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荧光原位杂交(FISH)检测到的7号染色体物质缺失在髓系恶性肿瘤中的预后影响。

The prognostic impact of loss of chromosome 7 material detected by fluorescence in situ hybridization (FISH) in myeloid malignancies.

作者信息

El-Menoufy Mohamed Amr M, Mourad Zeinab I, Farahat Nahla M

机构信息

Hematology Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.

Clinical Pathology Department, Faculty of Medicine, Alexandria University, Alexandria, Egypt.

出版信息

J Egypt Natl Canc Inst. 2018 Dec;30(4):133-138. doi: 10.1016/j.jnci.2018.11.001. Epub 2018 Nov 22.

Abstract

BACKGROUND

Monosomy 7 (-7) or deletion in its long arm [del(7q)] is among the most common chromosomal abnormalities in myeloid malignancies. There are prognostic variations between -7 and del(7q) in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).

AIM

To describe the clinical characteristics, response to treatment, and survival of patients with primary AML and MDS having -7 or del(7q) detected by fluorescence in situ hybridization (FISH).

PATIENTS AND METHODS

The study was conducted on 53 patients with primary AML and MDS. They were tested for chromosome 7 abnormality using FISH technique.

RESULTS

Thirty-one patients had chromosome 7 abnormality and 22 did not. Lower complete remission and higher death rates were observed in patients with -7 (47.6% and 62%, respectively) when compared to patients with del(7q) (70% and 40%, respectively) with no significant difference (p = 0.218 and 0.101, respectively). The median overall survival (OS) of patients with -7, del(7q) and normal chromosome 7 were 32.0, 43.0 and 50.0 months, respectively, with significant statistical difference (p = 0.001). This difference was evident between patients with -7 and those with normal chromosome 7 (p = 0.001), and less evident between patients with -7 and those with del(7q) (p = 0.021).

CONCLUSION

Chromosome 7 analysis has clear impact on the outcome of myeloid malignancies. The prognostic variations between -7 and del(7q) is attributed to multiple factors. Cases with del(7q) have better outcome than cases with -7. FISH provides a powerful tool for detecting and monitoring patients with chromosome 7 abnormalities.

摘要

背景

7号染色体单体(-7)或其长臂缺失[del(7q)]是髓系恶性肿瘤中最常见的染色体异常之一。急性髓系白血病(AML)和骨髓增生异常综合征(MDS)中,-7和del(7q)的预后存在差异。

目的

描述通过荧光原位杂交(FISH)检测到存在-7或del(7q)的原发性AML和MDS患者的临床特征、治疗反应及生存情况。

患者与方法

对53例原发性AML和MDS患者进行研究。采用FISH技术检测其7号染色体异常情况。

结果

31例患者存在7号染色体异常,22例无异常。与del(7q)患者(分别为70%和40%)相比,-7患者的完全缓解率较低,死亡率较高(分别为47.6%和62%),但差异无统计学意义(p值分别为0.218和0.101)。-7、del(7q)和7号染色体正常的患者的总生存期(OS)中位数分别为32.0、43.0和50.0个月,差异有统计学意义(p = 0.001)。-7患者与7号染色体正常患者之间的差异明显(p = 0.001),-7患者与del(7q)患者之间的差异较小(p = 0.021)。

结论

7号染色体分析对髓系恶性肿瘤的预后有明显影响。-7和del(7q)之间的预后差异归因于多种因素。del(7q)患者的预后优于-7患者。FISH为检测和监测7号染色体异常患者提供了有力工具。

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