title: A novel variant three-way translocation of inversion 16 in a case of AML-M4eo following low dose methotrexate therapy.
abstract: We report a case of acute myelomonocytic leukemia with eosinophilia (AML-M4eo) in a 65-year-old man following low dose methotrexate treatment for pemphigus vulgaris. Cytogenetic studies at diagnosis revealed a complex karyotype including a reciprocal translocation between 11q14.2 and 16q22, an inversion of chromosome 16(p13.1q22), and an apparently terminal deletion of 7q31. The presence of inv(16) was confirmed by reverse transcription-polymerase chain reaction which demonstrated a Type A fusion transcript derived from the core binding factor (CBF) beta and the smooth muscle myosin heavy chain (MYH11) genes. The patient was in complete hematologic and cytogenetic remission 6 months following intensive chemotherapy. Because AML-M4eo with inv(16) has a favorable prognosis, molecular studies should be performed in case the identification of inv(16) by conventional cytogenetics is difficult due to a complex karyotype.
authors: Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
authors: S
authors: S
authors: Li
authors: R J
authors: RJ
authors: Couzi
authors: G H
authors: GH
authors: Thomas
authors: A D
authors: AD
authors: Friedman
authors: M J
authors: MJ
authors: Borowitz
mesh_terms: D000368:Aged; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001483:Base Sequence; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16; D017931:DNA Primers; D006801:Humans; D015479:Leukemia, Myelomonocytic, Acute / Q000139:chemically induced / Q000188:drug therapy* / Q000235:genetics*; D008297:Male; D008727:Methotrexate / Q000008:administration & dosage / Q000009:adverse effects*; D010392:Pemphigus / Q000150:complications / Q000188:drug therapy; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D017931:DNA Primers; D008727:Methotrexate