title: Novel translocation in acute megakaryoblastic leukemia (AML-M7).
abstract: The authors report a unique translocation in a patient with M7 acute myeloid leukemia and review the literature. A 22-month-old girl without Down syndrome was diagnosed with acute myeloid leukemia, subtype M7 (AML-M7), and died with relapsed disease following bone marrow transplantation. Tumor cells were evaluated using cytogenetics (including spectral karyotyping), immunohistochemistry, and flow cytometry. The patient was found to have a previously unreported complex translocation as follows: 50,XX,der(1)t(1;5)(p36?.1;p15?.1),del(5)(p15?.1), +6,+der(6;7)(?;?),der(7)t(6;7)(?;p22)[2],der(9)t(6;9) (?;p21)t(9;14)(q34;q11.2-q13),+10,t(12;16)(p13;q24),-14[2], del(14)(q13)[2],+der(19)t(1;19)(?;p13.3),+22[cp 4]. AML-M7 in non-Down syndrome patients is a rare disease that requires improved prognostic markers.
authors.affiliation: Department of Pediatrics, University of Maryland School of Medicine, Baltimore, USA. jat42@georgetown.edu
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Toretsky
authors.forename: Eileen M
authors.initials: EM
authors.lastname: Everly
authors.forename: Hesed M
authors.initials: HM
authors.lastname: Padilla-Nash
authors.forename: Allen
authors.initials: A
authors.lastname: Chen
authors.forename: Lynne V
authors.initials: LV
authors.lastname: Abruzzo
authors.forename: Allen E
authors.initials: AE
authors.lastname: Eskenazi
authors.forename: Chris
authors.initials: C
authors.lastname: Frantz
authors.forename: Thomas
authors.initials: T
authors.lastname: Ried
authors.forename: Judith
authors.initials: J
authors.lastname: Stamberg
mesh_terms: D016026:Bone Marrow Transplantation; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007947:Leukemia, Megakaryoblastic, Acute / Q000175:diagnosis / Q000235:genetics*; D032681:Spectral Karyotyping; D014178:Translocation, Genetic / Q000235:genetics*