title: Complex t(2;21;8)(p12;q22;q22): a variant t(8;21) in a patient with acute myeloid leukemia (AML-M2).
abstract: Acute myeloid leukemia with maturation (AML-M2 based on the French-American-British classification) is often accompanied by typical chromosomal changes such as t (8;21)(q22;q22). We report a case of a 31-year-old female with a positive RUNX1/CBFA2T1 (alias AML1/ETO) fusion gene and a karyotype with a t(2;21;8)(p12;q22;q22). Although variant translocations involving chromosome region 2p12 have never been reported before, we suppose this translocation may be responsible for the clinical manifestation and prognosis of this case. The role of this complex variant translocation, as well as the possible formation mechanism, prognostic factors, and morphologic changes are discussed.
authors.affiliation: Hematological Malignancy Treatment Center, Sheng Jing Hospital, China Medical University, Shen Yang, Liao Ning, 110022, China.
authors.forename: Hongtao
authors.initials: H
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Yang
authors.forename: Hui
authors.initials: H
authors.lastname: Shao
authors.forename: Jihong
authors.initials: J
authors.lastname: Zhang
authors.forename: Li
authors.initials: L
authors.lastname: Qi
authors.forename: Aijun
authors.initials: A
authors.lastname: Liao
authors.forename: Yingchun
authors.initials: Y
authors.lastname: Li
authors.forename: Zhuogang
authors.initials: Z
authors.lastname: Liu
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002543:Cerebral Hemorrhage / Q000150:complications; D002889:Chromosomes, Human, Pair 2; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D003561:Cytarabine / Q000008:administration & dosage; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008942:Mitoxantrone / Q000008:administration & dosage; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D000075142:RUNX1 Translocation Partner 1 Protein; D014157:Transcription Factors / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D015514:Oncogene Proteins, Fusion; D011518:Proto-Oncogene Proteins; D000075142:RUNX1 Translocation Partner 1 Protein; C493728:RUNX1 protein, human; C082222:RUNX1T1 protein, human; D014157:Transcription Factors; D003561:Cytarabine; D008942:Mitoxantrone