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- Title
Clinical and molecular correlates from a predominantly adult cohort of patients with short telomere lengths.
- Authors
Mangaonkar, Abhishek A.; Ferrer, Alejandro; Vairo, Filippo Pinto E.; Hammel, Caleb W.; Prochnow, Carri; Gangat, Naseema; Hogan, William J.; Litzow, Mark R.; Peters, Steve G.; Scott, J. P.; Utz, James P.; Baqir, Misbah; Carmona-Porquera, Eva M.; Kalra, Sanjay; Sekiguchi, Hiroshi; Khan, Shakila P.; Simonetto, Douglas A.; Klee, Eric W.; Kamath, Patrick S.; Roden, Anja C.
- Abstract
B shows a higher frequency of deaths in patients with multiple organ involvement compared to single organ involvement (33% versus 17%, P = 0.02*) in patients with clinically-relevant short telomeres (telomere length <=10th centile in lymphocytes). At a median follow-up of 15 (95% CI 13-17) months, 124 (78%) patients were alive with 34 (22%) deaths; higher frequency in non-transplanted (untreated) patients with multiple organ involvement compared with single organ involvement (33 versus 17%, I P i = 0.02, Fig. Among the 9 (64%) patients who underwent genetic testing (4 targeted NGS panels, 4 ES-Slice, and 1 WES) in this group, 4 (44%) patients were found to have pathogenic variant (all I TERT i ) and 2 (22%) patients were detected to have a VUS (both I RTEL1 i ). Among patients with short telomeres (TL in lymphocytes <=10%, I n i = 158, 146 adults), only 17% (9/54 tested patients) were positive for pathogenic variants.
- Subjects
ADULTS; TELOMERES; LEUCOCYTES; COMMON variable immunodeficiency; IDIOPATHIC interstitial pneumonias
- Publication
Blood Cancer Journal, 2021, Vol 11, Issue 10, p1
- ISSN
2044-5385
- Publication type
Letter
- DOI
10.1038/s41408-021-00564-7