| Autor: |
Jason L, Freedman, Ami V, Desai, L Charles, Bailey, Richard, Aplenc, Bettina, Burnworth, Barbara K, Zehentner, David T, Teachey, Gerald, Wertheim |
| Rok vydání: |
2015 |
| Předmět: |
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| Zdroj: |
Pediatric bloodcancer. 63(1) |
| ISSN: |
1545-5017 |
| Popis: |
Atypical chronic myeloid leukemia, BCR-ABL1-negative, (aCML) is a rare myeloid neoplasm. Recent adult data suggest the leukemic cells in a subset of patients are dependent on JAK/STAT signaling and harbor CSF3R-activating mutations. We hypothesized that, similar to adult patients, the presence of CSF3R-activating mutations would be clinically relevant in pediatric myeloid neoplasms as patients would be sensitive to the JAK inhibitor, ruxolitinib. We report two cases of morphologically similar pediatric aCML, BCR-ABL1-negative based on WHO 2008 criteria. One patient had CSF3R-activating mutation (T618I) and demonstrated a robust response to ruxolitinib, which was used to bridge to a successful stem cell transplant. The other patient did not have a CSF3R-activating mutation and succumbed to refractory disease6 months from diagnosis. This report documents CSF3R-T618I in pediatric aCML and demonstrates the efficacy of ruxolitinib in a pediatric malignancy. As the third documented case successfully treating aCML with ruxolitinib, this case highlights the importance of prompt CSF3R sequencing analysis for myeloproliferative and myelodysplastic/myeloproliferative neoplasms. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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