Table 1.

Clinical and pathologic features of patients with RARS-T.

Patient No.	Age	Plt. Count, (× 10^∧9/L)	Fibrosis	WBC (× 10∧9/L)	Splenomegaly	TET2	ASXL1	JAK2 V617F	MPL W515L	pSTAT5	Cytogenetics	SNP-A karyotyping
												Gain	Loss	UPD
												1^*†‡	78	277^§	2+	19.5	N	-	-	-	+	+	46,XY[20]	-	-	-
2^*†	73	664	2+	10.14	Y	delC 1480Sfs	NA	-	-	+	46,XY[20]	-	-	-
3^†	79	660	4+	23.84	Y	-	-	+	+	+	46,XX,inv(9)(p11;q12)[20]	-	2p16.2; 22q11.23	1p11.2p-ter
4^†	76	587	1+	28.06	Y	-	-	+	-	+	46,XY[20]	-	-	9p13.1-pter
5^†	71	766	4+	26.2	Y	-	L1395V	-	-	+	46,XY[20]	-	-	-
6^†	57	600	4+	37.09	Y	-	-	+	-	+	46,XX[20]	- ^#	- ^#	- ^#
7^†	78	894	2+	3.81	N	-	-	+	-	+	46,XX[20]	-	-	-
8^†	58	771	0	9.99	N	-	-	-	-	+	46,XX[20]	-	-	-
9^†	87	625	2+	15.4	Y	-	-	-	+	+	46,XY[20]	-	-	1p13.3-pter 2p12-pter 6p21.2-p22.1 6p16.3-q22.33 8p21.3-q24.13 10p13-p14
10^†	78	483	NA	22.48	N	-	-	-	-	+	46, XY,inv(3)(q21;q26.2)[20]	11p25	-	-
11^*†‡	61	329^π	2+	90.34	Y	-	-	+	-	+	46,XY[20]	-	-	-
12^*†	85	598	1+/2+	21.8	N	-	NA	+	-	+	46,XX[20]	7q21.2	-	-
13^†	71	496	0	4.14	N	-	NA	+	-	NA	5q-	20q13.12	-	1p32-pter
14^*†	72	512	0	8.1	N	-	-	+	-	NA	45,X,inv(10)(q21.2;q24.3)[3] 46,XX,inv(10)(q21.2;q24.3)[17]	-	-	-
15^†	66	773	NA	5.39	N	-	-	-	-	-	45,X,-X[4]/46,XX[16]	2p11.23	Xq25	-
16^†	69	616	2+	4.26	Y	NA	-	-	-	-	46,XY,del(5)(q22;q33)[20]	-	5q21.1q31.3	1p35.1-pter
17^†	63	611	0	4.99	N	-	-	-	-	-	46,XX[20]	21q22.3	-	-
18^†‡	73	667	2+	33.46	N	V1718L	-	-	-	-	47,XX,+8[20]	8	-	-
19	83	469	NA	4.6	N	-	Q1102D	-	-	NA	46,XX[20]	NA	NA	NA
20	63	614	NA	14.36	Y	-	-	-	-	-	46,XX[20]	-	-	2p22.3-pter 3q21.3qter
21	61	457	0	5.79	N	-	-	-	-	-	46,XX,add(15)(p11.1),add(22)(p11.2)[3]/47,idem, +19 [19]	+19	-	-
22	83	636	1+	5.30	N	-	-	-	-	-	46,XY[20]	-	-	-
23	80	761	0	8.27	N	-	-	-	-	NA	46,XX[20]	-	-	3q21.3qter

^*,†,‡

Patients were part of a previous series where mutation analysis was confined to JAK2 V617F/MPL W515L mutations and pSTAT5 analysis [1,11,15]; NA - not available;

^§

documented history of thrombocytosis over previous 6 months (to 1353×10⁹/l);

^π

documented history of thrombocytosis over previous 6 months (546–1213×10⁹/l);

used 50K array.