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The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth factor receptor B (PDGFRB) gene. We report a case of a rare PDGFRB rearrangement with SPTNB1 (spectrin beta, nonerythrocytic 1) that presented as atypical myeloproliferative neoplasm.
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http://dx.doi.org/10.1186/s13039-018-0405-1 | DOI Listing |
J Clin Med
July 2025
Department of Pathology and Laboratory Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Greenvale, NY 11548, USA.
Genetic alterations in , typically associated with chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML), rarely occur in other myeloid neoplasms. This study characterized the clinical, morphologic, cytogenetic, and molecular features of 13 patients with non-CNL non-aCML myeloid neoplasms with alterations. Patients (median age, 77 years) were categorized into groups with a myelodysplastic/myeloproliferative neoplasm (MDS/MPN) (n = 5), acute leukemia (n = 4), and other myeloid neoplasms (n = 4) based on the WHO 2022 and ICC criteria.
View Article and Find Full Text PDFCureus
June 2025
Hematology Oncology, St. Vincent's Medical Center, Toledo, USA.
Myelofibrosis is a chronic myeloproliferative neoplasm (CMN) characterized by bone marrow fibrosis, splenomegaly, cytopenias, or cytoses, and a propensity for transformation into acute myeloid leukemia (AML). Transformation of myelofibrosis into chronic myeloid leukemia (CML), however, is extremely rare and poorly understood. CML is typically defined by the presence of the BCR-ABL1 fusion gene, a product of the Philadelphia chromosome t(9;22)(q34;q11), which leads to constitutive activation of a tyrosine kinase that drives leukemogenesis.
View Article and Find Full Text PDFSci Rep
July 2025
Department of Hematology and Oncology, University Hospital Mannheim, Heidelberg University, Mannheim, Germany.
Diagnosis and treatment of chronic myeloid neoplasms with two concurrently present driver mutations is challenging. We report on 10 JAK2 V617F/BCR::ABL1 patients in whom both mutations were identified simultaneously in 5/10 (50%) patients or in whom BCR::ABL1 appeared a median of 14 years after the primary diagnosis of JAK2 V617F myeloproliferative neoplasia (MPN) in the remaining 5 patients. Granulocyte-macrophage colony-forming unit (CFU-GM) analysis demonstrated subsequent acquisition of BCR::ABL1 in a pre-existing JAK2 V617F clone in 8/9 (89%) of evaluable patients.
View Article and Find Full Text PDFExpert Rev Hematol
June 2025
K.G. Jebsen Center for Myeloid Malignancies, University of Bergen, Bergen, Norway.
Background: Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) result from clonal proliferation of hematopoietic stem cells, and include polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). Key driver mutations in the , , and genes are important for diagnosis and differentiation of triple-negative cases. The gene, particularly exon 10, harbors mutation hotspots influencing pathogenesis and prognosis.
View Article and Find Full Text PDFFront Pediatr
May 2025
Department of Neonatology and Rare Diseases, Medical University of Warsaw, Warsaw, Poland.
Background: Transient myeloproliferative disorder is a clonal myeloproliferative syndrome that occurs in the presence of mutations in the GATA1 gene and chromosome 21 trisomy. It affects almost exclusively newborns with Down syndrome and usually resolves spontaneously. Neonatal leukemia is a rare childhood disease.
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