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Table 2 Variant allele frequencies and BCR-ABL transcript levels 3 years apart for predicted pathogenic mutations. Outgrowth of a CSF3R-mutant clone during treatment with BCR-ABL1 tyrosine kinase inhibitors drives disease evolution from CML to CNL

From: Outgrowth of a CSF3R-mutant clone drives a second myeloproliferative neoplasm in a chronic myeloid leukemia patient: a case report

Gene Variant COSMIC v92
FATHMM prediction
Variant Allele Frequency
69 weeks 116 weeks 225 weeks
KMT2C/MLL3 S1860C Pathogenic (score 0.90) 50.62   48.92
CSF3R T618I Pathogenic (score 0.96) 11.58   41.09
CSF3R W818* Pathogenic (score 0.83) 10.22   40.26
TET2 R1167K Pathogenic (score 0.99) 2.86   
ABL1 E255V (not annotated) 2.01 Not detected (targeted PCR)  
ABL1 T3151 (not annotated)   Detected (targeted PCR)  
BCR-ABL1    2.50% (IS) 0.508% (IS) 0.000% (IS)