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一名急性髓系白血病患者出现包括11号环状染色体在内的复杂核型：病例报告。

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

作者信息

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

机构信息

Associate Professor, Pathology Service, Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro (RJ), Brazil.

Adjunct Professor, Hematology Service Universidade do Estado do Rio de Janeiro (UERJ), Rio de Janeiro (RJ), Brazil.

出版信息

Sao Paulo Med J. 2018 Jul-Aug;136(4):361-367. doi: 10.1590/1516-3180.2016.0252150217. Epub 2017 Aug 21.

DOI:10.1590/1516-3180.2016.0252150217
PMID:28832804
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9881703/
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.

摘要

背景

急性髓系白血病（AML）中的复杂核型特征为临床治疗后总体缓解率低且频繁复发。

病例报告

在此，我们描述了一名61岁肥胖女性的病例，该患者临床诊断为AML，其呈现出一种涉及罕见异常的复杂核型：11号环状染色体。免疫表型分析证实了诊断。使用GTG显带和荧光原位杂交（FISH）的经典和分子细胞遗传学分析显示存在涉及r(11)、add(12)(p13)、der(5)和der(13)的复杂结构重排。

结论

分子细胞遗传学分析适用于更好地鉴定和表征AML中的染色体重排。这样的病例报告以及基于人群的研究对于理解人类发生的核型变化是必要的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d707/9881703/1ed0d8283a2d/1806-9460-spmj-136-04-361-gf4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d707/9881703/653fa1bba287/1806-9460-spmj-136-04-361-gf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d707/9881703/bc3512d5df2c/1806-9460-spmj-136-04-361-gf2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d707/9881703/c9ce4cc8ef39/1806-9460-spmj-136-04-361-gf3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d707/9881703/1ed0d8283a2d/1806-9460-spmj-136-04-361-gf4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d707/9881703/653fa1bba287/1806-9460-spmj-136-04-361-gf1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d707/9881703/bc3512d5df2c/1806-9460-spmj-136-04-361-gf2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d707/9881703/c9ce4cc8ef39/1806-9460-spmj-136-04-361-gf3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d707/9881703/1ed0d8283a2d/1806-9460-spmj-136-04-361-gf4.jpg

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