Table 4 Summary of point mutations and... | American Society of Hematology

Table 4

Summary of point mutations and recurrent chromosomal aberrations in post-MPN AML patients

Sample ID	JAK2	RUNX1	FLT3	NPM1	IDH1	IDH2	TP53	gain 1q	del 7q	del 5q	del 6p	del 7p	UPD 19q	gain 3q	UPD 22q
sample_281	V617F	wt	wt	wt	wt	wt	wt					Yes
sample_289	V617F	wt	wt	wt	wt	wt	wt					Yes
sample_304	V617F	wt	wt	wt	wt	R140W	wt
sample_373	V617F	L29S	wt	mut	wt	wt	wt
sample_374	wt	wt	wt	wt	wt	wt	wt				Yes		Yes		Yes
sample_375	wt	wt	wt	wt	wt	wt	wt
sample_381	wt	R135K/442insTGCCT_T150PfsX1	ITD	wt	wt	R140Q	wt
sample_382	wt	wt	wt	wt	wt	wt	wt
sample_383	wt	wt	wt	wt	wt	wt	wt	Yes	Yes	Yes	Yes
sample_389	V617F	wt	wt	wt	wt	wt	wt
sample_390	V617F	wt	wt	wt	wt	wt	wt	Yes
sample_391	V617F	wt	wt	wt	wt	wt	wt
sample_392	V617F	wt	D835	wt	wt	wt	c.994–2 A > G (17pUPD)			Yes	Yes
sample_393	V617F	Q235X/S373X	wt	wt	wt	wt	wt	Yes	Yes
sample_394	V617F	wt	wt	wt	wt	wt	C135S / M246K			Yes	Yes			Yes
sample_395	V617F	wt	wt	wt	wt	wt	wt
sample_396	V617F	del 21q†	wt	wt	wt	wt	wt	Yes	Yes				Yes
sample_397	V617F	wt	wt	wt	wt	wt	wt
sample_398	V617F	wt	wt	wt	wt	wt	wt
sample_399	V617F	wt	wt	wt	wt	wt	N239D (17pUPD)
sample_400	V617F	wt	wt	wt	wt	wt	c.560–1 G > A / Y220H			Yes				Yes
sample_401	V617F	wt	wt	wt	wt	wt	wt
sample_402	V617F	wt	wt	wt	wt	wt	K132E						Yes
sample_403	V617F	wt	wt	wt	wt	wt	S261T / N239D								Yes
sample_404	V617F	wt	D835	wt	wt	wt	wt								Yes
sample_405	V617F	wt	wt	wt	wt	wt	wt
sample_406	V617F	wt	wt	wt	wt	wt	wt		Yes					Yes
sample_407	V617F	wt	wt	wt	R132G	wt	wt		Yes*			Yes*
sample_408	wt	wt	wt	wt	wt	wt	wt	Yes

Sample ID	JAK2	RUNX1	FLT3	NPM1	IDH1	IDH2	TP53	gain 1q	del 7q	del 5q	del 6p	del 7p	UPD 19q	gain 3q	UPD 22q
sample_281	V617F	wt	wt	wt	wt	wt	wt					Yes
sample_289	V617F	wt	wt	wt	wt	wt	wt					Yes
sample_304	V617F	wt	wt	wt	wt	R140W	wt
sample_373	V617F	L29S	wt	mut	wt	wt	wt
sample_374	wt	wt	wt	wt	wt	wt	wt				Yes		Yes		Yes
sample_375	wt	wt	wt	wt	wt	wt	wt
sample_381	wt	R135K/442insTGCCT_T150PfsX1	ITD	wt	wt	R140Q	wt
sample_382	wt	wt	wt	wt	wt	wt	wt
sample_383	wt	wt	wt	wt	wt	wt	wt	Yes	Yes	Yes	Yes
sample_389	V617F	wt	wt	wt	wt	wt	wt
sample_390	V617F	wt	wt	wt	wt	wt	wt	Yes
sample_391	V617F	wt	wt	wt	wt	wt	wt
sample_392	V617F	wt	D835	wt	wt	wt	c.994–2 A > G (17pUPD)			Yes	Yes
sample_393	V617F	Q235X/S373X	wt	wt	wt	wt	wt	Yes	Yes
sample_394	V617F	wt	wt	wt	wt	wt	C135S / M246K			Yes	Yes			Yes
sample_395	V617F	wt	wt	wt	wt	wt	wt
sample_396	V617F	del 21q†	wt	wt	wt	wt	wt	Yes	Yes				Yes
sample_397	V617F	wt	wt	wt	wt	wt	wt
sample_398	V617F	wt	wt	wt	wt	wt	wt
sample_399	V617F	wt	wt	wt	wt	wt	N239D (17pUPD)
sample_400	V617F	wt	wt	wt	wt	wt	c.560–1 G > A / Y220H			Yes				Yes
sample_401	V617F	wt	wt	wt	wt	wt	wt
sample_402	V617F	wt	wt	wt	wt	wt	K132E						Yes
sample_403	V617F	wt	wt	wt	wt	wt	S261T / N239D								Yes
sample_404	V617F	wt	D835	wt	wt	wt	wt								Yes
sample_405	V617F	wt	wt	wt	wt	wt	wt
sample_406	V617F	wt	wt	wt	wt	wt	wt		Yes					Yes
sample_407	V617F	wt	wt	wt	R132G	wt	wt		Yes*			Yes*
sample_408	wt	wt	wt	wt	wt	wt	wt	Yes

wt indicates wild-type; mut, mutant; ITD, internal tandem duplication; and del, deletion.

Monosomy 7.

Single-gene deletion of RUNX1.