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A novel t(8;18)(q13;q21) in acute monocytic leukemia evolving from constitutional trisomy 8 mosaicism. 2007

Katsuya Yamamoto, and Atsuo Okamura, and Hiroki Kawano, and Yoshio Katayama, and Manabu Shimoyama, and Toshimitsu Matsui
Hematology/Oncology, Department of Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe 650-0017, Japan.

Constitutional trisomy 8 mosaicism (CT8M) has been considered to be the first mutation in multistep carcinogenesis. We describe the case of a 38-year-old woman with a normal phenotype who developed to acute monocytic leukemia with a novel t(8;18)(q13;q21). Chromosome analysis and spectral karyotyping showed 47,XX,+8,t(8;18)(q13;q21)[20]. Fluorescence in situ hybridization (FISH) demonstrated that the breakpoint at 18q21 was centromeric to the MALT1 and BCL2 genes. FISH also revealed that trisomy 8 was detected in buccal mucosa cells, indicating that trisomy 8 was a constitutional abnormality. These results suggest that t(8;18)(q13;q21) had a crucial role in the development of leukemia as the second mutation following CT8M.

UI MeSH Term Description Entries
D007948 Leukemia, Monocytic, Acute An acute myeloid leukemia in which 80% or more of the leukemic cells are of monocytic lineage including monoblasts, promonocytes, and MONOCYTES. Leukemia, Monoblastic, Acute,Leukemia, Myeloid, Acute, M5,Leukemia, Myeloid, Schilling-Type,Monoblastic Leukemia, Acute,Monocytic Leukemia, Acute,Myeloid Leukemia, Acute, M5,Myeloid Leukemia, Schilling-Type,Leukemia, Acute Monocytic,Leukemia, Myeloid, Schilling Type,Acute Monoblastic Leukemia,Acute Monoblastic Leukemias,Acute Monocytic Leukemia,Acute Monocytic Leukemias,Leukemia, Schilling-Type Myeloid,Leukemias, Acute Monoblastic,Leukemias, Acute Monocytic,Monoblastic Leukemias, Acute,Monocytic Leukemias, Acute,Myeloid Leukemia, Schilling Type,Schilling-Type Myeloid Leukemia
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D002887 Chromosomes, Human, Pair 18 A specific pair of GROUP E CHROMOSOMES of the human chromosome classification. Chromosome 18
D002898 Chromosomes, Human, Pair 8 A specific pair of GROUP C CHROMOSOMES of the human chromosome classification. Chromosome 8
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D014178 Translocation, Genetic A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome. Chromosomal Translocation,Translocation, Chromosomal,Chromosomal Translocations,Genetic Translocation,Genetic Translocations,Translocations, Chromosomal,Translocations, Genetic
D014314 Trisomy The possession of a third chromosome of any one type in an otherwise diploid cell. Partial Trisomy,Chromosomal Triplication,Chromosomal Triplications,Partial Trisomies,Trisomies,Trisomies, Partial,Trisomy, Partial
D032681 Spectral Karyotyping The simultaneous identification of all chromosomes from a cell by fluorescence in situ hybridization (IN SITU HYBRIDIZATION, FLUORESCENCE) with chromosome-specific florescent probes that are discerned by their different emission spectra. Karyotyping, Spectral,Karyotypings, Spectral,Spectral Karyotypings

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