title: A novel translocation t(3;22)(q21;q11) involving 3q21 in myelodysplastic syndrome-derived overt leukemia with thrombocytosis.
abstract: We report here a novel translocation t(3;22)(q21;q11) in myelodysplastic syndrome (MDS)-derived overt leukemia with thrombocytosis. A 44-year-old female was initially diagnosed as MDS with a low platelet count and normal karyotype. After 4 months, blood leukemic cells and platelets rapidly increased concomitantly and a diagnosis of acute myeloblastic leukemia (AML M1) was made. Chromosome analysis showed 46, XX, t(3;22)(q21;q11) in 14 of 20 metaphases. Fluorescence in situ hybridization analysis confirmed both the der(3)t(3;22) and the der(22)t(3;22). Our results suggest that unidentified gene(s) at 3q21 breakpoint may be implicated in the pathogenesis of abnormal thrombopoiesis as observed in the 3q21q26 syndrome.
authors.affiliation: Department of Hematology, Musashino Red Cross Hospital, 1-26-1 Kyonan-cho, Musashino, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Yamamoto
authors.forename: K
authors.initials: K
authors.lastname: Nagata
authors.forename: Y
authors.initials: Y
authors.lastname: Tsurukubo
authors.forename: K
authors.initials: K
authors.lastname: Morishita
authors.forename: H
authors.initials: H
authors.lastname: Hamaguchi
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D002892:Chromosomes, Human, Pair 22; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000209:etiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D013922:Thrombocytosis / Q000209:etiology / Q000235:genetics*; D014178:Translocation, Genetic