CSF3R and RAS mutations and cytogenetic aberrations in patients with CN and secondary malignancies
| Patient ID . | CN mutations* . | Malignancy . | Chromosomal aberrations . | CSF3R mutations . | RAS mutations . |
|---|---|---|---|---|---|
| This study | |||||
| 1 | ELANE | AML | 46,XX,t(p1;q3); elongation of 5q | p.Q731X | — |
| 2 | No | AML | 46,XY,t(6;19),(q112,q13) | p.Q731X | — |
| 3 | ELANE | AML | 46,XY,−7,+21 | P.Q731X | — |
| 4 | ELANE | AML | 46,XX / 45XX,−7 in 1 clone / 92,XXXX in 1 clone | p.Q707X, p.Q718X, p.Q726X, p.Q729X | — |
| 5 | ELANE | AML | 47,XX,+8 | p.Q716X, p.Q718X, p.Q726X, p.Q729X | — |
| 6 | ELANE | MDS (AML) | 47,XX,5q−,+21 | p.Q726X, p.Q731X | — |
| 7 | ELANE | ALL | 46,XX,der(2)t(2;3)(q37;q21, del(5)(q13q33)[8]/46,XX[7] | p.Q718X, p.Q726X | — |
| 8 | HAX1 | ALL | ND | p.K762X | — |
| 9† | No | CMML | 45,XY,−7 | p.Q718X, p.Q762X | NRAS, p.G13R |
| 10 | ELANE | AML | 45,XX,−7 | — | KRAS, p.Q61P |
| 11 | ELANE | AML | 46,XX, der(7)t(3;7)(?;p22) | — | — |
| 12 | ELANE | AML | 46,XY,t(9;11) | — | — |
| 13 | No | AML | 45,XX,−7 | — | — |
| 14 | ELANE | AML | ND | — | — |
| 15 | ELANE | MDS (RAEB) | ND | — | — |
| Patients from Kalra et al5 | |||||
| 6/F | ND | AML | 46,XX / 45,XX, −7 | — | NRAS, p.G12D |
| 7/F | ND | AML | 46,XX, −7,+(del)(20q) | — | NRAS, p.G12D |
| 8/F | ND | AML | 46,XX / 47,XX,+mar | — | NRAS, p.G12D |
| Patient ID . | CN mutations* . | Malignancy . | Chromosomal aberrations . | CSF3R mutations . | RAS mutations . |
|---|---|---|---|---|---|
| This study | |||||
| 1 | ELANE | AML | 46,XX,t(p1;q3); elongation of 5q | p.Q731X | — |
| 2 | No | AML | 46,XY,t(6;19),(q112,q13) | p.Q731X | — |
| 3 | ELANE | AML | 46,XY,−7,+21 | P.Q731X | — |
| 4 | ELANE | AML | 46,XX / 45XX,−7 in 1 clone / 92,XXXX in 1 clone | p.Q707X, p.Q718X, p.Q726X, p.Q729X | — |
| 5 | ELANE | AML | 47,XX,+8 | p.Q716X, p.Q718X, p.Q726X, p.Q729X | — |
| 6 | ELANE | MDS (AML) | 47,XX,5q−,+21 | p.Q726X, p.Q731X | — |
| 7 | ELANE | ALL | 46,XX,der(2)t(2;3)(q37;q21, del(5)(q13q33)[8]/46,XX[7] | p.Q718X, p.Q726X | — |
| 8 | HAX1 | ALL | ND | p.K762X | — |
| 9† | No | CMML | 45,XY,−7 | p.Q718X, p.Q762X | NRAS, p.G13R |
| 10 | ELANE | AML | 45,XX,−7 | — | KRAS, p.Q61P |
| 11 | ELANE | AML | 46,XX, der(7)t(3;7)(?;p22) | — | — |
| 12 | ELANE | AML | 46,XY,t(9;11) | — | — |
| 13 | No | AML | 45,XX,−7 | — | — |
| 14 | ELANE | AML | ND | — | — |
| 15 | ELANE | MDS (RAEB) | ND | — | — |
| Patients from Kalra et al5 | |||||
| 6/F | ND | AML | 46,XX / 45,XX, −7 | — | NRAS, p.G12D |
| 7/F | ND | AML | 46,XX, −7,+(del)(20q) | — | NRAS, p.G12D |
| 8/F | ND | AML | 46,XX / 47,XX,+mar | — | NRAS, p.G12D |
Shown are results of the present study and results of CSF3R mutation analysis in CN patients with MDS/leukemia and RAS mutations described by Kalra et al.5 Material from 3 of 5 patients originally described by Kalra et al was made available for retrospective analysis of CSF3R mutations.
ALL indicates acute lymphocytic leukemia; AML, acute myeloid leukemia; CMML, chronic myelomonocytic leukemia ; CN, severe congenital neutropenia; —, no mutation; and ND, not determined.
CN candidate genes in which mutations have been detected are listed in this column. No indicates no mutation in ELANE or HAX1 genes.
This patient has been described in detail in an earlier publication.8