Clinical characteristics of 11 patients with JMML with RAS mutations
| Case (no) . | Mutations . | Age (mo) . | Sex . | Liver (cm) . | Spleen (cm) . | WBC (109/L) . | Mono (%) . | Hb (g/dL) . | Plt (109/L) . | HbF (%) . | Treatment (Interval after diagnosis) . | Outcome (Interval after diagnosis) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NRAS, codon 61 CAA (Gln) > CTA (Leu) | 1 | M | 3 | 2 | 151.0 | 31.6 | 8.4 | 34 | 65 | famil BMT (2 mo) | dead (2 mo) |
| 2 | KRAS, codon 13 GGC (Gly) > GAC (Asp) | 7 | F | 6 | 10 | 17.9 | 9 | 6.4 | 15 | 16.8 | sib BMT (5 mo) | alive (+43 mo) |
| 3 | NRAS, codon 12 GGT (Gly) > GAT (Asp) | 12 | F | 10 | 8 | 61.0 | 21 | 6.6 | 12 | 50.4 | 6-MP+Ara-C+VP-16 (0 mo), UCBT (2 mo) | alive (+22 mo) |
| 4 | NRAS, codon 13 GGT (Gly) > GAT (Asp) | 4 | M | 3 | 10 | 72.3 | 21 | 8.1 | 65 | 13.2 | 6-MP (0 mo), UBMT in preparation | alive (+44 mo) |
| 5 | NRAS, codon 12 GGT (Gly) > GAT (Asp) | 2 | M | 2 | 6.5 | 84.0 | 22 | 11.6 | 110 | 25.1 | 6-MP (1 mo) | alive (+4 mo) |
| 6 | KRAS, codon 12 GGT (Gly) > GAT (Asp) | 22 | F | 0 | 0 | 28.8 | 11 | 11.6 | 41 | 20.1 | 6-MP (3 mo), Pred (6 mo) | dead (6 mo) |
| 7 | NRAS, codon 12 GGT (Gly) > TGT (Cys) | 2 | M | 4 | 1.5 | 32.4 | 19 | 10.6 | 90 | 8.9 | 6-MP (6 mo), UBMT (36 mo) | dead (47 mo) |
| 8 | NRAS, codon 13 GGT (Gly) > GAT (Asp) | 12 | M | 0 | 0 | 14.6 | 10 | 8.8 | 52 | 4.5 | 6-MP (9 mo), UCBT (11 mo) | alive (+16 mo) |
| 9 | NRAS, codon 12 GGT (Gly) > AGT (Ser) | 10 | M | 4 | 5 | 29.4 | 16.5 | 10.5 | 113 | 0.5 | None | alive (+50 mo) |
| 10 | NRAS, codon 12 GGT (Gly) > AGT (Ser) | 10 | M | 5 | 10 | 31.8 | 20 | 5.4 | 100 | 1.7 | None | alive (+42 mo) |
| 11 | KRAS, codon 12 GGT (Gly) > AGT (Ser) | 4 | F | 4 | 1 | 21.2 | 8 | 11 | 52 | 8.8 | None | alive (+30 mo) |
| Case (no) . | Mutations . | Age (mo) . | Sex . | Liver (cm) . | Spleen (cm) . | WBC (109/L) . | Mono (%) . | Hb (g/dL) . | Plt (109/L) . | HbF (%) . | Treatment (Interval after diagnosis) . | Outcome (Interval after diagnosis) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | NRAS, codon 61 CAA (Gln) > CTA (Leu) | 1 | M | 3 | 2 | 151.0 | 31.6 | 8.4 | 34 | 65 | famil BMT (2 mo) | dead (2 mo) |
| 2 | KRAS, codon 13 GGC (Gly) > GAC (Asp) | 7 | F | 6 | 10 | 17.9 | 9 | 6.4 | 15 | 16.8 | sib BMT (5 mo) | alive (+43 mo) |
| 3 | NRAS, codon 12 GGT (Gly) > GAT (Asp) | 12 | F | 10 | 8 | 61.0 | 21 | 6.6 | 12 | 50.4 | 6-MP+Ara-C+VP-16 (0 mo), UCBT (2 mo) | alive (+22 mo) |
| 4 | NRAS, codon 13 GGT (Gly) > GAT (Asp) | 4 | M | 3 | 10 | 72.3 | 21 | 8.1 | 65 | 13.2 | 6-MP (0 mo), UBMT in preparation | alive (+44 mo) |
| 5 | NRAS, codon 12 GGT (Gly) > GAT (Asp) | 2 | M | 2 | 6.5 | 84.0 | 22 | 11.6 | 110 | 25.1 | 6-MP (1 mo) | alive (+4 mo) |
| 6 | KRAS, codon 12 GGT (Gly) > GAT (Asp) | 22 | F | 0 | 0 | 28.8 | 11 | 11.6 | 41 | 20.1 | 6-MP (3 mo), Pred (6 mo) | dead (6 mo) |
| 7 | NRAS, codon 12 GGT (Gly) > TGT (Cys) | 2 | M | 4 | 1.5 | 32.4 | 19 | 10.6 | 90 | 8.9 | 6-MP (6 mo), UBMT (36 mo) | dead (47 mo) |
| 8 | NRAS, codon 13 GGT (Gly) > GAT (Asp) | 12 | M | 0 | 0 | 14.6 | 10 | 8.8 | 52 | 4.5 | 6-MP (9 mo), UCBT (11 mo) | alive (+16 mo) |
| 9 | NRAS, codon 12 GGT (Gly) > AGT (Ser) | 10 | M | 4 | 5 | 29.4 | 16.5 | 10.5 | 113 | 0.5 | None | alive (+50 mo) |
| 10 | NRAS, codon 12 GGT (Gly) > AGT (Ser) | 10 | M | 5 | 10 | 31.8 | 20 | 5.4 | 100 | 1.7 | None | alive (+42 mo) |
| 11 | KRAS, codon 12 GGT (Gly) > AGT (Ser) | 4 | F | 4 | 1 | 21.2 | 8 | 11 | 52 | 8.8 | None | alive (+30 mo) |
Liver and spleen sizes are given in cm below the costal margin. Case no. 1 had monosomy 7 at diagnosis. Case nos. 4 and 7 had a normal karyotype at presentation, but monosomy 7 approximately 3 years after diagnosis. The other 8 patients had normal karyotype. Ara-C, cytarabine; famil BMT, related nonsibling bone marrow transplantation; Hb F, hemoglobin F; mo, month(s); Mono, monocyte; 6-MP, 6-mercaptopurine; Plt, platelet count; Pred, prednisolone; sib BMT, sibling bone marrow transplantation; UBMT, unrelated bone marrow transplantation; UCBT, unrelated cord blood transplantation; VP-16, etoposide; WBC, white blood cell count.