title: Translocation (X;12)(p11;p13) as a sole abnormality in biphenotypic acute leukemia.
abstract: A reciprocal t(X;12)(p11;p13) was found as the sole clonal abnormality in biphenotypic leukemia with myeloid and B-lymphoid differentiation. With fluorescence in situ hybridization analysis, the ETV6 gene (previously TEL) was found to be translocated intact to the derivative X chromosome; no MLL and BCR/ABL rearrangements were found. The patient achieved complete remission after induction chemotherapy. To our knowledge, this cytogenetic aberration has not been reported previously as a sole abnormality in hematological malignancies. Its presence may suggest an important role in the pathogenesis of biphenotypic leukemia.
authors.affiliation: Laboratory of Health Physics and Environmental Hygiene, National Center for Scientific Research (NCSR) Demokritos, 15310 Aghia Paraskevi, Athens, Greece. pmanola@ipta.demokritos.gr
authors.forename: Kalliopi N
authors.initials: KN
authors.lastname: Manola
authors.forename: Vasileios N
authors.initials: VN
authors.lastname: Georgakakos
authors.forename: Theodore
authors.initials: T
authors.lastname: Marinakis
authors.forename: Chryssa
authors.initials: C
authors.lastname: Stavropoulou
authors.forename: George
authors.initials: G
authors.lastname: Paterakis
authors.forename: Nikolaos I
authors.initials: NI
authors.lastname: Anagnostopoulos
authors.forename: Gabriel E
authors.initials: GE
authors.lastname: Pantelias
authors.forename: Constantina
authors.initials: C
authors.lastname: Sambani
mesh_terms: D000208:Acute Disease; D002871:Chromosome Banding; D020223:Chromosome Painting; D002881:Chromosomes, Human, Pair 12; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D007621:Karyotyping; D007938:Leukemia / Q000235:genetics* / Q000473:pathology; D008214:Lymphocytes / Q000378:metabolism / Q000473:pathology; D008875:Middle Aged; D022423:Myeloid Cells / Q000378:metabolism / Q000473:pathology; D014178:Translocation, Genetic