PTPN11 (NM_002834) mutations identified in sporadic JMML (n=32) and NS-JMML/MPD (n=36) in comparison with the prevalence of these mutations in NS patients who did not develop myeloproliferative disease (n=605)
| Mutation | Exon | Domain | Mutation group (17) | Sporadic JMML PTPN11mut (n=32) | NS-JMML/MPD (n=36) | NS-JMML/MPD (14) (n=8) | NS-JMML/MPD (30) (n=3) | NS-PTPN11 without MPD/JMML (n=605) |
|---|---|---|---|---|---|---|---|---|
| p.Thr42Ala | 2 | N-SH2 | V | – | 2 (5.5%) | – | – | 5 (0.8%) |
| p.Gly60Ala | 3 | N-SH2 | I | – | 1 (2.8%)* | – | – | 10 (1.6%) |
| p.Gly60Arg | 3 | N-SH2 | I | 2 (6.2%) | – | – | – | |
| p.Asp61Gly | 3 | N-SH2 | I | – | 4 (11.1%) | 2 | – | 18 (3.0%) |
| p.Asp61His | 3 | N-SH2 | I | – | 2 (5.5%)‡ | – | – | 0 (0%) |
| p.Asp61Asn | 3 | N-SH2 | I | – | 4 (11.1%)* | – | 2 | 20 (3.3%) |
| p.Asp61Val | 3 | N-SH2 | I | 6 (18.7%) | – | – | – | – |
| p.Asp61Tyr | 3 | N-SH2 | I | 4 (12.5%) | – | – | – | – |
| p.Tyr62Asp | 3 | N-SH2 | I | – | 1 (2.8%) | – | – | 15 (2.5%) |
| p.Phe71Leu | 3 | N-SH2 | I | – | 1 (2.8%) | – | – | 0 (0%) |
| p.Ala72Thr | 3 | N-SH2 | I | 2 (6.2%) | – | – | – | – |
| p.Ala72Val | 3 | N-SH2 | I | 4 (12.5%) | – | – | – | – |
| p.Ala72Gly | 3 | N-SH2 | I | – | 2 (5.5%) | 1 | – | 6 (1.0%) |
| p.Thr73Ile | 3 | N-SH2 | I | – | 4 (11.1%) | 2 | – | 1 (0.2%) |
| p.Glu76Gly | 3 | N-SH2 | I | 6 (18.7%) | – | – | – | – |
| p.Glu76Ala | 3 | N-SH2 | I | 1 (3.1%) | – | – | – | – |
| p.Glu76Lys | 3 | N-SH2 | I | 3 (9.4%) | – | – | – | – |
| p.Glu76Gln | 3 | N-SH2 | I | 1 (3.1%) | – | – | – | – |
| p.Glu76Val | 3 | N-SH2 | I | 1 (3.1%) | – | – | – | – |
| p.Glu139Asp | 4 | linker | V | – | 3 (8.3%)*† | – | – | 30 (5.0%) |
| p.Phe285Ser | 7 | PTP | IV | – | 1 (2.8%) | 8 (1.3%) | ||
| p.Phe285Leu | 7 | PTP | IV | – | 1 (2.8%) | – | 1 | 0 (0%) |
| p.Asn308Ser | 8 | PTP | IV | – | 4 (11.1%)* | – | – | 22 (4.1%) |
| p.Asn308Asp | 8 | PTP | IV | – | 2 (5.5%) | – | – | 131 (21.7%) |
| p.Arg498Trp | 13 | PTP | IV | – | – | 1 | – | 4 (0.6%) |
| p.Ser502Leu | 13 | PTP | III | – | 1 (2.8%) | 0 (0%) | ||
| p.Ser502Ala | 13 | PTP | III | – | – | 1 | – | 5 (0.8%) |
| p.Gly503Ala | 13 | PTP | III | 2 (6.2%) | – | – | – | 0 (0%) |
| p.Gly503Arg | 13 | PTP | III | – | 2 (5.5%) | – | – | 19 (3.1%) |
| p.Gln506Pro | 13 | PTP | II | – | 1 (2.8%) | 1 | – | 4 (0.7%) |
Mutations found in 2 previously published series are given.14 ,30
*Germline PTPN11 mutation inherited from one parent.
†Mutation also observed in 2 cases of NS-MPD out of 180 NS-PTPN11 (M Zenker, unpublished).
‡Observed once in a hydropic abortus (M Zenker, unpublished).