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Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report
Ornellas, Maria Helena Faria; Maioli, Maria Christina Paixão; Lucena, Stella Beatriz Sampaio Gonçalves de; Bastos, Elenice Ferreira; Chaves, Tatiana Silva; Melo, Karina Vieira de; Ribeiro-Carvalho, Marilza de Moura; Liehr, Thomas; Alves, Gilda.
  • Ornellas, Maria Helena Faria; Universidade do Estado do Rio de Janeiro (UERJ). Pathology Service. Rio de Janeiro. BR
  • Maioli, Maria Christina Paixão; Universidade do Estado do Rio de Janeiro (UERJ). Hematology Service. Rio de Janeiro. BR
  • Lucena, Stella Beatriz Sampaio Gonçalves de; Universidade do Estado do Rio de Janeiro (UERJ). Hematology Service. Rio de Janeiro. BR
  • Bastos, Elenice Ferreira; Universidade do Estado do Rio de Janeiro (UERJ). Hematology Department. Rio de Janeiro. BR
  • Chaves, Tatiana Silva; Universidade do Estado do Rio de Janeiro (UERJ). Hematology Service. Rio de Janeiro. BR
  • Melo, Karina Vieira de; Universidade do Estado do Rio de Janeiro (UERJ). Hematology Service. Rio de Janeiro. BR
  • Ribeiro-Carvalho, Marilza de Moura; Universidade do Estado do Rio de Janeiro (UERJ). Pathology Department. Rio de Janeiro. BR
  • Liehr, Thomas; Institute of Human Genetics. Friedrich Schiller University. Jena University Hospital. Thüringen. DE
  • Alves, Gilda; Universidade do Estado do Rio de Janeiro (UERJ). Rio de Janeiro. BR
São Paulo med. j ; 136(4): 361-367, July-Aug. 2018. tab, graf
Article in English | LILACS | ID: biblio-962733
ABSTRACT
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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Full text: Available Index: LILACS (Americas) Main subject: Ring Chromosomes / Leukemia, Myeloid, Acute Type of study: Prognostic study Limits: Female / Humans Language: English Journal: São Paulo med. j Journal subject: Cirurgia Geral / Ciˆncia / Ginecologia / Medicine / Medicina Interna / Obstetr¡cia / Pediatria / Sa£de Mental / Sa£de P£blica Year: 2018 Type: Article Affiliation country: Brazil / Germany Institution/Affiliation country: Institute of Human Genetics/DE / Universidade do Estado do Rio de Janeiro (UERJ)/BR

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Full text: Available Index: LILACS (Americas) Main subject: Ring Chromosomes / Leukemia, Myeloid, Acute Type of study: Prognostic study Limits: Female / Humans Language: English Journal: São Paulo med. j Journal subject: Cirurgia Geral / Ciˆncia / Ginecologia / Medicine / Medicina Interna / Obstetr¡cia / Pediatria / Sa£de Mental / Sa£de P£blica Year: 2018 Type: Article Affiliation country: Brazil / Germany Institution/Affiliation country: Institute of Human Genetics/DE / Universidade do Estado do Rio de Janeiro (UERJ)/BR