Clinical and cytogenetic characteristics as well as types of mutations of CN patients who progressed to leukemia or MDS
| Patient number . | AML subtype . | Karyotype . | Inherited mutations . | Acquired RUNX1 mutations* . | Acquired CSF3R mutations† . | Acquired AML-associated mutations . |
|---|---|---|---|---|---|---|
| 6 | AML M5 | 45,XX,-7 | ELANE (L152P) | R80S | Q726X | |
| 7 | MDS/ AML M1 | 46,XY-7, +21 | ELANE (S126L) | R135K | Q726P | |
| 14 | AML M1 | 45,XY,-7[9];46,XY[11] (2010)47,XY +21[13];46,XY[2] (2011) | ELANE (C151Y) | R139G M240I | Q718X | |
| 15 | AML M1 | t(p1;q3) | ELANE (C151Y) | R139X | Q731X | |
| 16 | AML M4 | 46,XY | ELANE (G214R) | R174X | Q720X | |
| 18 | AML FAB NA | 46, XY, t(9;11) | ELANE (N113K) | R64P | Q718X | |
| 22 | AML M1 | 46,XY | ELANE (IVS4+1G>T) | K83Q | Q718X | |
| 30 | pre-B ALL | 48,XX,del(5)(q21q34),þ21,þ 22(16)/46,XX[8] | ELANE (G185R) | A160T S114X | Q702X | |
| 31 | RAEBT/AML FAB NA | 47,XY, +21 [14] /46, XY [4] | ELANE (G174R) | D171N | Q718X, Q726X | SUZ12, EP300‡ |
| 21 | AML M2 | 47,XX +mar[8], 47, idem, del(10)(q32) | ELANE (G214R) GFI1 | R174X L294QfsX6 | Q739X | |
| 4 | AML M0 | 45,XX,-7[12];46,XX[11] | WAS (S478I) | Intron 4, c.415_427dup6 Intron 4, c.421_427dup7 | Q707L | SUZ12 (S154X) EP300 (R2263X) |
| 20 | MDS RAEB | 46,XX,add(2)(q37),add(7)(q22) | WAS | Q370X | Y729X | CBL (splice site c.1096-1G>C (Intron 7) |
| 26 | AML FAB NA | 45,XY,-7 | WAS (L270P) | R80S | Y729X | CREBBP (I2329M) |
| 10 | MDS RAEB | 45,XY −7 [10], 46XY [5] | HAX1 (V44X) | F13TrpfsX14 R139ProfsX47 | Q726P | FLT3-ITD |
| 19 | MDS | 46,XX | HAX1 (V44X) | L29S, R64P | Y729X | |
| 12 | AML M2 | 47,XX,+21 | GPT1 | K83Q | Q720X | |
| 25 | MDS RAEB-2 | 46,XX,dup(21)(q22.1q22.3)[19] | Neg | S114P Y380_G394delinsC | Q726X | |
| 11 | AML/B-ALL | 46,XY,add(21q) | ELANE (A57V) | R174L | neg | |
| 13 | AML FAB NA | 46,XX | ELANE (A79VfsX9) | R139X V137D | neg | FLT3-ITD |
| 17 | MDS | 46,XY | HAX1 (V44X) | I22K | neg | EP300 (C369F) |
| 1 | AML M2/M4 | 47,XY,+ 8 | ELANE (D230MfsX1) | Neg | Q716X, Q726X | |
| 9 | AML M2 | 46,XX, del 7q [9], 46XX [1] | ELANE (S126X) | Neg | Q731X | |
| 24 | AML M5 | 5Q-deletion, a translocation of chr. I and 21 | ELANE (Y228X) | Neg | Y729X | |
| 27 | MDS/AML FAB NA | 47,XY, −7, +21, +21 [9]/46, XY [5] | ELANE (L92P) | Neg | Q718X | |
| 5 | MDS RAEB-T | 46.XY | HAX1 (V44X) | Neg | Q726X | |
| 3 | MDS RAEB | 45,XX,-7,del(18)(q22) [11/45],idem,der(6)t(3,6)(q13;p24) [2]/ 45,XX,-7,del(13)(q13q33) [2] | WAS (I331M) | Neg | Q716X | NRAS§ |
| Patient number . | AML subtype . | Karyotype . | Inherited mutations . | Acquired RUNX1 mutations* . | Acquired CSF3R mutations† . | Acquired AML-associated mutations . |
|---|---|---|---|---|---|---|
