title: Translocation (8;12)(q13;p13) during disease progression in acute myelomonocytic leukemia with t(11;19)(q23;p13.1).
abstract: We report here the first case of acute myelomonocytic leukemia (AMMoL) with both t(8;12)(q13;p13) and t(11;19)(q23;p13.1). A 75-year-old woman was initially diagnosed as having AMMoL with t(11;19) (q23;p13) as a sole abnormality. At the second relapse, G-banding analysis of the bone marrow cells showed 46,XX,t(11;19)(q23;p13)/46,XX,t(8;12)(q13;p13),t(11;19)(q23;p13). Fluorescence in situ hybridization analysis with chromosome-specific painting probes confirmed both the der(8)t(8;12) and the der(12)t(8;12). Reverse transcription-polymerase chain reaction analysis detected the MLL/ELL fusion transcript, indicating that the breakpoint on chromosome 19 was 19p13.1. Leukemic cells at the second relapse were positive for CD2, CD13, CD33, and CD34 but negative for CD14 and HLA-DR. The patient died within 2 months after a subclone with t(8;12)(q13;p13) had appeared. In the literature, t(8;12)(q12;p13) has been observed in two cases of myelodysplastic syndrome and one case of acute myeloblastic leukemia. Our results indicated that t(8;12)(q13;p13) may be one of the recurrent aberrations in myeloid malignancies, although molecular heterogeneity of the breakpoints might exist. Furthermore, it is suggested that t(8;12)(q13;p13) may play an important role in the progression of the disease and lead to the poor prognosis.
authors.affiliation: Department of Hematology, Musashino Red Cross Hospital, 1-26-1 Kyonan-cho, Musashino, 180-8610, Tokyo, Japan.
authors.forename: Katsuya
authors.initials: K
authors.lastname: Yamamoto
authors.forename: Kaoru
authors.initials: K
authors.lastname: Nagata
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Tsurukubo
authors.forename: Koichi
authors.initials: K
authors.lastname: Inagaki
authors.forename: Ryoichi
authors.initials: R
authors.lastname: Ono
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Taki
authors.forename: Yasuhide
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Hamaguchi
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002881:Chromosomes, Human, Pair 12; D002888:Chromosomes, Human, Pair 19; D002898:Chromosomes, Human, Pair 8; D017931:DNA Primers; D004268:DNA-Binding Proteins / Q000235:genetics; D018450:Disease Progression; D005091:Exons; D005260:Female; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015479:Leukemia, Myelomonocytic, Acute / Q000235:genetics* / Q000473:pathology; D008969:Molecular Sequence Data; D051788:Myeloid-Lymphoid Leukemia Protein; D009363:Neoplasm Proteins; D010445:Peptide Elongation Factors; D016133:Polymerase Chain Reaction; D011519:Proto-Oncogenes; D011993:Recombinant Fusion Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014158:Transcription, Genetic; D035602:Transcriptional Elongation Factors; D014178:Translocation, Genetic; D016335:Zinc Fingers
chemical_list: D017931:DNA Primers; D004268:DNA-Binding Proteins; C090862:ELL protein, human; C497422:KMT2A protein, human; D009363:Neoplasm Proteins; D010445:Peptide Elongation Factors; D011993:Recombinant Fusion Proteins; D014157:Transcription Factors; D035602:Transcriptional Elongation Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase