Analysis of TET2 mutations in paroxysmal nocturnal hemoglobinuria (PNH)

Table 1 Summary of clinical and genetic results in a cohort of 19 patients with PNH

Pt	Age/Gender	WBC (× 10⁻³/μl)	HGB (gm/dl)	PLT (x 10⁻³/μl)	ANC (x 10⁻³/μl)	Abs.Retic (per μl)	% PNH RBC (III)	% PNH RBC (PNH II)	%PNH PMN’s	Thrombosis	History of AA	Eculizumab	Mutation 1	Mutation 2	Mutation 3	Mutation 4
1	65F	4.5	9.6	165	2.5	299,000	82	1.6	99	No	No	Yes
2	46M	3.4	10.6	35	2.2	60,800	13	2	92	Yes	Yes	Yes	I1762V	L1721W
3	50F		11.7	59	5.8		18	52	92	Yes	No	Yes
4	32M	3.7	10.5	157	2.5	88,000	26	3.8	97	Yes	No	Yes	I1762V
5	37F	3	10.8	203	0.9	208,000	94		100	No	No	Yes
6	54M	3.7	10.9	122	2.2	132,000	31		78	No	No	No	P363L	L1721W
7	48M	3.7	9.6	103	2.2	91,000	32	2	89	No	Yes	Yes	G355D	I1762V	I1762V
8	25F	2.6	8.5	74	1.3	114,000	22	2	91	No	No	Yes	I1762V	I1762V
9	47M	5.1	9.4	175	3.1	117,000	21	4	95	No	Yes	Yes	I1762V
10	48F	3	9.1	152	1.6	206,000	77		100	No	Yes	Yes
11	52M	9.5	11.5	136	8.6	180,000	24		83	No	No	No	I1762V
12	39F	5.1	9	361	1.7	247,000	91	1.5	97	No	Yes	Yes	I1762V
13	28M	4.4	11.1	132	2.1	195,000	58		88	Yes	Yes	Yes	G355D	I1762V
14	52F	7.7	9.9	321	3.5	247,000	99	1	> 99	Yes	No	Yes	P363L	Y899X	L1721W	I1762V
15	21F	3.6	12.1	132	1.6	126,000	51	5	80	No	No	No	L1721W
16	27F	2.4	7.9	123	1.5	46,000	18	20	98	Yes	Yes	Yes	Y867H	P1723S	I1762V	H1778R
17	20F	3.7	8.2	96	1.7	317,000	48		99	No	No	Yes
18	61F	4.9	9.2	239	2.2	114,000	44	12	88	No	Yes	Yes	P363L	L1721W
19	55M	2.8	10.8	95	1.8	198,000	85	3	98	Yes	Yes	Yes	L1721W	I1762V

The presence of common polymorphisms in TET2 is indicated in plain text, and the novel nonsense mutation is indicated in italics. Two patients were homozygous for the I1762V polymorphism. The JAK2^V617F mutation was not identified in any of these patients; analysis of JAK2 exon 12 was performed for patients 1–14 and patients 16–19, and no mutations were found

ISSN: 2162-3619