Recognized gene defects, gene polymorphisms, and karyotype abnormalities in patients with (systemic) mastocytosis.
| Finding . | Reported in Patients with: . | Estimated Frequency in Patients with SM . |
|---|---|---|
| Abbreviations: CM, cutaneous mastocytosis; SM, systemic mastocytosis; SM-AHNMD, SM with an associated hematologic clonal non-mast cell lineage disease; HES, hypereosinophilic syndrome; n.k., not known | ||
| Gene defects | ||
| c-kit D816V | all variants of SM (rarely in CM) | > 80% |
| c-kit D816Y | CM, SM, SM-AHNMD | < 5% |
| c-kit D816F | CM, SM | < 5% |
| c-kit D816H | SM-AHNMD | < 5% |
| c-kit D820G | ASM | < 5% |
| c-kit V560G | SM | < 5% |
| c-kit F522C | SM | < 5% |
| c-kit E839K | CM | < 5% |
| c-kit V530I | SM-AML | < 5% |
| c-kit K509I | SM (familial type) | < 5% |
| FIP1L1/PDGFRA | SM-HES, SM with eosinophilia | < 5% |
| Gene polymorphisms | ||
| IL-4Rα Q576R | CM, indolent SM (ISM) | n.k. |
| Karyotype abnormalities | ||
| del 20(q12) | SM, SM-AHNMD | < 5% |
| +9 | SM, SM-AHNMD | < 5% |
| t(8;21) | SM-AML M2 | < 5% |
| Finding . | Reported in Patients with: . | Estimated Frequency in Patients with SM . |
|---|---|---|
| Abbreviations: CM, cutaneous mastocytosis; SM, systemic mastocytosis; SM-AHNMD, SM with an associated hematologic clonal non-mast cell lineage disease; HES, hypereosinophilic syndrome; n.k., not known | ||
| Gene defects | ||
| c-kit D816V | all variants of SM (rarely in CM) | > 80% |
| c-kit D816Y | CM, SM, SM-AHNMD | < 5% |
| c-kit D816F | CM, SM | < 5% |
| c-kit D816H | SM-AHNMD | < 5% |
| c-kit D820G | ASM | < 5% |
| c-kit V560G | SM | < 5% |
| c-kit F522C | SM | < 5% |
| c-kit E839K | CM | < 5% |
| c-kit V530I | SM-AML | < 5% |
| c-kit K509I | SM (familial type) | < 5% |
| FIP1L1/PDGFRA | SM-HES, SM with eosinophilia | < 5% |
| Gene polymorphisms | ||
| IL-4Rα Q576R | CM, indolent SM (ISM) | n.k. |
| Karyotype abnormalities | ||
| del 20(q12) | SM, SM-AHNMD | < 5% |
| +9 | SM, SM-AHNMD | < 5% |
| t(8;21) | SM-AML M2 | < 5% |