title: Acute myeloid leukemia with t(3;21)(q13;q22), a novel simple variant of the 21q22/RUNX1 translocation.
abstract: A 69-year-old man diagnosed with leukocytosis was referred to our hospital in July 201X. The patient was diagnosed as having a myelodysplastic/myeloproliferative neoplasm. However, he presented with leukemia 2 months later. Chromosomal analysis of a bone marrow sample documented that this patient had a normal karyotype. The patient was successfully treated with idarubicin and cytarabine, and he underwent three courses of consolidation therapy. However, he suffered a relapse in May of the following year. A cytogenetic analysis revealed the presence of a t (3;21) (q13;q22) translocation, and fluorescence in situ hybridization of metaphase spreads detected three signals corresponding to the runt related transcription factor 1 (RUNX1) on the derivative chromosomes 3 and 21, besides the normal chromosome 21. Chromosomal translocations in leukemia often involve genes encoding transcription factors, and the RUNX1 is a common target for such translocations. To the best of our knowledge, this is a novel variant of the RUNX1 translocation. Identifying genes associated with translocations in leukemia contributes to novel insights into the mechanisms of disease progression and chemotherapy resistance and also facilitates the development of molecularly targeted therapies.
authors.affiliation: Department of Internal Medicine, Division of Hematology and Oncology, St. Marianna University School of Medicine.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Tsuruoka
authors.forename: Hirotaka
authors.initials: H
authors.lastname: Sakai
authors.forename: Akiko
authors.initials: A
authors.lastname: Uchida
authors.forename: Yu
authors.initials: Y
authors.lastname: Uemura
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Sato
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yokoi
authors.forename: Yuji
authors.initials: Y
authors.lastname: Nishio
authors.forename: Manabu
authors.initials: M
authors.lastname: Matsunawa
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Yasushi
authors.initials: Y
authors.lastname: Isobe
authors.forename: Masayuki
authors.initials: M
authors.lastname: Kato
authors.forename: Naoto
authors.initials: N
authors.lastname: Tomita
authors.forename: Yasuyuki
authors.initials: Y
authors.lastname: Inoue
authors.forename: Ikuo
authors.initials: I
authors.lastname: Miura
mesh_terms: D000368:Aged; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002891:Chromosomes, Human, Pair 21; D002893:Chromosomes, Human, Pair 3; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; C493728:RUNX1 protein, human