J Clin Med Res

Journal of Clinical Medicine Research, ISSN 1918-3003 print, 1918-3011 online, Open Access

Article copyright, the authors; Journal compilation copyright, J Clin Med Res and Elmer Press Inc

Journal website http://www.jocmr.org

Original Article

Volume 7, Number 3, March 2015, pages 161-170

The Burden of JAK2V617F Mutated Allele in Turkish Patients With Myeloproliferative Neoplasms

Figure 1. Distribution of ET (n = 107) and PMF (n = 77) patients in quartiles according to the JAK2V617F allele burden. The prevalences of JAK2 wild-type in ET and PMF patients were 40.2% and 24.7%, respectively. The frequency of JAK2V617F-positive patients with mutant allele burden in upper half (allele burden > 50%) was higher in PMF compared to ET (23.4% and 4.7%, respectively; P = 0.001).

**Table 1.** Clinical and Laboratory Features of Patients With ET According to JAK2V617F Allele Burden Data
ET	JAK2 wild-type, mean (SD)	Low JAK2 allele burden (≤ 50%), mean (SD)	High JAK2 allele burden (> 50%), mean (SD)	P value
Number of patients	43	59	5	-
Age at diagnosis (years)	51.7 (15.7)	49.4 (14.6)	53.2 (19)	0.732
Females (%)	20 (46.5%)	34 (57.6%)	4 (80%)	0.267
Leukocyte at diagnosis (mm³)	9.593 (3.434)	9.853 (3.663)	14.240 (7.279)	0.263
Hgb at diagnosis (g/dL)	12.4 (1.9)	13.8 (1.7)	11.1 (0.9)	0.001
Hct at diagnosis (%)	36.8 (5.21)	41.2 (5.15)	34.8 (4.76)	0.001
Platelet count at diagnosis (mm³)	1.055.116 (495.928)	881.238 (323.317)	798.600 (312.966)	0.123
LDH at diagnosis (U/L)	462 (159.7)	430.7 (125.2)	718 (178.6)	0.012
Spleen size at diagnosis (mm)	132.07 (23.86)	138.3 (31.4)	181 (74)	0.123
Follow-up duration (months)	70.1 (56.9)	69.76 (62.9)	69.2 (80.7)	0.887

Table 1. Clinical and Laboratory Features of Patients With ET According to JAK2V617F Allele Burden Data

JAK2 wild-type, mean (SD)

Low JAK2 allele burden (≤ 50%), mean (SD)

High JAK2 allele burden (> 50%), mean (SD)

P value

Number of patients

Age at diagnosis (years)

51.7 (15.7)

49.4 (14.6)

53.2 (19)

0.732

Females (%)

20 (46.5%)

34 (57.6%)

4 (80%)

0.267

Leukocyte at diagnosis (mm³)

9.593 (3.434)

9.853 (3.663)

14.240 (7.279)

0.263

Hgb at diagnosis (g/dL)

12.4 (1.9)

13.8 (1.7)

11.1 (0.9)

0.001

Hct at diagnosis (%)

36.8 (5.21)

41.2 (5.15)

34.8 (4.76)

0.001

Platelet count at diagnosis (mm³)

1.055.116 (495.928)

881.238 (323.317)

798.600 (312.966)

0.123

LDH at diagnosis (U/L)

462 (159.7)

430.7 (125.2)

718 (178.6)

0.012

Spleen size at diagnosis (mm)

132.07 (23.86)

138.3 (31.4)

181 (74)

0.123

Follow-up duration (months)

70.1 (56.9)

69.76 (62.9)

69.2 (80.7)

0.887

**Table 2.** Clinical and Laboratory Features of Patients With ET According to JAK2V617F Allele Burden Data (Continued)
ET	JAK2 wild-type, n (%)	Low JAK2 allele burden (≤ 50%), n (%)	High JAK2 allele burden (> 50%), n (%)	P value
Number of patients	43	59	5	-
Risk factors for cardiovascular diseases	27 (62.8%)	44 (74.6%)	5 (100%)	0.148
Splenomegaly group	43 (100%)	59 (100%)	5 (100%)	0.015
No splenomegaly	33 (76.8%)	33 (56%)	1 (20%)	-
Mild splenomegaly	5 (11.6%)	16 (27.1%)	1 (20%)	-
Massive splenomegaly	5 (11.6%)	10 (16.9%)	3 (60%)	-
Bleeding	3 (7%)	7 (11.9%)	3 (60%)	0.003
Need for red blood cell transfusion	4 (9.3%)	0	1 (20%)	0.022
Need for phlebotomy	1 (2.3%)	4 (6.8%)	0	0.5
Hydroxyurea	35 (81.4%)	52 (88.1%)	5 (100%)	0.408
History of splenectomy	1 (2.3%)	1 (1.7%)	0	0.926
ASA	41 (95.3%)	48 (81.4%)	4 (80%)	0.105
Thrombosis	15 (34.9%)	24 (40.7%)	2 (40%)	0.835
Thrombosis group	43 (100%)	59 (100%)	5 (100%)	0.377
No thrombosis	28 (65.1%)	35 (59.4%)	3 (60%)	-
Arterial	10 (23.3%)	11 (18.6%)	0	-
Venous	4 (9.3%)	12 (20.3%)	2 (40%)	-
Arterial and venous	1 (2.3%)	1 (1.7%)	0	-
Death	2 (4.7%)	2 (3.4%)	1 (20%)	0.24

