NGS in short telomere syndrome – pro
No. Shortened telomeres are commonly associated with bone marrow failure syndromes including aplastic anemia. The bone marrow currently does not show aplastic anemia or any definite bone marrow condition, and counts are stable.
The short telomere syndromes are a low penetrance cancer prone syndrome. Telomere length does not correlate with mutation thatan NGS would identify, and did not find literature on how to practically use NGS to make teatmetn decisions.
Mangaonkar AA, Patnaik MM. Short Telomere Syndromes in Clinical Practice: Bridging Bench and Bedside. Mayo Clin Proc. 2018 Jul;93(7):904-916.
Hwang, S.M., Kim, S.Y., Kim, J.A. et al. Short telomere length and its correlation with gene mutations in myelodysplastic syndrome. J Hematol Oncol 9, 62 (2016).
Kristen E Schratz et al, Cancer and myeloid clonal evolution in the short telomere syndromes. Current Opinion in Genetics & Development
Volume 60, February 2020, Pages 112-118