• Sao Paulo Med J · Jul 2018

    Case Reports

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

    • 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, and Gilda Alves.
    • Associate Professor, Pathology Service, Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro (RJ), Brazil.
    • Sao Paulo Med J. 2018 Jul 1; 136 (4): 361367361-367.

    ContextComplex karyotypes in acute myeloid leukemia (AML) are characterized by an overall low response rate with frequent relapses after clinical treatment.Case ReportHere, 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).ConclusionsMolecular 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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