Sequential studies in the AML patients with RUNX1 mutations*
| UPN . | Date . | Status . | Karyotype . | RUNX1 mutation . | Other mutations . | |
|---|---|---|---|---|---|---|
| Patients with distinct mutations | ||||||
| 3 | 01/26/1998 | Initial | 46,XY | MissenseFrameshift | W79XG115fsX118 | — |
| 05/16/1998 | CR | — | — | — | ||
| 05/16/2000 | Relapse | 45,XY,t(3;5)(q26;q13),-7 | Nonsense | W79X | — | |
| 4 | 04/30/1999 | Initial | 46,XY | MissenseFrameshift | A115TC287fsX571 | — |
| 10/09/2000 | CR | — | — | |||
| 8 | 07/19/1996 | Initial | 45,XY,-7 | Nonsense | Q181X | — |
| 8/26/1996 | CR | 46,XY | — | — | ||
| 9 | 06/15/1998 | Initial | 47,XY,+21 | Missense | K83Q | CEBPA |
| 07/16/1998 | CR | 46,XY | — | — | ||
| 11 | 05/20/1998 | Initial | 47,Y,inv(X)(p11q26),+del(8)(p21p23),del(8)(p22p23) | Nonsense | R178X | FLT3/ITD and NRAS |
| 10/20/1998 | CR | 46,XY | — | — | ||
| 12 | 05/21/1997 | Initial | 46,XY | Frameshift | L314fsX572 | — |
| 08/11/1997 | CR | — | — | — | ||
| 15 | 04/05/2000 | Initial | 46,XY,t(10;11)(q24;p15),add(6)(p25) | Frameshift | W31fsX35 | FLT3/ITD |
| 10/03/2000 | CR | 46,XY | — | — | ||
| 17 | 11/26/2001 | Initial | 46,XX | NonsenseMissense | R177XS114W | — |
| 04/01/2002 | CR | — | — | — | ||
| 11/15/2002 | Relapse | ND | NonsenseMissense | R117XS114W | FLT3/ITD | |
| 18 | 07/10/2002 | Initial | 47,XY,+8 | Frameshift | Q158fsX185 | — |
| 03/04/2003 | CR | 46,XY | — | — | ||
| 23 | 10/21/2002 | Initial | 46,XY | Nonsense | T121X | FLT3/ITD and FLT3/TKD |
| 02/06/2003 | CR | — | — | — | ||
| 04/30/2004 | Relapse | 46,XY | — | FLT3/ITD | ||
| 28 | 11/20/2003 | Initial | 45,XY,-7del(12)(p12p13) | Missense | D171G | PTPN11 |
| 01/28/2004 | CR | 46,XY | — | — | ||
| 29 | 06/12/2001 | Initial | 47,XX,+8 | Frameshift | L295fsX572 | — |
| 01/17/2002 | CR | 46,XX | — | — | ||
| 35 | 02/06/2004 | Initial | 46,XX | MissenseMissense | S114PA165T | FLT3/ITD |
| 06/01/2004 | CR | — | — | — | ||
| 03/07/2005 | Relapse | ND | Missense | S114P | FLT3/ITD | |
| 41 | 12/20/2004 | Initial | NM | Missense | R135K | — |
| 01/28/2005 | CR | ND | — | — | ||
| 44 | 11/15/2005 | Initial | 46,XY | Missense | R135K | — |
| 04/18/2006 | CR | — | — | — | ||
| 45 | 12/06/2005 | Initial | 46,XY | Frameshift | N209fsX233 | — |
| 01/12/2006 | CR | — | — | — | ||
| 48 | 07/21/2006 | Initial | 46,XY | Frameshift | G118fsX122 | WT1 and FLT3/TKD |
| 09/21/2006 | CR | — | — | — | ||
| 07/15/2008 | Relapse | 46,XY | — | WT1 and FLT3/TKD | ||
| 53 | 03/16/2006 | Initial | 46,XY | Frameshift | T244fsX568 | FLT3/ITD |
| 06/21/2006 | CR | — | — | — | ||
| 06/03/2008 | Relapse | ND | Frameshift | T244fsX568 | FLT3/ITD | |