| 6 | AML M5 | 45,XX,-7 | ELANE (L152P) | R80S | Q726X | |
| 7 | MDS/ AML M1 | 46,XY-7, +21 | ELANE (S126L) | R135K | Q726P | |
| 14 | AML M1 | 45,XY,-7[9];46,XY[11] (2010)47,XY +21[13];46,XY[2] (2011) | ELANE (C151Y) | R139G M240I | Q718X | |
| 15 | AML M1 | t(p1;q3) | ELANE (C151Y) | R139X | Q731X | |
| 16 | AML M4 | 46,XY | ELANE (G214R) | R174X | Q720X | |
| 18 | AML FAB NA | 46, XY, t(9;11) | ELANE (N113K) | R64P | Q718X | |
| 22 | AML M1 | 46,XY | ELANE (IVS4+1G>T) | K83Q | Q718X | |
| 30 | pre-B ALL | 48,XX,del(5)(q21q34),þ21,þ 22(16)/46,XX[8] | ELANE (G185R) | A160T S114X | Q702X | |
| 31 | RAEBT/AML FAB NA | 47,XY, +21 [14] /46, XY [4] | ELANE (G174R) | D171N | Q718X, Q726X | SUZ12, EP300‡ |
| 21 | AML M2 | 47,XX +mar[8], 47, idem, del(10)(q32) | ELANE (G214R) GFI1 | R174X L294QfsX6 | Q739X | |
| 4 | AML M0 | 45,XX,-7[12];46,XX[11] | WAS (S478I) | Intron 4, c.415_427dup6 Intron 4, c.421_427dup7 | Q707L | SUZ12 (S154X) EP300 (R2263X) |
| 20 | MDS RAEB | 46,XX,add(2)(q37),add(7)(q22) | WAS | Q370X | Y729X | CBL (splice site c.1096-1G>C (Intron 7) |
| 26 | AML FAB NA | 45,XY,-7 | WAS (L270P) | R80S | Y729X | CREBBP (I2329M) |
| 10 | MDS RAEB | 45,XY −7 [10], 46XY [5] | HAX1 (V44X) | F13TrpfsX14 R139ProfsX47 | Q726P | FLT3-ITD |
| 19 | MDS | 46,XX | HAX1 (V44X) | L29S, R64P | Y729X | |
| 12 | AML M2 | 47,XX,+21 | GPT1 | K83Q | Q720X | |
| 25 | MDS RAEB-2 | 46,XX,dup(21)(q22.1q22.3)[19] | Neg | S114P Y380_G394delinsC | Q726X | |
| 11 | AML/B-ALL | 46,XY,add(21q) | ELANE (A57V) | R174L | neg | |
| 13 | AML FAB NA | 46,XX | ELANE (A79VfsX9) | R139X V137D | neg | FLT3-ITD |
| 17 | MDS | 46,XY | HAX1 (V44X) | I22K | neg | EP300 (C369F) |
| 1 | AML M2/M4 | 47,XY,+ 8 | ELANE (D230MfsX1) | Neg | Q716X, Q726X | |
| 9 | AML M2 | 46,XX, del 7q [9], 46XX [1] | ELANE (S126X) | Neg | Q731X | |
| 24 | AML M5 | 5Q-deletion, a translocation of chr. I and 21 | ELANE (Y228X) | Neg | Y729X | |
| 27 | MDS/AML FAB NA | 47,XY, −7, +21, +21 [9]/46, XY [5] | ELANE (L92P) | Neg | Q718X | |
| 5 | MDS RAEB-T | 46.XY | HAX1 (V44X) | Neg | Q726X | |
| 3 | MDS RAEB | 45,XX,-7,del(18)(q22) [11/45],idem,der(6)t(3,6)(q13;p24) [2]/ 45,XX,-7,del(13)(q13q33) [2] | WAS (I331M) | Neg | Q716X | NRAS§ |
NA, not available; pre-B ALL, pre-B acute lymphoblastic leukemia.
For all patients except patient 17 amino acid positions according to the RUNX1 transcript variant Q01196 (www.uniprot.org) was used; for patient 17 amino acid positions according to the RUNX1 transcript variant Q2TAM6 (www.uniprot.org) was used.
Amino acid positions were assigned as has been reported by Dong et al10 or by UniProtKB Q99062 minus 23 amino acids of signal peptide.
See Beekman et al.25
N-RAS mutations were measured according Nakao M. et al.26