Sequence analyses of different clinical stages in a patient with congenital neutropenia who developed acute myeloid leukemia
. | CN . | CN/AML . | During chemotherapy June 1998 . | Complete remission July 1998 . | After BMT August 1999 . | |||
---|---|---|---|---|---|---|---|---|
Time point . | Nov 1989* . | May 1994 . | April 1996 . | March 1998 . | ||||
Sample material | BM gDNA | PB-PMC RNA | PB-MNC RNA | PB-PMC RNA | PB-MNC RNA | PB-PMC RNA | PB-PMC RNA | PB-PMC RNA |
Total number of clones tested (100%) | 25 | 27 | 26 | 32 | 28 | 26 | 25 | 28 |
No. of mutated clones | ||||||||
nt 2390 C → T† | — | — | — | 2 (6%) | — | — | — | — |
nt 2414 C → T | — | 3 (11%) | 2 (8%) | 1 (3%) | 1 (4%) | — | — | — |
nt 2363 G → A plus nt 2414 C → T | — | 16 (59%) | 7 (27%) | 10 (31%) | 12 (43%) | — | — | — |
nt 2363 G → A | 15 (60%) | 3 (11%) | 6 (23%) | 5 (16%) | — | 10 (38%) | 11 (44%) | — |
Wild-type sequence | 10 (40%) | 5 (19%) | 11 (42%) | 14 (44%) | 15 (53%) | 16 (62%) | 14 (56%) | 28 (100%) |
. | CN . | CN/AML . | During chemotherapy June 1998 . | Complete remission July 1998 . | After BMT August 1999 . | |||
---|---|---|---|---|---|---|---|---|
Time point . | Nov 1989* . | May 1994 . | April 1996 . | March 1998 . | ||||
Sample material | BM gDNA | PB-PMC RNA | PB-MNC RNA | PB-PMC RNA | PB-MNC RNA | PB-PMC RNA | PB-PMC RNA | PB-PMC RNA |
Total number of clones tested (100%) | 25 | 27 | 26 | 32 | 28 | 26 | 25 | 28 |
No. of mutated clones | ||||||||
nt 2390 C → T† | — | — | — | 2 (6%) | — | — | — | — |
nt 2414 C → T | — | 3 (11%) | 2 (8%) | 1 (3%) | 1 (4%) | — | — | — |
nt 2363 G → A plus nt 2414 C → T | — | 16 (59%) | 7 (27%) | 10 (31%) | 12 (43%) | — | — | — |
nt 2363 G → A | 15 (60%) | 3 (11%) | 6 (23%) | 5 (16%) | — | 10 (38%) | 11 (44%) | — |
Wild-type sequence | 10 (40%) | 5 (19%) | 11 (42%) | 14 (44%) | 15 (53%) | 16 (62%) | 14 (56%) | 28 (100%) |