| Patients with insignificant mutations | ||||||
| 63 | 09/25/1998 | Initial | 46,XY,t(7;11)(p15;p15) | V425G | — | |
| 11/20/1998 | CR | 46,XY | V425G | — | ||
| 03/18/1999 | Relapse | 46,XY,t(7;11)(p15;p15) | V425G | — | ||
| 64 | 04/25/2000 | Initial | 46,XX,del(16q) | V425G | — | |
| 01/07/2002 | CR | ND | V425G | — | ||
| 65 | 10/11/2002 | Initial | 46,XX | M439L | — | |
| 06/09/2003 | CR | — | M439L | — | ||
| 66 | 10/11/2004 | Initial | 45,X,-Y, t(7;21;8)(q32;q22;q24) | G42R | KIT(D816V) | |
| 12/22/2004 | CR | 46,XY | G42R | — | ||
| 07/28/2005 | Relapse | 45,X,-Y,t(7;21;8)(q32;q22;q24),t(8;16)(q11;p11),del(11)(q14q23) | G42R | KIT(D816V) | ||
| 68 | 02/23/2006 | Initial | 46,XY, inv(16)(p13q22) | D317N | — | |
| 04/03/2006 | CR | 46,XY | D317N | — | ||
| 09/05/2007 | Relapse | 46,XY, inv(16)(p13q22) | D317N | — | ||
| 69 | 12/25/2006 | Initial | 47,XX,+8, inv(16)(p13q22) | V425G | NRAS (Q61R) | |
| 01/25/2007 | CR | 46,XX | V425G | — | ||
| 12/20/2007 | Relapse | 46,XX | V425G | — | ||
| 70 | 08/13/2007 | Initial | 46,XX | M439L | — | |
| 09/13/2007 | CR | — | M439L | — | ||
| 01/11/2008 | Relapse | 46,XX | M439L | ND | ||
| UPN . | Date . | Status . | Karyotype . | RUNX1 mutation . | Other mutations . | |
|---|---|---|---|---|---|---|
| Patients with distinct mutations | ||||||
| 3 | 01/26/1998 | Initial | 46,XY | MissenseFrameshift | W79XG115fsX118 | — |
| 05/16/1998 | CR | — | — | — | ||
| 05/16/2000 | Relapse | 45,XY,t(3;5)(q26;q13),-7 | Nonsense | W79X | — | |
| 4 | 04/30/1999 | Initial | 46,XY | MissenseFrameshift | A115TC287fsX571 | — |
| 10/09/2000 | CR | — | — | |||
| 8 | 07/19/1996 | Initial | 45,XY,-7 | Nonsense | Q181X | — |
| 8/26/1996 | CR | 46,XY | — | — | ||
| 9 | 06/15/1998 | Initial | 47,XY,+21 | Missense | K83Q | CEBPA |
| 07/16/1998 | CR | 46,XY | — | — | ||
| 11 | 05/20/1998 | Initial | 47,Y,inv(X)(p11q26),+del(8)(p21p23),del(8)(p22p23) | Nonsense | R178X | FLT3/ITD and NRAS |
| 10/20/1998 | CR | 46,XY | — | — | ||
| 12 | 05/21/1997 | Initial | 46,XY | Frameshift | L314fsX572 | — |
| 08/11/1997 | CR | — | — | — | ||
| 15 | 04/05/2000 | Initial | 46,XY,t(10;11)(q24;p15),add(6)(p25) | Frameshift | W31fsX35 | FLT3/ITD |
| 10/03/2000 | CR | 46,XY | — | — | ||
| 17 | 11/26/2001 | Initial | 46,XX | NonsenseMissense | R177XS114W | — |
| 04/01/2002 | CR | — | — | — | ||
| 11/15/2002 | Relapse | ND | NonsenseMissense | R117XS114W | FLT3/ITD | |
| 18 | 07/10/2002 | Initial | 47,XY,+8 | Frameshift | Q158fsX185 | — |
| 03/04/2003 | CR | 46,XY | — | — | ||
| 23 | 10/21/2002 | Initial | 46,XY | Nonsense | T121X | FLT3/ITD and FLT3/TKD |
| 02/06/2003 | CR | — | — | — | ||
