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Clinical utility of relative telomere length analysis in pediatric bone marrow failure
Shilpa Amatya1, Prateek Bhatia1, Sudhanshi Raina1
1Pediatric Hematology-Oncology Unit, Department of Pediatrics, India.
Insights
Relative telomere length (RTL) analysis is crucial for diagnosing pediatric bone marrow failure syndromes. Short telomeres strongly indicate dyskeratosis congenita (DC) cases within inherited bone marrow failure syndromes (IBMFS).
Area of Science:
- Hematology
- Genetics
- Pediatric Medicine
Background:
- Establishing age-specific telomere length norms in pediatric marrow failure is challenging.
- Limited data exists on the clinical relevance of telomere length in idiopathic aplastic anemia (IAA) and non-telomere biology inherited bone marrow failure syndromes (IBMFS).
Purpose of the Study:
- To investigate Relative Telomere Length (RTL) in pediatric patients with bone marrow failure syndromes.
- To assess the clinical utility of RTL in differentiating between various types of bone marrow failure, including IAA and IBMFS.
Main Methods:
- Relative Telomere Length (RTL) was measured using RQ-PCR in 83 samples (44 controls, 15 IAA, 24 IBMFS).
- Chromosomal breakage studies and targeted next-generation sequencing (NGS) were performed to identify pathogenic variants.
Main Results:
- Significant differences in median RTL were observed between controls and IBMFS, IAA and IBMFS, and DC versus non-DC IBMFS.
- RTL analysis demonstrated clinical utility, with 75% of DC cases showing short/very short telomeres compared to only 17% of non-DC IBMFS, 7% of IAA, and 7% of controls.
Conclusions:
- Telomere length is a significant differentiating factor in pediatric bone marrow failure syndromes.
- RTL measurement is a valuable tool for diagnosing and classifying bone marrow failure conditions, particularly distinguishing DC within IBMFS.
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).
