title: A case of atypical myelodysplastic syndrome with micromegakaryocytes, normal platelet count, and t(3;12)(q21;p13) with inv(3)(q21q26).
abstract: A 49-year-old woman patient with atypical myelodysplastic syndrome (MDS) showing a der(3)t(3;12)(q21;p13), and der(12)t(3;12)(q21;p13)inv(3)(q21q26) as an acquired chromosomal abnormality in the bone marrow is described. The chromosomal breakpoints of the presented complex aberration with combination of the inv(3)(q21q26) and t(3;12)(q21;p13) were defined by fluorescence in situ hybridization (FISH) with yeast artificial chromosomes (YACs). The inv(3) is a relatively frequent chromosomal rearrangement in patients with myeloid malignancies and dysmegakaryopoiesis and t(3;12)(q26;p13) has also been reported as a recurrent abnormality in MDS and in blast crisis of chronic myelogenous leukemia (CML). Whereas the t(3;12), inv(3), and t(3;3) are associated with a very poor prognosis, our patient surprisingly had a mild clinical course.
authors.affiliation: AG Tumorcytogenetik, Institut für Humangenetik, Medizinischen Universität zu Lübeck, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Schnittger
authors.forename: C
authors.initials: C
authors.lastname: Schoch
authors.forename: B
authors.initials: B
authors.lastname: Streubel
authors.forename: H F
authors.initials: HF
authors.lastname: Hinrichs
authors.forename: B
authors.initials: B
authors.lastname: Otremba
authors.forename: R
authors.initials: R
authors.lastname: Parwaresch
authors.forename: C
authors.initials: C
authors.lastname: Fonatsch
mesh_terms: D002871:Chromosome Banding; D007446:Chromosome Inversion; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D004273:DNA, Neoplasm / Q000302:isolation & purification; D004268:DNA-Binding Proteins / Q000235:genetics; D016521:Electrophoresis, Gel, Pulsed-Field; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D000074008:MDS1 and EVI1 Complex Locus Protein; D008533:Megakaryocytes / Q000473:pathology*; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000097:blood / Q000235:genetics* / Q000473:pathology; D010976:Platelet Count; D016133:Polymerase Chain Reaction; D011519:Proto-Oncogenes; D014157:Transcription Factors; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; D000074008:MDS1 and EVI1 Complex Locus Protein; C063575:MECOM protein, human; D014157:Transcription Factors