| 04/30/2004 | Relapse | 46,XY | — | FLT3/ITD | ||
| 28 | 11/20/2003 | Initial | 45,XY,-7del(12)(p12p13) | Missense | D171G | PTPN11 |
| 01/28/2004 | CR | 46,XY | — | — | ||
| 29 | 06/12/2001 | Initial | 47,XX,+8 | Frameshift | L295fsX572 | — |
| 01/17/2002 | CR | 46,XX | — | — | ||
| 35 | 02/06/2004 | Initial | 46,XX | MissenseMissense | S114PA165T | FLT3/ITD |
| 06/01/2004 | CR | — | — | — | ||
| 03/07/2005 | Relapse | ND | Missense | S114P | FLT3/ITD | |
| 41 | 12/20/2004 | Initial | NM | Missense | R135K | — |
| 01/28/2005 | CR | ND | — | — | ||
| 44 | 11/15/2005 | Initial | 46,XY | Missense | R135K | — |
| 04/18/2006 | CR | — | — | — | ||
| 45 | 12/06/2005 | Initial | 46,XY | Frameshift | N209fsX233 | — |
| 01/12/2006 | CR | — | — | — | ||
| 48 | 07/21/2006 | Initial | 46,XY | Frameshift | G118fsX122 | WT1 and FLT3/TKD |
| 09/21/2006 | CR | — | — | — | ||
| 07/15/2008 | Relapse | 46,XY | — | WT1 and FLT3/TKD | ||
| 53 | 03/16/2006 | Initial | 46,XY | Frameshift | T244fsX568 | FLT3/ITD |
| 06/21/2006 | CR | — | — | — | ||
| 06/03/2008 | Relapse | ND | Frameshift | T244fsX568 | FLT3/ITD | |
| Patients with insignificant mutations | ||||||
| 63 | 09/25/1998 | Initial | 46,XY,t(7;11)(p15;p15) | V425G | — | |
| 11/20/1998 | CR | 46,XY | V425G | — | ||
| 03/18/1999 | Relapse | 46,XY,t(7;11)(p15;p15) | V425G | — | ||
| 64 | 04/25/2000 | Initial | 46,XX,del(16q) | V425G | — | |
| 01/07/2002 | CR | ND | V425G | — | ||
| 65 | 10/11/2002 | Initial | 46,XX | M439L | — | |
| 06/09/2003 | CR | — | M439L | — | ||
| 66 | 10/11/2004 | Initial | 45,X,-Y, t(7;21;8)(q32;q22;q24) | G42R | KIT(D816V) | |
| 12/22/2004 | CR | 46,XY | G42R | — | ||
| 07/28/2005 | Relapse | 45,X,-Y,t(7;21;8)(q32;q22;q24),t(8;16)(q11;p11),del(11)(q14q23) | G42R | KIT(D816V) | ||
| 68 | 02/23/2006 | Initial | 46,XY, inv(16)(p13q22) | D317N | — | |
| 04/03/2006 | CR | 46,XY | D317N | — | ||
| 09/05/2007 | Relapse | 46,XY, inv(16)(p13q22) | D317N | — | ||
| 69 | 12/25/2006 | Initial | 47,XX,+8, inv(16)(p13q22) | V425G | NRAS (Q61R) | |
| 01/25/2007 | CR | 46,XX | V425G | — | ||
| 12/20/2007 | Relapse | 46,XX | V425G | — | ||
| 70 | 08/13/2007 | Initial | 46,XX | M439L | — | |
| 09/13/2007 | CR | — | M439L | — | ||
| 01/11/2008 | Relapse | 46,XX | M439L | ND | ||
UPN indicates unique patient number; ND, not done; NM, no mitosis; and —, not applicable.
The data of serial studies in another 108 patients who had no RUNX1 mutation at diagnosis were not shown in this table. None of these 108 patients acquired RUNX1 mutation at relapse after a median interval of 48 months (range, 5-160 months); 41.6% of them had karyotypic evolution at relapse.