title: Persistence of derivative chromosome 22 after achieving a major molecular response in chronic myeloid leukemia with a cryptic BCR-ABL1 fusion gene.
abstract: We herein report the findings of a 47-year-old Japanese female with chronic myeloid leukemia (CML) with a cryptic BCR-ABL1 transcript on chromosome 9 and a derivative chromosome 22 unrelated to BCR-ABL1. Although she achieved and continued to demonstrate a major molecular response to imatinib treatment following interferon-alpha, there was persistence of a derivative chromosome 22. A detailed chromosome/molecular studies, including serial karyotyping analysis, finally resulted in the karyotyping at the disease onset to be 47,XX,+del(22)(q11.2), with two genetic evens, namely a cryptic BCR-ABL1 transcript on chromosome 9 and derivative chromosome 22 unrelated to BCR-ABL1. This CML case with these two rare genetic events thus raises diagnostic issues such as the difficulty in making a concise evaluation of the chromosomal/molecular events and an accurate disease prognosis, as well as the difficulty in determining the disease remission status after treatment.
authors.affiliation: Department of Laboratory Medicine, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan. hmatsu@is.icc.u-tokai.ac.jp.
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Matsushita
authors.affiliation: Clinical Laboratory, Tokai University Hospital, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
authors.forename: Atsuko
authors.initials: A
authors.lastname: Masukawa
authors.affiliation: Clinical Laboratory, Tokai University Hospital, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Arakawa
authors.affiliation: Department of Hematology/Oncology, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Ogawa
authors.affiliation: Department of Laboratory Medicine, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
authors.forename: Satomi
authors.initials: S
authors.lastname: Asai
authors.affiliation: Department of Laboratory Medicine, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
authors.forename: Miharu
authors.initials: M
authors.lastname: Yabe
authors.affiliation: Department of Hematology/Oncology, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Ando
authors.affiliation: Department of Laboratory Medicine, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
authors.forename: Hayato
authors.initials: H
authors.lastname: Miyachi
mesh_terms: D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000188:drug therapy / Q000235:genetics*; D008875:Middle Aged; D012074:Remission Induction
chemical_list: D016044:Fusion Proteins, bcr-abl