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

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

Gene	Variant	COSMIC v92 FATHMM prediction	Variant Allele Frequency
Gene	Variant	COSMIC v92 FATHMM prediction	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)

ISSN: 2050-7771