Table 1.
Major characteristics of the included studies.
| No | Study ID [References] |
Study Design |
Country | Type of MPN | Total Number of MPN Patients (Female) | Age (Years) [Mean ± SD/Median (IQR)/Range] | Haemoglobin (g/dL) [Mean ± SD/Median (IQR)/Range] |
Leucocyte Count (109/L) [Mean ± SD/Range/Median (IQR)] |
Platelet Count (109/L) [Mean ± SD/Range/Median (IQR)] |
Total Number of Mutated ASXL1 (%) | Screening Method for TET2 Gene Mutations | Diagnostic Criteria |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Andreasson 2020 [20] |
Cross-sectional | Sweden | PV | 85 (41) | 71.0 (37.0–94.0) |
NR | NR | NR | 8.2 | NGS | 2008 WHO |
| 2 | Barraco 2017 [21] |
Cross-sectional | USA | PV | 267 (125) | 64.0 (17.0–94.0) |
18.0 (14.8–24.3) |
11.5 (4.3–59.3) |
439.0 (37.0–2747.0) |
8.1 | NR | 2016 WHO |
| 3 | Bartels 2019 [22] |
Case–control | Germany | MF | 104 (53) | NR | NR | NR | NR | 9.6 | NGS | 2016 WHO |
| 4 | Brecqueville 2012 [23] |
Cross-sectional | France | PV, ET & MF | 127 (57) | NR (29.0–97.0) |
NR | NR | NR | 11.0 | SS | 2008 WHO |
| 5 | Brecqueville 2014 [24] |
Cross-sectional | France | MF | 68 (NR) | 69.0 (30.0–86.0) |
11.4 (5.8–17.8) |
8.9 (1.3–120.0) |
256.0 (5.0–1188.0) |
26.5 | SS | 2008 WHO |
| 6 | Carbuccia 2009 [25] |
Cross-sectional | France | PV, ET & MF | NR | NR | NR | NR | NR | 7.3 | SS | NR |
| 7 | Cerquozzi 2017 [26] |
Cross-sectional | USA | PV | 587 (302) | 60.0 (17.0–94.0) |
NR | NR | 476.0 (41.0–2747.0) |
10.5 | NGS | 2016 WHO, ELN |
| 8 | Delhommeau 2009 [11] |
Cross-sectional | France | PV, ET & MF | 203 (41) | NR | NR | NR | NR | NR | SS, SNP array, CGH | 2001 WHO |
| 9 | Delic 2016 [27] |
Cross-sectional | Germany | PV, ET & MF | 100 (NR) | 69.0 (28.0–87.0) |
NR | NR | NR | 21.0 | NGS | 2008 WHO |
| 10 | Gill 2018 [28] |
Cross-sectional | China | MF | 101 (39) | 60.0 (26.0–89.0) |
10.3 (3.0–18.5) |
12.1 (1.5–177.4) |
344.0 (19.0–1720.0) |
30.7 | NGS | 2016 WHO, IWG-MRT |
| 11 | Guglielmelli 2011 [29] |
Cross-sectional | Italy | MF | 518 (303) | NR | NR | NR | NR | 22.2 | HRM | 2008 WHO, IWG-MRT |
| 12 | Ha 2014 [14] |
Cross-sectional | Korea | PV, ET & MF | 99 (50) | 63.7 ± 13.0 | 13.7 ± 3.8 | 16.5 ± 15.4 | 825.4 ± 490.0 | NR | SS, SNP array, CGH | 2008 WHO |
| 13 | Huang 2020 [30] |
Cross-sectional | China | PV, ET & MF | 65 (32) | 62.0 (NR) | NR | NR | NR | 10.8 | NGS | 2016 WHO |
| 14 | Hussein 2010 [31] |
Cross-sectional | USA | PV, ET & MF | 199 (96) | 58.0 (19.0–93.0) |
NR | NR | NR | NR | NGS | 2001 WHO |
| 15 | Kröger 2017 [32] |
Cross-sectional | Germany | MF | 169 (73) | 58.0 (18.0–75.0) |
NR | NR | NR | 29.0 | SS | NR |
| 16 | Leibundgut 2020 [33] |
Cross-sectional | Switzerland | ET | 18 (10) | 59.5 (21.0–83.0) |
NR | 7.8 (3.0–14.6) |
788.0 (521.0–1359.0) |
11.1 | NGS | 2016 WHO |
| 17 | Magor 2016 [34] |
Cross-sectional | Australia | PV, ET & MF | 43 (16) | 61.0 (24.0–91.0) |
NR | NR | NR | 9.3 | Targeted exon resequencing | 2008 WHO |
| 18 | Martínez-Avilés 2012 [35] |
Cross-sectional | Spain | PV, ET & MF | 62 (43) | NR | NR | NR | NR | 4.8 | HRM, SS | 2008 WHO |
