Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients

Figures & data

Figure 1. The distribution of JAK2 V617F, MPL W515L/K, and CALR exon 9 frameshift mutations in 58 ET patients.

Figure 2. The comparison of patient’s clinical data with JAK2 V617F mutation status in ET.

Figure 3. The comparison of patient’s clinical data with CALR exon 9 mutation status in ET.

Table 1. JAK2 V617F mutation status and patient characteristics in ET.

Variable	JAK2 V617F Negative (n = 17)	JAK2 V617F Positive (n = 41)	P-value
Median age, year (range)	68 (25–86)	69 (22–89)	0.824
Sex
Male, n (%)	7 (41)	17 (41)	0.984
Female, n (%)	10 (59)	24 (59)
Hemoglobin, g/dl, median (range)	12.1 (6.1–16.2)	12.8 (7.1–15.5)	0.103
Hct, %, median (range)	35.6 (21.3–48.7)	40.1 (22.5–46.6)	0.084
WBC × 10^3/µl, median (range)	8.2 (3.8–20.2)	10.5 (4.9–35.8)	0.141
Platelets × 10^3/µl, median (range)	620 (162–1107)	769 (420–1673)	0.118

Table 2. CALR exon 9 frameshift mutation and patient characteristics in ET.

Variable	CALR Negative (n = 50)	CALR Positive (n = 8)	P-value
Median age, year (range)	63.5 (22–89)	75.5 (68–86)	0.023
Sex
Male, n (%)	22 (44)	2 (25)	0.315
Female, n (%)	28 (56)	6 (75)
Hemoglobin, g/dl, median (range)	12.7 (6.1–16.2)	10 (9.0–13.4)	0.015
Hct, %, median (range)	39.4 (21.3–48.7)	30.8 (26.9–41.3)	0.008
WBC × 10^3/µl, median (range)	10.4 (4.9–35.8)	7.2 (3.8–14.0)	0.047
Platelets  × 10^3/µl, median (range)	776 (162–1673)	577 (511–843)	0.041

Figure 4. Sequencing chromatogram of CALR-type 1 (52 bp deletion, c.1092_1143del; p.L367fs*46) mutation.

Figure 5. Sequencing chromatogram of CALR-type 2 (5 bp insertion, c.1154_1155 ins TTGTC; p.K385fs*47) mutation.

Table 3. The distribution of CALR exon 9 frameshift mutations in ET from different publications.

Study	ET/sample scale (%)	Population
This study	8/58 (14%)	Southeast Asia (Thailand)
Kim et al. [25]	14/79 (18%)	East Asia (Korea)
Li et al. [6]	124/614 (20%)	East Asia (Mainland China)
Rotunno et al. [17]	89/576 (15%)	Europe (Italy)
Wojtaszewska et al. [28]	15/117 (13%)	Europe (Poland)
Tefferi et al. [14]	114/402 (28%)	North America (United State)
Nunes et al. [29]	3/23 (13%)	South America (Brazil)
Labastida-Mercado et al. [30]	4/14 (29%)	South America (Mexico)

Kim SY, Im K, Park SN, et al. CALR, JAK2, and MPL mutation profiles in patients with four different subtypes of myeloproliferative neoplasms: primary myelofibrosis, essential thrombocythemia, polycythemia vera, and myeloproliferative neoplasm, unclassifiable. Am J Clin Pathol. 2015;143:635–644. doi: 10.1309/AJCPUAAC16LIWZMM

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