Table A2.
Disease Phenotype of Patients With Cbl Family Mutations
| Diagnosis |
Cbl Family Variants |
|||
|---|---|---|---|---|
| All Cbl Family | c-Cbl | Cbl-b | Cbl-c* | |
| MDS/MPN to sAML | 6 of 36 | 5 | 1 | 0 |
| MDS/MPNu | 3 of 39 | 1 | 1 | 1 |
| CMML | 2 of 38 | 2 | 0 | 0 |
| JMML | 5 of 21 | 4 | 0 | 1 |
| MDS to sAML | 6 of 64 | 4 | 1 | 1† |
| RAEB | 1 of 38 | 1 | 0 | 0 |
| Low-grade MDS | 0 of 77 | 0 | 0 | 0 |
| MPN to sAML | 1 of 10 | 1 | 0 | 0 |
| MPN | 0 of 12 | 0 | 0 | 0 |
| CML blast crisis | 2 of 10 | 1 | 1 | 0 |
| CBF pAML | 0 of 27 | 0 | 0 | 0 |
| Non-CBF pAML | 1 of 70 | 0 | 0 | 1 |
| Total | 27 of 442 | 19 | 4 | 4 |
Abbreviations: MDS, myelodysplastic syndrome; MPN, myeloproliferative neoplasms; sAML, secondary acute myelogenous leukemia; MPNu, MPN unclassifiable; CMML, chronic myelomonocytic leukemia; JMML, juvenile myelomonocytic leukemia; RAEB, refractory anemia with excess blasts; CBF, core binding factor; pAML, primary acute myelogenous leukemia.
*
Cbl-c frame shift polymorphism. Cbl-c gene is not known to be expressed in myeloid malignancies.
†
Cell line from a patient with secondary AML (sAML).