title: Occurrence of a variant Philadelphia translocation, t(10;22), in de novo acute megakaryoblastic leukemia.
abstract: Acute megakaryoblastic leukemia (AMegL) in adults is a very rare subtype of acute myeloid leukemia (AML) and is characterized by a larger diversity of chromosomal abnormalities than the other subtypes, including 3q21q26 changes, aberrations of chromosomes 5 and 7, and the t(9;22)(q34;q11). We report the case of a 24-year-old patient with de novo AMegL and thrombocythemic cell count. Diagnosis was established with a bone marrow biopsy, and cytogenetics with G-banding revealed a t(10;22), which by FISH, was found to be a variant Philadelphia translocation involving chromosome 10q in all 20 metaphases analyzed. We believe that this is the first report of de novo AMegL with this chromosomal abnormality, and its possible correlation with morphology and thrombocytosis is discussed.
authors.affiliation: Department of Pathology, Medical School, Aristotle University of Thessaloniki, 54006, Thessaloniki, Greece. vakal@med.auth.gr
authors.forename: Vassiliki
authors.initials: V
authors.lastname: Kaloutsi
authors.forename: Constantine
authors.initials: C
authors.lastname: Hadjileontis
authors.forename: Constantine
authors.initials: C
authors.lastname: Tsatalas
authors.forename: Constantina
authors.initials: C
authors.lastname: Sambani
authors.forename: Ioannis
authors.initials: I
authors.lastname: Kostopoulos
authors.forename: Constantine
authors.initials: C
authors.lastname: Papadimitriou
mesh_terms: D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D007947:Leukemia, Megakaryoblastic, Acute / Q000175:diagnosis / Q000235:genetics*; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000175:diagnosis / Q000235:genetics*; D015143:Philadelphia; D014178:Translocation, Genetic / Q000235:genetics*