title: Therapy-related acute myeloid leukemia with eosinophilia, basophilia, t(4;14)(q12;q24) and PDGFRA rearrangement: a case report and review of the literature.
abstract: The myeloid and lymphoid neoplasms with eosinophilia and PDGFRA gene rearrangements usually show a good response to Imatinib and are typically associated with a normal karyotype, occasionally exhibiting a secondary chromosomal abnormality associated with clonal evolution. Five variant translocations involving PDGFRA have been reported. Here, we report a rare case of therapy-related acute myeloid leukemia with PDGFRA rearrangement after chemotherapy for prior B lymphoblastic leukemia (B-ALL). The patient had a history of BCR-ABL negative, hypodiploid B-ALL in complete remission after chemotherapy. However, 15 months later the patient developed acute myeloid leukemia with rapidly increasing eosinophilia, basophilia and a complex karyotype that included a novel t(4;14)(q12;q24). FIP1L1 was not associated with the PDGFRA rearrangement. The patient had a very aggressive clinical course, and died from the disease shortly after diagnosis. This is the first case of a primary therapy-related myeloid neoplasm with secondary PDGFRA rearrangement. The t(4:14)(q12;q24) is joining the growing list of the variant translocations involving PDGFRA.
authors.affiliation: Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer Center and Research Institute 12902 Magnolia Drive, Tampa, FL, USA.
authors.forename: Jun
authors.initials: J
authors.lastname: Zhou
authors.affiliation: Cytogenetics Laboratory, Laboratory Corporation of America Research Triangle Park, NC, USA.
authors.forename: Peter
authors.initials: P
authors.lastname: Papenhausen
authors.affiliation: Department of Hematopathology and Laboratory Medicine, H. Lee Moffitt Cancer Center and Research Institute 12902 Magnolia Drive, Tampa, FL, USA.
authors.forename: Haipeng
authors.initials: H
authors.lastname: Shao
mesh_terms: D000368:Aged; D000970:Antineoplastic Agents / Q000009:adverse effects*; D001491:Basophils / Q000187:drug effects* / Q000276:immunology; D014408:Biomarkers, Tumor / Q000235:genetics*; D001856:Bone Marrow Examination; D002883:Chromosomes, Human, Pair 14; D002894:Chromosomes, Human, Pair 4; D018450:Disease Progression; D004802:Eosinophilia / Q000139:chemically induced* / Q000175:diagnosis / Q000276:immunology; D017809:Fatal Outcome; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000139:chemically induced* / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology; D008297:Male; D010641:Phenotype; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis / Q000188:drug therapy*; D020796:Receptor, Platelet-Derived Growth Factor alpha / Q000235:genetics*; D013997:Time Factors; D014178:Translocation, Genetic
chemical_list: D000970:Antineoplastic Agents; D014408:Biomarkers, Tumor; D020796:Receptor, Platelet-Derived Growth Factor alpha
keywords: Acute myeloid leukemia (AML); PDGFRA; basophilia; eosinophilia; therapy-related myeloid neoplasm