| 19 | Nielsen 2017 [36] |
Case–control | Denmark | MF | 16 (3) | 66.0 (52.0–80.0) |
10.3 (7.9–13.4) |
5.9 (2.3–64.4) |
155.5 (56.0–357.0) |
50.0 | PCR-DGGE | NR |
| 20 | Nischal 2013 [37] |
Cross-sectional | USA | PV, ET & MF | 25 (14) | 68.0 (54.0–72.0) |
NR | NR | NR | 24.0 | SS | NR |
| 21 | O’Sullivan 2019 [38] |
Cross-sectional | UK | ET | NR | NR | NR | NR | NR | NR | NGS | NR |
| 22 | Pardanani 2010 [39] |
Cross-sectional | USA | PV, ET & MF | 78 (34) | 64.0 (22.0–95.0) |
NR | NR | NR | NR | NGS | 2008 WHO |
| 23 | Patel 2015 [40] |
Cross-sectional | USA | MF | 95 (44) | 66.0 (40.0–84.0) |
10.7 (7.2–16.9) |
25.0 (2.5–159.0) |
339.0 (13.0–969.0) |
21.1 | NGS | IWG-MRT |
| 24 | Patriarca 2013 [41] |
Cross-sectional | Italy | PV, ET & MF | 97 (44) | NR | NR | NR | NR | NR | NGS | 2008 WHO |
| 25 | Saint-Martin 2009 [42] |
Cross-sectional | France | PV, ET & MF | NR | NR | NR | NR | NR | NR | SS | 2008 WHO |
| 26 | Schlenk 2016 [43] |
Cross-sectional | Germany | MF | 96 (33) | NR | NR | NR | NR | 30.2 | SS | 2008 WHO, IWG-MRT |
| 27 | Schnittger 2012 [44] |
Cross-sectional | Germany | ET & MF | NR | NR | NR | NR | NR | NR | SS, HRM | NR |
| 28 | Segura-Díaz 2020 [45] |
Cross-sectional | Spain | PV, ET & MF | 68 (40) | 68.0 (43.0–90.0) |
NR | NR | NR | 8.8 | NGS | 2016 WHO |
| 29 | Song 2017 [46] |
Cross-sectional | USA | PV, ET & MF | 135 (64) | NR | NR | NR | NR | 21.2 | NGS | 2008 WHO |
| 30 | Tefferi 2009 [47] |
Cross-sectional | USA | PV, ET & MF | 227 (111) | NR | NR | NR | NR | NR | NGS | 2001 WHO |
| 31 | Tefferi 2010 [48] |
Cross-sectional | USA | PV, ET & MF | 908 (487) | NR | NR | NR | NR | NR | NGS | 2008 WHO, IWG-MRT |
| 32 | Tefferi 2016 [49] |
Cross-sectional | USA | MF | 182 (64) | 63.0 (22.0–87.0) |
10.1 (5.8–16.0) |
10.5 (1.9–219.0) |
224.0 (11.0–1493.0) |
35.7 | NGS | 2008 WHO |
| 33 | Tefferi 2016a [50] |
Cross-sectional | USA | PV & ET | 316 (177) | NR | NR | NR | NR | 11.4 | NGS | 2008 WHO |
| 34 | Verger 2014 [51] |
Cross-sectional | France | PV, ET & MF | 27 (NR) | NR | NR | NR | NR | NR | SS | NR |
| 35 | Zhang 2015 [52] |
Cross-sectional | China | MF | 36 (15) | 65.0 (46.0–93.0) |
10.9 (3.0–16.0) |
22.3 (1.4–54.5) |
215.0 (3.0–1157.0) |
11.1 | WGS | 2008 WHO |
aCGH: array-comparative genomic hybridisation; ASXL1: Additional sex combs-like 1; CGH: comparative genomic hybridisation; ELN: European Leukemia Net; ET: essential thrombocythaemia; HRM: high-resolution melting analysis; IQR: interquartile range; IWG-MRT: International Working Group for Myelofibrosis Research and Treatment; MF: myelofibrosis; MPN: myeloproliferative neoplasms; SS: Sanger sequencing; NGS: next-generation sequencing; NR: not reported; PCR-DGGE: polymerase chain reaction-denaturing gradient gel electrophoresis; PV: polycythaemia vera; SD: standard deviation; SNP: single nucleotide polymorphism; TET2: Ten–eleven translocation 2; UK: United Kingdom; USA: United States of America; WGS: whole-genome sequencing; WHO: World Health Organization.