Article
Clonal landscape and clinical outcomes of telomere biology disorders: somatic rescue and cancer mutations.
Blood - 5 Dec 2024
Gutierrez-Rodrigues Fernanda, Groarke Emma M, Thongon Natthakan, Rodriguez-Sevilla Juan Jose, Catto Luiz Fernando B, Niewisch Marena R, Shalhoub Ruba, McReynolds Lisa J, Clé Diego V, Patel Bhavisha A, Ma Xiaoyang, Hironaka Dalton, Donaires Flávia S, Spitofsky Nina, Santana Barbara A, Lai Tsung-Po, Alemu Lemlem, Kajigaya Sachiko, Darden Ivana, Zhou Weiyin, Browne Paul V, Paul Subrata, Lack Justin, Young David J, DiNardo Courtney D, Aviv Abraham, Ma Feiyang, De Oliveira Michel Michels, de Azambuja Ana Paula, Dunbar Cynthia E, Olszewska Malgorzata, Olivier Emmanuel, Papapetrou Eirini P, Giri Neelam, Alter Blanche P, Bonfim Carmem, Wu Colin O, Garcia-Manero Guillermo, Savage Sharon A, Young Neal S, Colla Simona, Calado Rodrigo T
Abstract excerpt
ABSTRACT: Telomere biology disorders (TBDs), caused by pathogenic germ line variants in telomere-related genes, present with multiorgan disease and a predisposition to cancer. Clonal hematopoiesis (CH) as a marker of cancer development and survival in TBDs is poorly understood. Here, we characterized the clonal landscape of a large cohort of 207 patients with TBD with a broad range of age and phenotype. CH...
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