Table 1 Genetic variations in PRC2... | American Society of Hematology

Table 1

Genetic variations in PRC2 components

UPN	Disease	DNA variation	Protein variation	Hetero-/homozygous	Acquired/inherited
*SUZ12*
MDS-3	MDS-RAEBt	c.211G > A	p.V71M	Heterozygous	N/A
MDS-14	MDS-RA	c.211G > A	p.V71M	Heterozygous	Inherited
MDS-121	MDS-RAEB	c.196G > A	p.A66T	Heterozygous	Inherited
PV-20	PV	c.211G > A	p.V71M	Heterozygous	Inherited
PV-31	PV	c.211G > A	p.V71M	Heterozygous	N/A
PMF-3	PMF	c.66A > C	p.G22G	Heterozygous	N/A
CMML-13	CMML-1	c.1220C > T	p.T407I	Heterozygous	N/A
CMML-36	CMML-1	c.211G > A	p.V71M	Heterozygous	N/A
CMML-40	CMML-2	c.1569A > T	p.T523T	Heterozygous	N/A
MDS/MPN-U-19	MDS/MPN-U	c.98C > T	p.A33V	Heterozygous	N/A
*EED*
MDS-41	MDS-RA	c.363T > C	p.V121V	Heterozygous	N/A
MDS-45	MDS-RAEB	c.1030C > T	p.R344C*	Heterozygous	Inherited
PV-11	PV	c.12G > A	p.R4R	Heterozygous	N/A
CMML-60	CMML-2	c.374A > T	p.E125V	Heterozygous	N/A
*EZH1*
–	–	–	–	–	–
*JARID2*
MDS-27	MDS-RARS	c.3504C > T	p.H1168H	Heterozygous	N/A
MDS-28	MDS-RAEB	c.1474C > T	p.R492C	Heterozygous	N/A
MDS-50	MDS-RA	c.1474C > T	p.R492C	Heterozygous	Inherited
MDS-50	MDS-RA	c.3504C > T	p.H1168H	Heterozygous	N/A
MDS-55	MDS-RA	c.3504C > T	p.H1168H	Heterozygous	N/A
MDS-86	MDS-RA	c.1674C > T	p.P558P	Heterozygous	N/A

UPN	Disease	DNA variation	Protein variation	Hetero-/homozygous	Acquired/inherited
*SUZ12*
MDS-3	MDS-RAEBt	c.211G > A	p.V71M	Heterozygous	N/A
MDS-14	MDS-RA	c.211G > A	p.V71M	Heterozygous	Inherited
MDS-121	MDS-RAEB	c.196G > A	p.A66T	Heterozygous	Inherited
PV-20	PV	c.211G > A	p.V71M	Heterozygous	Inherited
PV-31	PV	c.211G > A	p.V71M	Heterozygous	N/A
PMF-3	PMF	c.66A > C	p.G22G	Heterozygous	N/A
CMML-13	CMML-1	c.1220C > T	p.T407I	Heterozygous	N/A
CMML-36	CMML-1	c.211G > A	p.V71M	Heterozygous	N/A
CMML-40	CMML-2	c.1569A > T	p.T523T	Heterozygous	N/A
MDS/MPN-U-19	MDS/MPN-U	c.98C > T	p.A33V	Heterozygous	N/A
*EED*
MDS-41	MDS-RA	c.363T > C	p.V121V	Heterozygous	N/A
MDS-45	MDS-RAEB	c.1030C > T	p.R344C*	Heterozygous	Inherited
PV-11	PV	c.12G > A	p.R4R	Heterozygous	N/A
CMML-60	CMML-2	c.374A > T	p.E125V	Heterozygous	N/A
*EZH1*
–	–	–	–	–	–
*JARID2*
MDS-27	MDS-RARS	c.3504C > T	p.H1168H	Heterozygous	N/A
MDS-28	MDS-RAEB	c.1474C > T	p.R492C	Heterozygous	N/A
MDS-50	MDS-RA	c.1474C > T	p.R492C	Heterozygous	Inherited
MDS-50	MDS-RA	c.3504C > T	p.H1168H	Heterozygous	N/A
MDS-55	MDS-RA	c.3504C > T	p.H1168H	Heterozygous	N/A
MDS-86	MDS-RA	c.1674C > T	p.P558P	Heterozygous	N/A

None of the MDS patients with a genetic variation in SUZ12, EED or JARID2 carried a mutation in EZH2. For the PV, PMF, CMML and MDS/MPN-U patients the EZH2 status was not determined.

UPN indicates unique patient number; RAEBt, refractory anemia with excess blasts in transformation; RA, refractory anemia; RAEB, refractory anemia with excess blasts; RARS, refractory anemia with ringed sideroblasts; and N/A, not analyzed due to a lack of available T cells or because of a silent variation.

Variation detected in an exon which is only present in EED isoform ENST00000351625.

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