{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T07:53:14Z","timestamp":1780559594710,"version":"3.54.1"},"reference-count":18,"publisher":"Harborside Press, LLC","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:p>A 66-year-old male presented with hypereosinophilia, thrombocytosis, extensive thrombosis refractory to direct oral anticoagulant therapy, and evidence of end-organ damage, including rash, splenic infarcts, and pulmonary infiltrates. Bone marrow biopsy revealed myeloid malignancy consistent with both chronic eosinophilic leukemia and myelodysplastic\/myeloproliferative neoplasms (MDS\/MPN) with <jats:italic>SF3B1<\/jats:italic> mutation and thrombocytosis. Next-generation sequencing of the patient\u2019s eosinophils and neutrophil compartments revealed pathologic variants in <jats:italic>EZH2<\/jats:italic> and <jats:italic>SF3B1<\/jats:italic> in addition to a noncanonical <jats:italic>JAK2<\/jats:italic> R683S mutation that has not been previously described in myeloproliferative disorders or other chronic myeloid neoplasms. These mutations were not present in the patient\u2019s lymphoid cell fraction, suggesting that the hematopoietic malignancy arose in a myeloid-committed progenitor cell. Based on this case and previous work from our group, we propose that noncanonical <jats:italic>JAK2<\/jats:italic> mutations may permit signal transduction that biases toward eosinophilic differentiation in chronic myeloid neoplasms. Although the patient\u2019s blood counts initially responded to ruxolitinib and hydroxyurea, the response was not durable. Early referral for allogenic bone marrow transplant appears necessary to prevent long-term complications and disease progression in myeloid neoplasms with clonal hypereosinophilia driven by noncanonical <jats:italic>JAK2<\/jats:italic> mutations.<\/jats:p>","DOI":"10.6004\/jnccn.2023.7068","type":"journal-article","created":{"date-parts":[[2023,12,11]],"date-time":"2023-12-11T20:47:32Z","timestamp":1702327652000},"page":"1218-1223","source":"Crossref","is-referenced-by-count":5,"title":["JAK2 R683S Mutation Resulting in Dual Diagnoses of Chronic Eosinophilic Leukemia and Myelodysplastic\/Myeloproliferative Overlap Syndrome"],"prefix":"10.6004","volume":"21","author":[{"given":"Nathan M.","family":"Krah","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, University of Utah, Salt Lake City, Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Miotke","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Utah, Salt Lake City, Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Li","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology, University of Utah, Salt Lake City, Utah"},{"name":"Genomics Laboratory, ARUP Laboratories, Salt Lake City, Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay L.","family":"Patel","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Department of Pathology, University of Utah, Salt Lake City, Utah"},{"name":"Genomics Laboratory, ARUP Laboratories, Salt Lake City, Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anneli R.","family":"Bowen","sequence":"additional","affiliation":[{"name":"Department of Dermatology, University of Utah, Salt Lake City, Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony D.","family":"Pomicter","sequence":"additional","affiliation":[{"name":"Division of Hematology Biorepository, Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ami B.","family":"Patel","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, University of Utah, Salt Lake City, Utah"},{"name":"Division of Hematology and Hematologic Malignancies, University of Utah, Salt Lake City, Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"4047","reference":[{"key":"B1","series-title":"Leukemia","first-page":"1703","article-title":"The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: myeloid and histiocytic\/dendritic neoplasms","volume":"36","author":"Khoury JD","year":"2022","unstructured":"Khoury JD, Solary E, Abla O,  The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: myeloid and histiocytic\/dendritic neoplasms. 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