion | Normal | Normal | Category 2
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| FISH marker | Result | Description | | |
| All | na | Data not available | | |
| TMPRSS2/ERG | Typical fusion | The fusion between 5?TMPRSS2 and 3?ERG with the interstitial region on chromosome 21 deleted | | |
| TMPRSS2/ERG | Atypical fusion | The fusion between 5?TMPRSS2 and 3?ERG with the interstitial region on chromosome 21 translocated elsewhere | | |
| TMPRSS2/ERG | Complex fusion | The coexistence of fusion with another rearrangement of either TMPRSS2 or ERG, or both, on the other allele | | |
| TMPRSS2/ERG | Rearranged 3'ERG | Separation of the 5?- and the 3?- boundaries of the ERG locus without changes in the TMPRSS2 locus | | |
| TMPRSS2/ERG | Alternative rearrangement | All other rearrangements of the TMPRSS2 and/or ERG that do not fall within the above categories | | |
| TMPRSS2/ERG | CNI | The presence of three or more copies of TMPRSS2 and ERG per nucleus without rearrangement | | |
| AR/CEPX | Gain of AR and CEPX, but no amplification | The presence of two or more AR and CEPX per nucleus | | |
| PTEN/CEP10 | Heterozygous deletion | A ratio of the total number of PTEN divided by the total number of CEP10 signals equal or below 0.75 | | |
| PTEN/CEP10 | Homozygous deletion | A ratio of the total number of PTEN divided by the total number of CEP10 signals equal or below 0.2 | | |
| PTEN/CEP10 | Monosomy 10 | The presence of one each of PTEN and CEP10 per nucleus | | |
| PTEN/CEP10 | Trisomy 10 | The presence of three or more PTEN and CEP10 per nucleus | | |
| Panel | Category 1 | Normal by all FISH tests | | |
| Panel | Category 2 | TMPRSS2:ERG fusion without PTEN deletion | | |
| Panel | Category 3 | PTEN deletion without rearrangement of TMPRSS2 or ERG | | |
| Panel | Category 4 | AR gain plus trisomy 10 | | |
| Panel | Category 5 | PTEN deletion plus ERG rearrangements, which include TMPRSS2:ERG fusion and rearrangement of 3'ERG alone | | |
| Panel | Category 6 | All remaining combinations of abnormal results | | |