title: Molecular characterization of complex chromosomal rearrangement: first report of novel t(7;12) (q11;q22) as part of a complex karyotype in de novo AML-M2 case.
abstract: The strong association of diagnostic karyotype with clinical outcome has made cytogenetics one of the most valuable diagnostic and prognostic tools for acute myeloid leukemia (AML) till today. Complex chromosomal findings are reported to be seen in nearly 10-15% of adult AMLs and are generally associated with poor outcome. In the current report, we present the results of hematologic, immunophenotypic, cytogenetic, chromosomal microarray and molecular analyses of a 60-year-old female patient diagnosed with AML-M2. Cytogenetic analysis revealed complex chromosomal findings involving seven different chromosomes. However, cytogenetic analyses were not able to precisely unveil all karyotypic changes, hence chromosomal microarray was used for further characterization. The most interesting observation was identification of a t(7;12) (q11;q22) as part of this complex karyotype. To the best of our knowledge, this is the first report of identification of novel t(7;12) (q11;q22) as part of a complex karyotype in de novo AML-M2.
authors.affiliation: Research and Development, SRL Ltd., Plot No. 1, Prime Square Building, S.V. Road, Goregaon (W), Mumbai, India.
authors.forename: Firoz
authors.initials: F
authors.lastname: Ahmad
authors.affiliation: Cytogenetic Division, SRL Ltd., Plot No. 1, Prime Square Building, S.V. Road, Goregaon (W), Mumbai, India.
authors.forename: Rupa
authors.initials: R
authors.lastname: Dalvi
authors.affiliation: Cytogenetic Division, SRL Ltd., Plot No. 1, Prime Square Building, S.V. Road, Goregaon (W), Mumbai, India.
authors.forename: Swarna
authors.initials: S
authors.lastname: Mandava
authors.affiliation: Research and Development, SRL Ltd., Plot No. 1, Prime Square Building, S.V. Road, Goregaon (W), Mumbai, India. Electronic address: brdas@srl.in.
authors.forename: Bibhu R
authors.initials: BR
authors.lastname: Das
mesh_terms: D002881:Chromosomes, Human, Pair 12; D002897:Chromosomes, Human, Pair 7; D003582:Cytogenetics / Q000379:methods; D005260:Female; D006801:Humans; D059785:Karyotype; D007621:Karyotyping / Q000379:methods; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008875:Middle Aged; D011379:Prognosis; D014178:Translocation, Genetic / Q000235:genetics*
keywords: Acute myeloid leukemia; Chromosomal microarrays; Cytogenetics; India; Novel t(7 ;12)