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Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report

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posted on 2017-12-05, 15:51 authored by Maria Helena Faria Ornellas, Maria Christina Paixão Maioli, Stella Beatriz Sampaio Gonçalves de Lucena, Elenice Ferreira Bastos, Tatiana Silva Chaves, Karina Vieira de Melo, Marilza de Moura Ribeiro-Carvalho, Thomas Liehr, Gilda Alves

ABSTRACT CONTEXT: Complex karyotypes in acute myeloid leukemia (AML) are characterized by an overall low response rate with frequent relapses after clinical treatment. CASE REPORT: Here, we describe the case of a 61-year-old obese female with clinically diagnosed AML who presented a complex karyotype involving an uncommon abnormality: ring chromosome 11. Immunophenotypic analysis confirmed the diagnosis. Classical and molecular cytogenetic analyses, using GTG banding and FISH (fluorescence in situ hybridization), revealed the presence of complex structural rearrangement involving r(11), add(12)(p13), der(5) and der(13). CONCLUSIONS: Molecular cytogenetic analysis is suitable for better identification and characterization of chromosomal rearrangements in AML. Case reports like this, as well as population-based studies, are necessary for understanding the karyotypic changes that occur in humans.

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    Sao Paulo Medical Journal

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