相对端粒长度分析在儿科骨髓衰竭中的临床应用。
Clinical utility of relative telomere length analysis in pediatric bone marrow failure.
机构信息
Pediatric Hematology-Oncology Unit, Department of Pediatrics, India.
Pediatric Hematology-Oncology Unit, Department of Pediatrics, India.
出版信息
Blood Cells Mol Dis. 2024 Nov;109:102882. doi: 10.1016/j.bcmd.2024.102882. Epub 2024 Jul 31.
INTRODUCTION
Telomere length related studies are limited in pediatric marrow failure cases due to difficulty in establishing population specific age related normograms. Moreover, there is paucity of data related to clinical relevance of telomere length in idiopathic aplastic anemia (IAA) and non telomere biology inherited bone marrow failure syndrome (IBMFS) cases.
METHODOLOGY
Hence, in current study we investigated Relative telomere length (RTL) by RQ-PCR in 83 samples as: healthy controls (n = 44), IAA (n = 15) and IBMFS (n = 24). In addition, we performed chromosomal breakage studies and targeted NGS to screen for pathogenic variants.
RESULTS & CONCLUSION: Median RTL was significantly different between control vs. IBMFS (p-0.002), IAA vs. IBMFS (p-0.0075) and DC vs. non-DC IBMFS (p-0.011) but not between control vs. IAA (p-0.46). RTL analysis had clinical utility in differentiating BMF cases as 75 % (9/12) of DC had short/very short telomeres compared to only 17 % (2/12) of non-DC IBMFS, 7 % (1/15) of IAA and 7 % (3/44) of controls (p < 0.001).
简介
由于难以建立特定人群与年龄相关的参考值图谱，端粒长度相关研究在儿科骨髓衰竭病例中受到限制。此外，关于特发性再生障碍性贫血（IAA）和非端粒生物学遗传性骨髓衰竭综合征（IBMFS）病例中端粒长度的临床相关性的数据也很少。
方法
因此，在目前的研究中，我们通过 RQ-PCR 检测了 83 个样本的相对端粒长度（RTL）：健康对照组（n=44）、IAA 组（n=15）和 IBMFS 组（n=24）。此外，我们还进行了染色体断裂研究和靶向 NGS 筛查致病变异。
结果与结论
对照组与 IBMFS 组（p-0.002）、IAA 与 IBMFS 组（p-0.0075）和 DC 与非 DC IBMFS 组（p-0.011）之间的中位 RTL 差异有统计学意义，但对照组与 IAA 组之间无统计学意义（p-0.46）。RTL 分析在区分 BMF 病例方面具有临床实用性，因为 75%（9/12）的 DC 具有短/极短的端粒，而只有 17%（2/12）的非 DC IBMFS、7%（1/15）的 IAA 和 7%（3/44）的对照组具有短/极短的端粒（p<0.001）。
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