Table 2.
The pooled prevalence of TET2 gene mutations in different subgroups of MPN.
| Subgroups | Prevalence [95% CIs] (%) |
Number of Studies Analysed | Total Number of Patients | Heterogeneity | Publication Bias, Egger’s Test (p-Value) | |
|---|---|---|---|---|---|---|
| I 2 | p-Value | |||||
| Overall myeloproliferative neoplasms | ||||||
| Europe | 13.0 [8.8–17.2] | 19 | 2010 | 92% | <0.0001 | 0.004 |
| North America | 17.4 [14.0–20.9] | 11 | 1976 | 74% | <0.0001 | 0.0005 |
| Asia | 20.8 [10.5–31.1] | 4 | 291 | 80% | 0.001 | NA |
| Australia | 7.0 [0.0–14.6] | 1 | 43 | NA | NA | NA |
| China | 23.9 [9.6–38.1] | 3 | 200 | 82% | 0.003 | NA |
| France | 13.6 [10.6–16.7] | 5 | 480 | 0% | 0.67 | NA |
| Germany | 14.2 [9.2–19.1] | 5 | 510 | 61% | 0.03 | NA |
| Italy | 1.9 [0.0–5.7] | 2 | 607 | 71% | 0.06 | NA |
| Spain | 10.7 [0.0–23.2] | 2 | 130 | 82% | 0.01 | NA |
| USA | 17.4 [14.0–20.9] | 11 | 1976 | 74% | <0.0001 | 0.0005 |
| WHO criteria reported | 15.7 [11.8–19.7] | 27 | 3782 | 95% | <0.0001 | 0.0002 |
| WHO criteria not reported | 13.1 [8.9–17.3] | 8 | 538 | 47% | 0.06 | 0.005 |
| WHO 2001 criteria | 12.9 [10.2–15.5] | 3 | 613 | 0% | 0.93 | NA |
| WHO 2008 criteria | 14.5 [9.7–19.3] | 17 | 2594 | 95% | <0.0001 | 0.0004 |
| WHO 2016 criteria | 20.1 [14.7–25.4] | 7 | 575 | 61% | 0.01 | 0.40 |
| NGS method | 17.2 [14.0–20.4] | 18 | 2604 | 80% | <0.0001 | 0.0007 |
| SS method | 12.7 [9.6–15.9] | 11 | 965 | 52% | 0.02 | 0.001 |
| HRM method | 7.7 [0.0–16.6] | 3 | 621 | 88% | 0.0002 | NA |
| Polycythaemia vera | ||||||
| Europe | 14.6 [8.0–21.1] | 10 | 343 | 63% | 0.01 | 0.58 |
| North America | 18.2 [14.2–22.5] | 9 | 839 | 57% | 0.01 | NA |
| Asia | 29.6 [14.1–45.2] | 2 | 39 | 17% | 0.27 | NA |
| Australia | 0.0 [0.0–15.0] | 1 | 8 | NA | NA | NA |
| France | 12.5 [7.6–17.5] | 4 | 172 | 0% | 0.90 | NA |
| Spain | 12.7 [0.0–37.2] | 2 | 21 | 61% | 0.28 | NA |
| USA | 18.2 [14.0–22.5] | 9 | 839 | 57% | 0.01 | NA |
| WHO 2001 criteria | 13.7 [9.6–17.9] | 3 | 260 | 0% | 0.40 | NA |
| WHO 2008 criteria | 16.9 [11.3–22.6] | 12 | 685 | 69% | 0.0009 | 0.77 |
| WHO 2016 criteria | 21.4 [15.6–27.3] | 4 | 256 | 16% | 0.31 | NA |
| NGS method | 19.8 [15.1–24.6] | 12 | 922 | 67% | 0.0005 | 0.009 |
| SS method | 13.0 [8.4–17.7] | 7 | 203 | 0% | 0.71 | NA |
