title: Extramedullary presentation of chronic myelogenous leukemia with p190 BCR/ABL transcripts.
abstract: We present here a rare case of Philadelphia chromosome (Ph)-positive chronic myelogenous leukemia having p190 BCR/ABL with a malignant clinical picture of extramedullary blast crisis at onset, followed by rapid evolution to bone-marrow blast crisis. The patient was a 44-year-old woman presenting with leukocytosis and multiple lymph-node swelling in the neck. Lymph-node biopsy revealed a myeloperoxidase-positive blastoma with cell-surface markers of myeloid and T-lymphoid lineages. Fluorescence in situ hybridization and the reverse transcription polymerase chain reaction detected a minor BCR breakpoint but failed to detect a major BCR breakpoint. By single-strand conformation polymorphism and direct sequencing, no alteration in the TP53 gene was found, and no additional chromosomal abnormalities other than Ph were identified. The present case suggests that p190 BCR/ABL is associated with the aggressive course of the disease.
authors.affiliation: Department of Internal Medicine, Nippon Medical School, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Yamaguchi
authors.forename: K
authors.initials: K
authors.lastname: Inokuchi
authors.forename: T
authors.initials: T
authors.lastname: Shinohara
authors.forename: K
authors.initials: K
authors.lastname: Dan
mesh_terms: D000328:Adult; D001752:Blast Crisis / Q000235:genetics*; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D008207:Lymphatic Metastasis; D016133:Polymerase Chain Reaction
chemical_list: D016044:Fusion Proteins, bcr-abl