Table 2. Clinical and Laboratory Features of Patients With ET According to JAK2V617F Allele Burden Data (Continued)

JAK2 wild-type, n (%)

Low JAK2 allele burden (≤ 50%), n (%)

High JAK2 allele burden (> 50%), n (%)

P value

Number of patients

Risk factors for cardiovascular diseases

27 (62.8%)

44 (74.6%)

5 (100%)

0.148

Splenomegaly group

43 (100%)

59 (100%)

5 (100%)

0.015

No splenomegaly

33 (76.8%)

33 (56%)

1 (20%)

Mild splenomegaly

5 (11.6%)

16 (27.1%)

1 (20%)

Massive splenomegaly

5 (11.6%)

10 (16.9%)

3 (60%)

Bleeding

3 (7%)

7 (11.9%)

3 (60%)

0.003

Need for red blood cell transfusion

4 (9.3%)

1 (20%)

0.022

Need for phlebotomy

1 (2.3%)

4 (6.8%)

0.5

Hydroxyurea

35 (81.4%)

52 (88.1%)

5 (100%)

0.408

History of splenectomy

1 (2.3%)

1 (1.7%)

0.926

ASA

41 (95.3%)

48 (81.4%)

4 (80%)

0.105

Thrombosis

15 (34.9%)

24 (40.7%)

2 (40%)

0.835

Thrombosis group

43 (100%)

59 (100%)

5 (100%)

0.377

No thrombosis

28 (65.1%)

35 (59.4%)

3 (60%)

Arterial

10 (23.3%)

11 (18.6%)

Venous

4 (9.3%)

12 (20.3%)

2 (40%)

Arterial and venous

1 (2.3%)

1 (1.7%)

Death

2 (4.7%)

2 (3.4%)

1 (20%)

0.24

**Table 3.** Clinical and Laboratory Parameters of PMF Patients Divided by JAK2V617F Allele Burden Data
PMF	JAK2 wild-type, mean (SD)	Low JAK2 allele burden (≤ 50%), mean (SD)	High JAK2 allele burden (> 50%), mean (SD)	P value
Number of patients	19	40	18	-
Age at diagnosis (years)	52.8 (16)	56.7 (15.2)	61.2 (9.5)	0.192
Females (%)	16 (84.2%)	19 (47.5%)	8 (44.4%)	0.011
Leukocyte at diagnosis (mm³)	9.726 (7.875)	11.597 (9.018)	26.216 (19.374)	0.001
Hgb at diagnosis (g/dL)	9.4 (1.3)	10.7 (2.3)	11.76 (1.9)	0.003
Hct at diagnosis (%)	29.4 (4.81)	31.8 (7.71)	35.5 (6.1)	0.021
Platelet count at diagnosis (mm³)	464.526 (396.324)	377.302 (341.495)	526.777 (367.513)	0.184
LDH at diagnosis (U/L)	782 (364.5)	808 (350)	921 (508.7)	0.855
Spleen size at diagnosis (mm)	183.7 (37.3)	196.9 (42.8)	213.8 (46.3)	0.22
Follow-up duration (months)	56.6 (48.7)	42.8 (52.1)	40.1 (33.9)	0.359

Table 3. Clinical and Laboratory Parameters of PMF Patients Divided by JAK2V617F Allele Burden Data

PMF

JAK2 wild-type, mean (SD)

Low JAK2 allele burden (≤ 50%), mean (SD)

High JAK2 allele burden (> 50%), mean (SD)

P value

Number of patients

Age at diagnosis (years)

52.8 (16)

56.7 (15.2)

61.2 (9.5)

0.192

Females (%)

16 (84.2%)

19 (47.5%)

8 (44.4%)

0.011

Leukocyte at diagnosis (mm³)

9.726 (7.875)

11.597 (9.018)

26.216 (19.374)

0.001

Hgb at diagnosis (g/dL)

9.4 (1.3)

10.7 (2.3)

11.76 (1.9)

0.003

Hct at diagnosis (%)

29.4 (4.81)

31.8 (7.71)

35.5 (6.1)

0.021

Platelet count at diagnosis (mm³)

464.526 (396.324)

377.302 (341.495)

526.777 (367.513)

0.184

LDH at diagnosis (U/L)

782 (364.5)

808 (350)

921 (508.7)

0.855

Spleen size at diagnosis (mm)

183.7 (37.3)

196.9 (42.8)

213.8 (46.3)

0.22

Follow-up duration (months)

56.6 (48.7)

42.8 (52.1)

40.1 (33.9)

