Table 1.

Comparison of molecular findings in the patient’s marrow samples obtained at the time of myelodysplastic syndrome with excess blasts-1 (MDS-EB1) and acute myeloid leukemia with myelodysplasia-related changes (AML-MRC).

Mutational Profiling	Variant Allele Frequencies (VAF %)
	MDS-EB1 Marrow (May 2017)	AML-MRC Marrow (Sept 2018)
ASXL1 c.1900_1922del (p.E635Rfs*15)	14.4%	19.8%
KMT2D c.10505_10506insTTTACCC (p.N3503Lfs*4)	5.5%	7.6%
RUNX1 c.497G>A (p.R166Q)	5.8%	17.5%
SF3B1 c.1774G>A (p.E592K)	25.6%	18.9%
TET2 c.4138C>T (p.H1380Y)	8.3%	17.1%
SETD1B c. 2502G>A (p.W834*)	7.7%	<1.0%
PHF6 c.673C>T (p.R225*)	0.0%	20.2%
RAD21 c.371_372insTGAGGGCGGA (p.L124Ffs*6)	0.0%	5.7%
XBP1 exon 1 deletion	Not present	Present (VAF not available)