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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.
AuthorsKatsuya Yamamoto, Akiko Sada, Yuko Kawano, Yoshio Katayama, Manabu Shimoyama, Toshimitsu Matsui
JournalCancer genetics and cytogenetics (Cancer Genet Cytogenet) Vol. 201 Issue 2 Pg. 122-7 (Sep 2010) ISSN: 1873-4456 [Electronic] United States
PMID20682397 (Publication Type: Case Reports, Journal Article)
Copyright2010 Elsevier Inc. All rights reserved.
Chemical References
  • Antineoplastic Agents
  • Core Binding Factor Alpha 2 Subunit
  • RUNX1 protein, human
Topics
  • Adult
  • Antineoplastic Agents (therapeutic use)
  • Antineoplastic Combined Chemotherapy Protocols (adverse effects)
  • Chromosomes, Human, Pair 1
  • Chromosomes, Human, Pair 21
  • Core Binding Factor Alpha 2 Subunit (genetics)
  • Fatal Outcome
  • Flow Cytometry
  • Gene Rearrangement
  • Humans
  • Immunophenotyping
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myeloid, Acute (chemically induced, diagnosis, genetics)
  • Male
  • Neoplasms, Second Primary (chemically induced, diagnosis, genetics)

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