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

被引：2
|
作者：
Faria Ornellas, Maria Helena [3 ]
Paixao Maioli, Maria Christina [4 ]
Sampaio Goncalves de Lucena, Stella Beatriz [4 ,5 ]
Bastos, Elenice Ferreira [6 ,7 ]
Chaves, Tatiana Silva [4 ]
de Melo, Karina Vieira [4 ]
Ribeiro-Carvalho, Marilza de Moura [8 ]
Liehr, Thomas [9 ]
Alves, Gilda [1 ,2 ,5 ]
机构：
[1] Univ Estado Rio De Janeiro, Av Prof Manuel de Abreu 444,4 Andar, BR-20550170 Rio De Janeiro, RJ, Brazil
[2] Inst Nacl Canc INCA, Av Prof Manuel de Abreu 444,4 Andar, BR-20550170 Rio De Janeiro, RJ, Brazil
[3] Univ Estado Rio De Janeiro, Pathol Serv, Rio De Janeiro, RJ, Brazil
[4] Univ Estado Rio De Janeiro, Hematol Serv, Rio De Janeiro, RJ, Brazil
[5] Inst Nacl Canc INCA, Res Coordinat, Rio De Janeiro, RJ, Brazil
[6] Univ Estado Rio De Janeiro, Hematol Dept, Rio De Janeiro, RJ, Brazil
[7] Inst Fernandes Figueira Fiocruz, Med Genet Dept, Rio De Janeiro, RJ, Brazil
[8] Univ Estado Rio De Janeiro, Pathol Dept, Rio De Janeiro, RJ, Brazil
[9] Friedrich Schiller Univ, Inst Human Genet, Mol Cytogenet Lab, Jena Univ Hosp, Thuringen, Germany
来源：
SAO PAULO MEDICAL JOURNAL | 2018年 / 136卷 / 04期
关键词：
Leukemia; myeloid; acute; Obesity; Chromosome aberrations; Cytogenetic analysis; HOMOGENEOUSLY STAINING REGION; BODY-MASS INDEX; HEMATOLOGIC MALIGNANCIES; MYELODYSPLASTIC SYNDROMES; MLL GENE; OBESITY; AMPLIFICATION; IMPACT; RISK; CHEMOTHERAPY;
D O I：
10.1590/1516-3180.2016.0252150217
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
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). CONCLUSION: 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.
引用
收藏
页码：361 / 367
页数：7
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