Compendium of Cancer Genome Aberrations

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{| class="wikitable"
 
{| class="wikitable"
 
|'''Signs and Symptoms'''
 
|'''Signs and Symptoms'''
−
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
+
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
   −
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
+
<span class="blue-text">EXAMPLE:</span> B-symptoms (weight loss, fever, night sweats)
   −
<span class="blue-text">EXAMPLE:</span> Fatigue
+
<span class="blue-text">EXAMPLE:</span> Fatigue
   −
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
+
<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)
 
|-
 
|-
 
|'''Laboratory Findings'''
 
|'''Laboratory Findings'''
−
|<span class="blue-text">EXAMPLE:</span> Cytopenias
+
|<span class="blue-text">EXAMPLE:</span> Cytopenias
   −
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
+
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
 
|}
 
|}
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!Notes
 
!Notes
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
+
|<span class="blue-text">EXAMPLE:</span> t(9;22)(q34;q11.2)||<span class="blue-text">EXAMPLE:</span> 3'ABL1 / 5'BCR||<span class="blue-text">EXAMPLE:</span> der(22)||<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
−
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
+
<span class="blue-text">EXAMPLE:</span> 30% (add reference)
 
|Yes
 
|Yes
 
|No
 
|No
 
|Yes
 
|Yes
−
|<span class="blue-text">EXAMPLE:</span>
+
|<span class="blue-text">EXAMPLE:</span>  
    
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
 
The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
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!Notes
 
!Notes
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span>
+
|<span class="blue-text">EXAMPLE:</span>  
    
7
 
7
−
|<span class="blue-text">EXAMPLE:</span> Loss
+
|<span class="blue-text">EXAMPLE:</span> Loss
−
|<span class="blue-text">EXAMPLE:</span>
+
|<span class="blue-text">EXAMPLE:</span>  
    
chr7:1- 159,335,973 [hg38]
 
chr7:1- 159,335,973 [hg38]
−
|<span class="blue-text">EXAMPLE:</span>
+
|<span class="blue-text">EXAMPLE:</span>  
    
chr7
 
chr7
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|Yes
 
|Yes
 
|No
 
|No
−
|<span class="blue-text">EXAMPLE:</span>
+
|<span class="blue-text">EXAMPLE:</span>  
    
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
 
Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span>
+
|<span class="blue-text">EXAMPLE:</span>  
    
8
 
8
−
|<span class="blue-text">EXAMPLE:</span> Gain
+
|<span class="blue-text">EXAMPLE:</span> Gain
−
|<span class="blue-text">EXAMPLE:</span>
+
|<span class="blue-text">EXAMPLE:</span>  
    
chr8:1-145,138,636 [hg38]
 
chr8:1-145,138,636 [hg38]
−
|<span class="blue-text">EXAMPLE:</span>
+
|<span class="blue-text">EXAMPLE:</span>  
    
chr8
 
chr8
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|No
 
|No
 
|No
 
|No
−
|<span class="blue-text">EXAMPLE:</span>
+
|<span class="blue-text">EXAMPLE:</span>  
    
Common recurrent secondary finding for t(8;21) (add reference).
 
Common recurrent secondary finding for t(8;21) (add reference).
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!Notes
 
!Notes
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span>
+
|<span class="blue-text">EXAMPLE:</span>  
    
Co-deletion of 1p and 18q
 
Co-deletion of 1p and 18q
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|No
 
|No
 
|No
 
|No
−
|<span class="blue-text">EXAMPLE:</span>
+
|<span class="blue-text">EXAMPLE:</span>  
    
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
 
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
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!Notes
 
!Notes
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations
+
|<span class="blue-text">EXAMPLE:</span> TP53; Variable LOF mutations
   −
<span class="blue-text">EXAMPLE:</span>
+
<span class="blue-text">EXAMPLE:</span>  
    
EGFR; Exon 20 mutations
 
EGFR; Exon 20 mutations
   −
<span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations
+
<span class="blue-text">EXAMPLE:</span> BRAF; Activating mutations
−
|<span class="blue-text">EXAMPLE:</span> TSG
+
|<span class="blue-text">EXAMPLE:</span> TSG
−
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
+
|<span class="blue-text">EXAMPLE:</span> 20% (COSMIC)
   −
<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
+
<span class="blue-text">EXAMPLE:</span> 30% (add Reference)
−
|<span class="blue-text">EXAMPLE:</span> IDH1 R123H
+
|<span class="blue-text">EXAMPLE:</span> IDH1 R123H
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|<span class="blue-text">EXAMPLE:</span> EGFR amplification
+
|<span class="blue-text">EXAMPLE:</span> EGFR amplification
 
|
 
|
 
|
 
|
 
|
 
|
−
|<span class="blue-text">EXAMPLE:</span>  Excludes hairy cell leukemia (HCL) (add reference).
+
|<span class="blue-text">EXAMPLE:</span>  Excludes hairy cell leukemia (HCL) (add reference).
 
<br />
 
<br />
 
|}
 
|}
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!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations
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|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations
−
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
+
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
−
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
+
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations
+
|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations
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|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
+
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
−
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
+
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
 
|-
 
|-
−
|<span class="blue-text">EXAMPLE:</span>  KMT2C and ARID1A; Inactivating mutations
+
|<span class="blue-text">EXAMPLE:</span>  KMT2C and ARID1A; Inactivating mutations
−
|<span class="blue-text">EXAMPLE:</span>  Histone modification, chromatin remodeling
+
|<span class="blue-text">EXAMPLE:</span>   Histone modification, chromatin remodeling
−
|<span class="blue-text">EXAMPLE:</span>  Abnormal gene expression program
+
|<span class="blue-text">EXAMPLE:</span>   Abnormal gene expression program
 
|}
 
|}
  
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