Atypical Chronic Myeloid Leukemia in Two Pediatric Patients.

TitleAtypical Chronic Myeloid Leukemia in Two Pediatric Patients.
Publication TypeJournal Article
Year of Publication2016
AuthorsFreedman JL, Desai AV, L Bailey C, Aplenc R, Burnworth B, Zehentner BK, Teachey DT, Wertheim G
JournalPediatr Blood Cancer
Date Published2016 Jan

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 disease <6 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. Pediatr Blood Cancer © 2015 Wiley Periodicals, Inc.

Alternate JournalPediatr Blood Cancer
PubMed ID26274939