根据对骨髓中表达 baalc 的干细胞负荷的连续测量,发现了 5q- 综合征的新迹象。

IF 0.7 Q4 HEMATOLOGY Leukemia Research Reports Pub Date : 2024-01-01 DOI:10.1016/j.lrr.2024.100423
A. Shakirova, M. Latypova, T. Gindina, N. Mamaev
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引用次数: 0

摘要

导言5q缺失是一种巨幼红细胞贫血综合征,具有特殊的临床特征,中位生存期相对较长,急性髓细胞性贫血进展的概率较低。将这种疾病归类为 MDS 仍有争议。分子研究(如追踪白血病相关标记物 BAALC)可能会澄清这一问题。在此,我们评估了孤立5q-综合征和不同染色体异常患者的BAALC表达干细胞(BAALC-e SCs)。作为对照组,研究了 10 例无 5q 缺失但携带其他细胞遗传学畸变的 MDS 患者的骨髓。使用 BAALC RQ Kit(俄罗斯 Inogene 公司)通过 qPCR 对 BAALC-e SCs 进行序列测定。结果数据分析显示,只有10%(2/16)的孤立5q-患者有BAALC基因过表达。此外,在5q-合并其他非相同染色体畸变组(56%)中,BAALC干细胞表达量也较低。结论所展示的孤立5q-综合征患者BAALC-e干细胞负担数据表明,这种病理变化不同于典型的MDS,可被视为核糖体病,转化为MDS或AML的风险较低。从这个角度看,5q缺失综合征的生物学优势显而易见,它是在白血病启动细胞水平上进一步研究 MDS 和 AML 形成的最佳临床模型。
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NEW SHOWINGS OF 5Q- SYNDROME BASED ON SERIAL MEASUREMENTS OF BAALC-EXPRESSING STEM CELLS BURDEN IN BONE MARROW.

Introduction

The 5q- deletion is macrocytic anemia syndrome with special clinical characteristics and relatively longer median survival with low probability of AML progression. The classification of this disease as MDS is still under debates. Molecular studies, such as tracking the leukemia-associated marker BAALC, may clarify this issue. Here we evaluated BAALC-expressing stem cells (BAALC-e SCs) in patient's with isolated 5q- syndrome and with different chromosomal abnormalities.

Methods

The study includes analysis of bone marrow (BM) from 16 patients with isolated 5q deletion and 15 samples of 5q- combined with additional non-identical chromosomal abnormalities. BMs from 10 MDS patients without 5q- but carrying other cytogenetic aberrations were studied as control group. Serial measurements of BAALC-e SCs were performed by qPCR using BAALC RQ Kit (Inogene, Russia). Cytogenetic study included standard karyotyping and FISH.

Results

The data analysis revealed that only 10% (2/16) of patients with isolated 5q- had BAALC gene overexpression. Further on, low BAALC-expressing stem cells were characteristic also in the group of 5q- combined with additional non-identical chromosomal aberrations (56%). Meanwhile, in control group this rate was higher (100%).

Conclusions

The presented data of BAALC-e SCs burdens in patients with isolated 5q- syndrome indicate that this pathology differs from typical MDS and can be considered as ribosomopathy with low risk of transformation to MDS or AML. From this position, the biological advantages of 5q deletion syndrome are obvious as an optimal clinical model for further study of MDS and AML formation at the level of leukemia-initiating cells.

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来源期刊
Leukemia Research Reports
Leukemia Research Reports Medicine-Oncology
CiteScore
1.70
自引率
0.00%
发文量
70
审稿时长
23 weeks
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