{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T00:48:32Z","timestamp":1776127712255,"version":"3.50.1"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,8,14]],"date-time":"2015-08-14T00:00:00Z","timestamp":1439510400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>Atypical chronic myeloid leukemia, <jats:italic>BCR\u2010ABL1<\/jats:italic>\u2010negative, (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<jats:italic>\u2010<\/jats:italic>activating mutations. We hypothesized that, similar to adult patients, the presence of CSF3R\u2010activating 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, <jats:italic>BCR\u2010ABL1<\/jats:italic>\u2010negative based on WHO 2008 criteria. One patient had CSF3R\u2010activating 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\u2010activating mutation and succumbed to refractory disease &lt;6 months from diagnosis. This report documents CSF3R\u2010T618I 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 <jats:italic>CSF3R<\/jats:italic> sequencing analysis for myeloproliferative and myelodysplastic\/myeloproliferative neoplasms. Pediatr Blood Cancer \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.25694","type":"journal-article","created":{"date-parts":[[2015,8,14]],"date-time":"2015-08-14T16:15:55Z","timestamp":1439568955000},"page":"156-159","source":"Crossref","is-referenced-by-count":21,"title":["Atypical Chronic Myeloid Leukemia in Two Pediatric Patients"],"prefix":"10.1002","volume":"63","author":[{"given":"Jason L.","family":"Freedman","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Oncology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ami V.","family":"Desai","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Oncology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L. Charles","family":"Bailey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Oncology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Aplenc","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Oncology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bettina","family":"Burnworth","sequence":"additional","affiliation":[{"name":"HematoLogics, Inc. Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara K.","family":"Zehentner","sequence":"additional","affiliation":[{"name":"HematoLogics, Inc. Seattle Washington"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David T.","family":"Teachey","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Oncology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"},{"name":"Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerald","family":"Wertheim","sequence":"additional","affiliation":[{"name":"Department of Pathology The Children's Hospital of Philadelphia Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,8,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-02-553800"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2008.119"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/bmt.2014.35"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-05-500959"},{"key":"e_1_2_5_6_1","volume-title":"WHO classification of tumours of haematopoietic and lymphoid tissues","author":"Swerdlow SH","year":"2008"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminoncol.2011.11.004"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1008393002748"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2495"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1214514"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12185-013-1381-1"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2013-06-509976"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pbc.25575"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1590\/S1516-31801997000600004"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830220408"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V64.1.1.1"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01707281"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2014-06-579466"},{"key":"e_1_2_5_19_1","unstructured":"Committee for Medicinal Products for Human Use Assessment Report: Jakavi (International non\u2010proprietary name: Ruxolitinib).http:\/\/www.ema.europa.eu\/docs\/en_GB\/document_library\/EPAR_\u2010_Public_assessment_report\/human\/002464\/WC500133226.pdf. 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