title: Coexistence of inversion 16 and the Philadelphia chromosome comprising P190 BCR/ABL in chronic myeloid leukemia blast crisis.
abstract: A 63-year-old woman presented with leukocytosis (278 × 10(9)/L) with 72% blasts. Bone marrow blast cells showed cytogenetic abnormality with 46,XX, t(9;22), inv(16). Despite achievement of hematological remission by induction chemotherapy, Philadelphia chromosome did not disappear; chronic myeloid leukemia (CML) in blast crisis (BC) was thus diagnosed. The P190 BCR/ABL fusion transcript was detected. Imatinib mesylate introduced a hematological remission of short duration; however, infiltration into the central nervous system occurred, and the patient died 7 months after presentation. Coexistence of inv(16) and t(9:22) has been described in CML-BC and de novo AML, and CML-BC patients always carry P210 BCR/ABL, while de novo AML patients usually have P190 BCR/ABL. To the best of our knowledge, this is the first report of CML-BC with inv(16) and P190 BCR/ABL. We discuss this case with reference to the literature.
authors.affiliation: First Department of Internal Medicine, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan.
authors.forename: Soranobu
authors.initials: S
authors.lastname: Ninomiya
authors.affiliation: First Department of Internal Medicine, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan.
authors.forename: Nobuhiro
authors.initials: N
authors.lastname: Kanemura
authors.affiliation: First Department of Internal Medicine, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan. htsuru@gifu-u.ac.jp.
authors.forename: Hisashi
authors.initials: H
authors.lastname: Tsurumi
authors.affiliation: First Department of Internal Medicine, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan.
authors.forename: Senji
authors.initials: S
authors.lastname: Kasahara
authors.affiliation: First Department of Internal Medicine, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Hara
authors.affiliation: First Department of Internal Medicine, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan.
authors.forename: Toshiki
authors.initials: T
authors.lastname: Yamada
authors.affiliation: First Department of Internal Medicine, Gifu University Graduate School of Medicine, 1-1 Yanagido, Gifu, 501-1194, Japan.
authors.forename: Hisataka
authors.initials: H
authors.lastname: Moriwaki
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D001752:Blast Crisis / Q000235:genetics*; D001853:Bone Marrow / Q000473:pathology; D002871:Chromosome Banding; D007446:Chromosome Inversion / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology*; D008875:Middle Aged; D010677:Philadelphia Chromosome; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D000970:Antineoplastic Agents; D012333:RNA, Messenger; D016044:Fusion Proteins, bcr-abl