Clinical utility of relative telomere length analysis in pediatric bone marrow failure

IF 2.1 4区医学 Q3 HEMATOLOGY

Blood Cells Molecules and Diseases Pub Date : 2024-07-31 DOI:10.1016/j.bcmd.2024.102882

Shilpa Amatya , Prateek Bhatia , Sudhanshi Raina , Sreejesh Sreedharanunni , Minu Singh , Emine Rahman , M.V. Archana , Amita Trehan

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引用次数: 0

Abstract

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).

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相对端粒长度分析在小儿骨髓衰竭中的临床应用。

导言：由于难以确定特定人群的年龄相关标准图，与端粒长度相关的研究在小儿骨髓衰竭病例中非常有限。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，在当前的研究中，我们通过RQ-PCR对83个样本中的相对端粒长度（RTL）进行了调查，这些样本包括：健康对照（n = 44）、IAA（n = 15）和IBMFS（n = 24）。此外，我们还进行了染色体断裂研究和靶向 NGS，以筛查致病变体：对照组与 IBMFS（p-0.002）、IAA 与 IBMFS（p-0.0075）、DC 与非 DC IBMFS（p-0.011）之间的中位 RTL 有明显差异，但对照组与 IAA 之间没有差异（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具有短端粒/极短端粒，而非DC IBMFS中只有17%（2/12）、IAA中7%（1/15）和对照组中7%（3/44）具有短端粒/极短端粒。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Blood Cells Molecules and Diseases 医学-血液学

CiteScore

4.90

自引率

0.00%

发文量

审稿时长

14 days

期刊介绍： Blood Cells, Molecules & Diseases emphasizes not only blood cells, but also covers the molecular basis of hematologic disease and studies of the diseases themselves. This is an invaluable resource to all those interested in the study of hematology, cell biology, immunology, and human genetics.