0.359

**Table 4.** Clinical and Laboratory Parameters of PMF Patients Divided by JAK2V617F Allele Burden Data (Continued)
PMF	JAK2 wild-type, n (%)	Low JAK2 allele burden (≤ 50%), n (%)	High JAK2 allele burden (> 50%), n (%)	P value
Number of patients	19	40	18	-
Risk factors for cardiovascular diseases	10 (52.6%)	25 (62.5%)	11 (61.1%)	0.763
Splenomegaly group	19 (100%)	40 (100%)	18 (100%)	0.115
No splenomegaly	1 (5.3%)	0	0	-
Mild splenomegaly	6 (31.6%)	10 (25%)	1 (5.6%)	-
Massive splenomegaly	12 (63.2%)	30 (75%)	17 (94.4%)	-
Bleeding	1 (5.3%)	11 (27.5%)	3 (16.7%)	0.124
Need for red blood cell transfusion	3 (15.8%)	16 (40%)	2 (11.1%)	0.032
Need for phlebotomy	0	0	1 (5.6%)	0.19
Hydroxyurea	18 (94.7%)	36 (90%)	18 (100%)	0.349
History of splenectomy	1 (5.3%)	3 (7.5%)	0	0.492
ASA	13 (68.4%)	20 (50%)	14 (77.8%)	0.1
AHSCT	1 (5.3%)	2 (5%)	0	0.62
Karyotype	19 (100%)	40 (100%)	18 (100%)	0.572
Normal	18 (94.7%)	34 (85%)	15 (83.3%)	-
Favorable	0	5 (12.5%)	2 (11.1%)	-
Unfavorable	1 (5.3%)	1 (2.5%)	1 (5.6%)	-
DIPSS-plus	19 (100%)	40 (100%)	18 (100%)	0.076
Low risk	4 (21%)	7 (17.5%)	4 (22.2%)	-
Intermediate-1	5 (26.3%)	13 (32.5%)	9 (50%)	-
Intermediate-2	10 (52.6%)	12 (30%)	5 (27.8%)	-
High risk	0	8 (20%)	0	-
Thrombosis	3 (15.8%)	6 (15%)	2 (11.1%)	0.905
Thrombosis group	19 (100%)	40 (100%)	18 (100%)	0.483
No thrombosis	16 (84.2%)	34 (85%)	16 (88.9%)	-
Arterial	3 (15.8%)	2 (5%)	2 (11.1%)	-
Venous	0	3 (7.5%)	0	-
Arterial and venous	0	1 (2.5%)	0	-
Leukemic transformation	1 (5.3%)	2 (5%)	1 (5.6%)	0.996
Death	3 (15.8%)	8 (20%)	3 (16.7%)	0.909

Table 4. Clinical and Laboratory Parameters of PMF Patients Divided by JAK2V617F Allele Burden Data (Continued)

PMF

JAK2 wild-type, n (%)

Low JAK2 allele burden (≤ 50%), n (%)

High JAK2 allele burden (> 50%), n (%)

P value

Number of patients

Risk factors for cardiovascular diseases

10 (52.6%)

25 (62.5%)

11 (61.1%)

0.763

Splenomegaly group

19 (100%)

40 (100%)

18 (100%)

0.115

No splenomegaly

1 (5.3%)

Mild splenomegaly

6 (31.6%)

10 (25%)

1 (5.6%)

Massive splenomegaly

12 (63.2%)

30 (75%)

17 (94.4%)

Bleeding

1 (5.3%)

11 (27.5%)

3 (16.7%)

0.124

Need for red blood cell transfusion

3 (15.8%)

16 (40%)

2 (11.1%)

0.032

Need for phlebotomy

1 (5.6%)

0.19

Hydroxyurea

18 (94.7%)

36 (90%)

18 (100%)

0.349

History of splenectomy

1 (5.3%)

3 (7.5%)

0.492

ASA

13 (68.4%)

20 (50%)

14 (77.8%)

0.1

AHSCT

1 (5.3%)

2 (5%)

0.62

Karyotype

19 (100%)

40 (100%)

18 (100%)

0.572

Normal

18 (94.7%)

34 (85%)

15 (83.3%)

Favorable

5 (12.5%)

2 (11.1%)

Unfavorable

1 (5.3%)

1 (2.5%)

1 (5.6%)

DIPSS-plus

19 (100%)

40 (100%)

18 (100%)

0.076

Low risk

4 (21%)

7 (17.5%)

4 (22.2%)

Intermediate-1

5 (26.3%)

13 (32.5%)

9 (50%)

Intermediate-2

10 (52.6%)

12 (30%)

5 (27.8%)

High risk

8 (20%)

Thrombosis

3 (15.8%)

6 (15%)

2 (11.1%)

0.905

Thrombosis group

19 (100%)

40 (100%)

18 (100%)

0.483

No thrombosis

16 (84.2%)

34 (85%)

16 (88.9%)

Arterial

3 (15.8%)

2 (5%)

2 (11.1%)

Venous

3 (7.5%)

Arterial and venous

1 (2.5%)

Leukemic transformation

1 (5.3%)

2 (5%)

1 (5.6%)

0.996

Death

3 (15.8%)

8 (20%)

3 (16.7%)

0.909