ArticleBlood research2026
Telomere length analysis using qPCR in aplastic anemia: prevalence and predictive value for germline mutation status.
Article in Blood research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeTelomere length analysis (TLA) is used to identify telomere biology disorders (TBD) in aplastic anemia (AA); however, the diagnostic performance of quantitative PCR (qPCR)-based TLA across germline mutation categories remains poorly defined.
methodsA total of 305 consecutive patients with AA were prospectively enrolled over 3.5 years. All patients underwent age-adjusted qPCR-based TLA and comprehensive germline sequencing, including whole exome sequencing or blended genome-exome sequencing, and were classified as having inherited bone marrow failure syndrome (IBMFS) (Category 1, n = 40), a monoallelic carrier state (Category 2, n = 19), a variant of uncertain significance (VUS; Category 3, n = 39), or AA without germline variants (Category 4, n = 207).
resultsShortened telomere length (TL) (≤ 10th percentile) was present in 37.7% of patients, and very short TL (≤ 1st percentile) was present in 14.8%. The degree of shortening varied by etiology: 71.4% of confirmed TBD gene carriers had shortened TL compared with 31.6% of carriers of biallelic variants in Fanconi anemia pathway genes and 37.7% of patients with acquired AA. TL did not distinguish confirmed IBMFS from acquired AA across the full disease spectrum; however, normal TL (> 10th percentile) excluded TBD-associated IBMFS (TBD-IBMFS) with a negative predictive value of 98.5%. Very short TL (≤ 1st percentile) had a positive predictive value of only 12.9% for TBD-IBMFS and was also observed in 13.0% of acquired-AA patients.
conclusionsIn unselected patients with AA, qPCR-based TLA does not distinguish inherited from acquired disease across the full spectrum of IBMFS; however, normal TL substantially lowers the likelihood of TBD-IBMFS. Very short TL is not specific to constitutional telomeropathy and should be interpreted with caution when adjudicating TBD variants of uncertain significance.
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