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Comment
. 2021 Mar 10;12(1):1552.
doi: 10.1038/s41467-021-21794-0.

Alternative lengthening of telomeres is not synonymous with mutations in ATRX/DAXX

Alexandre de Nonneville  1   2 , Roger R Reddel  3
Affiliations
Comment

Alternative lengthening of telomeres is not synonymous with mutations in ATRX/DAXX

Alexandre de Nonneville et al. Nat Commun. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

R.R.R. is listed as a joint inventor on a patent regarding the C-circle assay: European Patent 10818148.8, US Patent US 08999643, Chinese Patent 201080048175.X: “Methods and assays for the detection of Alternative Lengthening of Telomeres (ALT) activity in cells”; Children’s Medical Research Institute, Inventors: Jeremy D. Henson and Roger R. Reddel.

Figures

Fig. 1
Fig. 1. Comparison of the ALT-probability score of Sieverling et al., with the new classifier proposed in this article.
The 2497 patients described in Sieverling et al. are divided here into two groups: ALT-high probability (upper bar) and ALT-low probability (lower bar) according to the new classifier. Within the two bars, each patient is represented by a symbol placed on a scale from 0 to 1 according to its Sieverling ALT-probability score. Star and inverted triangle symbols represent patients whose tumors were C-circle assay (CCA) positive or negative, respectively, and the dots represent patients for whom CCA data are unavailable. Red and blue symbols correspond to patients with ATRX/DAXXtrunc and TERTmod alterations, respectively. The pink and blue shading highlights the tumors for which the two scores were discordant: the pink shading in the upper box indicates tumors with ALT-high probability (new classifier), that were ALT-probability <0.75 (ALT-low) by Sieverling’s score; the blue shading in the lower box indicates tumors with ALT-low probability (new classifier), that were ALT-probability >0.75 (ALT-high) by Sieverling’s score.
Fig. 2
Fig. 2. Distance to the expected singleton repeat count in tumors with negative C-circle assay, with (n = 3), or without (n = 58) ATRX/DAXXtrunc, and in tumors with positive C-circle assay with (n = 10), or without (n = 20) ATRX/DAXXtrunc.
The center (horizontal) red line of the scattergrams is the median. p < 0.05 was considered as significant; Kolmogorov–Smirnov tests, two-tailed.
See this image and copyright information in PMC

Comment in

Comment on

  • Genomic footprints of activated telomere maintenance mechanisms in cancer.
    Sieverling L, Hong C, Koser SD, Ginsbach P, Kleinheinz K, Hutter B, Braun DM, Cortés-Ciriano I, Xi R, Kabbe R, Park PJ, Eils R, Schlesner M; PCAWG-Structural Variation Working Group; Brors B, Rippe K, Jones DTW, Feuerbach L; PCAWG Consortium. Sieverling L, et al. Nat Commun. 2020 Feb 5;11(1):733. doi: 10.1038/s41467-019-13824-9. Nat Commun. 2020. PMID: 32024817 Free PMC article.

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