title: Therapy-related, mixed phenotype acute leukemia with t(1;21)(p36;q22) and RUNX1 rearrangement.
abstract: We describe here a new case of therapy-related acute leukemia with t(1;21)(p36;q22). A 25-year-old man was admitted because of anemia and thrombocytopenia. Four years before, he had received combination chemotherapy including etoposide for seminoma. Bone marrow was hypercellular, with 49% myeloperoxidase (MPO) staining-negative blasts. Chromosome analysis showed 46,XY,t(1;21)(p36.3;q22)[11]/49,sl,+8,+16,+20[9]. Fluorescence in situ hybridization demonstrated that RUNX1 signals at 21q22 were split onto the der(1)t(1;21) and der(21)t(1;21). Immunophenotypic analyses revealed that blasts were positive for CD19, CD79a, and cytCD22, as well as MPO, CD13, and CD33, fulfilling the diagnostic criteria of mixed phenotype acute leukemia, B/myeloid. The patient died of disease progression after 10 months. Thus, acute leukemia with t(1;21) and RUNX1 rearrangement could be associated with B/myeloid mixed phenotype as well as previous topoisomerase II inhibitor therapy and poor prognoses.
authors.affiliation: Department of Medicine, Kobe University Graduate School of Medicine, Chuo-ku, Japan. kyamamo@med.kobe-u.ac.jp
authors.forename: Katsuya
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Akiko
authors.initials: A
authors.lastname: Sada
authors.forename: Yuko
authors.initials: Y
authors.lastname: Kawano
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Katayama
authors.forename: Manabu
authors.initials: M
authors.lastname: Shimoyama
authors.forename: Toshimitsu
authors.initials: T
authors.lastname: Matsui
mesh_terms: D000328:Adult; D000970:Antineoplastic Agents / Q000627:therapeutic use; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000009:adverse effects; D002878:Chromosomes, Human, Pair 1; D002891:Chromosomes, Human, Pair 21; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D017809:Fatal Outcome; D005434:Flow Cytometry; D015321:Gene Rearrangement; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D016609:Neoplasms, Second Primary / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics*
chemical_list: D000970:Antineoplastic Agents; D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human