| HRM method | 0.0 [0.0–22.1] | 1 | 5 | NA | NA | NA |
| Essential thrombocythaemia | ||||||
| Europe | 8.8 [5.7–12.0] | 12 | 531 | 39% | 0.08 | 0.002 |
| North America | 8.7 [3.8–13.6] | 7 | 507 | 69% | 0.003 | NA |
| Asia | 25.1 [0.0–56.9] | 2 | 100 | 93% | 0.0002 | NA |
| Australia | 6.2 [0.0–18.1] | 1 | 16 | NA | NA | NA |
| France | 9.7 [5.3–14.2] | 4 | 166 | 0% | 0.44 | NA |
| Spain | 12.1 [0.0–21.2] | 2 | 46 | 74% | 0.04 | NA |
| USA | 8.7 [3.8–13.6] | 7 | 507 | 69% | 0.003 | NA |
| WHO 2001 criteria | 5.3 [1.1–9.6] | 3 | 180 | 44% | 0.16 | NA |
| WHO 2008 criteria | 9.4 [6.1–12.6] | 11 | 700 | 49% | 0.03 | 0.06 |
| WHO 2016 criteria | 20.3 [0.0–43.7] | 3 | 81 | 89% | <0.0001 | 0.41 |
| NGS method | 10.2 [6.1–14.4] | 12 | 787 | 75% | <0.0001 | 0.003 |
| SS method | 10.4 [6.2–14.6] | 8 | 316 | 31% | 0.18 | NA |
| HRM method | 14.9 [0.0–35.2] | 2 | 82 | 83% | 0.01 | NA |
| Myelofibrosis | ||||||
| Europe | 13.7 [7.9–19.5] | 15 | 1127 | 85% | <0.0001 | 0.008 |
| North America | 16.8 [12.3–23.7] | 9 | 640 | 52% | 0.09 | NA |
| Asia | 17.4 [11.4–23.5] | 4 | 152 | 0% | 0.82 | NA |
| Australia | 10.5 [0.0–24.3] | 1 | 19 | NA | NA | NA |
| China | 17.4 [11.2–23.6] | 3 | 141 | 0% | 0.63 | NA |
| France | 17.6 [9.9–25.3] | 5 | 142 | 20% | 0.51 | NA |
| Germany | 11.0 [8.0–14.0] | 5 | 410 | 0% | 0.61 | NA |
| Italy | 0.4 [0.0–0.9] | 2 | 527 | 0% | 0.50 | NA |
| Spain | 14.0 [0.0–39.4] | 2 | 32 | 70% | 0.21 | NA |
| USA | 17.7 [13.8–21.6] | 8 | 631 | 35% | 0.15 | NA |
| WHO 2001 criteria | 17.5 [11.9–23.3] | 3 | 173 | 0% | 0.52 | NA |
| WHO 2008 criteria | 14.4 [8.1–20.7] | 15 | 1210 | 90% | <0.0001 | 0.04 |
| WHO 2016 criteria | 16.5 [11.8–21.2] | 4 | 238 | 0% | 0.39 | 0.20 |
| NGS method | 16.5 [13.2–19.8] | 13 | 896 | 38% | 0.17 | 0.053 |
| SS method | 13.3 [9.1–17.5] | 11 | 446 | 24% | 0.35 | 0.01 |
| HRM method | 5.0 [0.0–18.2] | 3 | 534 | 50% | 0.10 | NA |
| Different types of myelofibrosis | ||||||
| PMF | 16.7 [13.6–19.8] | 20 | 853 | 24% | 0.41 | 0.06 |
| SMF | 14.8 [9.3–20.2] | 9 | 158 | 0% | 0.95 | NA |
CIs: confidence intervals; HRM: high-resolution melting analysis; NA: not applicable; NGS: next-generation sequencing; PMF: primary myelofibrosis; SMF: secondary myelofibrosis; SS: Sanger sequencing; WHO: World Health Organization.