PMID- 28832804 OWN - NLM STAT- MEDLINE DCOM- 20181211 LR - 20230201 IS - 1806-9460 (Electronic) IS - 1516-3180 (Print) IS - 1516-3180 (Linking) VI - 136 IP - 4 DP - 2018 Jul-Aug TI - Complex karyotype including ring chromosome 11 in a patient with acute myeloid leukemia: case report. PG - 361-367 LID - 10.1590/1516-3180.2016.0252150217 [doi] AB - 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. FAU - Ornellas, Maria Helena Faria AU - Ornellas MHF AD - Associate Professor, Pathology Service, Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro (RJ), Brazil. FAU - Maioli, Maria Christina Paixao AU - Maioli MCP AD - Adjunct Professor, Hematology Service Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro (RJ), Brazil. FAU - Lucena, Stella Beatriz Sampaio Goncalves de AU - Lucena SBSG AD - Associate Professor, Hematology Service, Universidade do Estado do Rio de Janeiro (UERJ), and Postdoctoral Research, Research Coordination, Instituto Nacional de Cancer (INCA), Rio de Janeiro (RJ), Brazil. FAU - Bastos, Elenice Ferreira AU - Bastos EF AD - Biologist, Hematology Department, Universidade do Estado do Rio de Janeiro (UERJ), and Supervisor, Medical Genetics Department, Instituto Fernandes Figueira (IFF), Rio de Janeiro (RJ), Brazil. FAU - Chaves, Tatiana Silva AU - Chaves TS AD - Biologist, Hematology Service, Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro (RJ), Brazil. FAU - Melo, Karina Vieira de AU - Melo KV AD - Medical Sciences Master's Student, Hematology Service, Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro (RJ), Brazil. FAU - Ribeiro-Carvalho, Marilza de Moura AU - Ribeiro-Carvalho MM AD - Biologist and Postdoctoral Researcher, Pathology Department, Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro (RJ), Brazil. FAU - Liehr, Thomas AU - Liehr T AD - Biologist and Head of Molecular Cytogenetics Laboratory, Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Thuringen, Germany. FAU - Alves, Gilda AU - Alves G AD - Biologist and Professor, Universidade do Estado do Rio de Janeiro (UERJ), and Researcher, Research Coordination, Instituto Nacional de Cancer (INCA), Rio de Janeiro (RJ), Brazil. LA - eng PT - Case Reports PT - Journal Article DEP - 20170821 PL - Brazil TA - Sao Paulo Med J JT - Sao Paulo medical journal = Revista paulista de medicina JID - 100897261 SB - IM MH - Cytogenetic Analysis MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence MH - Karyotype MH - Leukemia, Myeloid, Acute/*genetics MH - Middle Aged MH - *Ring Chromosomes MH - Translocation, Genetic PMC - PMC9881703 COIS- Conflict of interest: None EDAT- 2017/08/24 06:00 MHDA- 2018/12/12 06:00 PMCR- 2017/08/21 CRDT- 2017/08/24 06:00 PHST- 2017/01/19 00:00 [received] PHST- 2017/02/15 00:00 [accepted] PHST- 2017/08/24 06:00 [pubmed] PHST- 2018/12/12 06:00 [medline] PHST- 2017/08/24 06:00 [entrez] PHST- 2017/08/21 00:00 [pmc-release] AID - S1516-31802017005010101 [pii] AID - 10.1590/1516-3180.2016.0252150217 [doi] PST - ppublish SO - Sao Paulo Med J. 2018 Jul-Aug;136(4):361-367. doi: 10.1590/1516-3180.2016.0252150217. Epub 2017 Aug 21.