Tracing Founder Mutations in Circulating and Tissue-Resident Follicular Lymphoma Precursors

追踪循环和组织驻留滤泡性淋巴瘤前体的创始突变

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作者:Joseph G Schroers-Martin #, Joanne Soo #, Gabriel Brisou #, Florian Scherer #, David M Kurtz, Brian J Sworder, Michael S Khodadoust, Michael C Jin, Agnès Bru, Chih Long Liu, Henning Stehr, Paolo Vineis; EPIC Consortium; Yasodha Natkunam, Lauren R Teras, Joo Y Song, Bertrand Nadel, Maximilian Diehn, 

Significance

Our study provides direct evidence for recurrent genetic aberrations preceding FL diagnosis, revealing the combination of BCL2 translocation with CREBBP KAT domain mutations as characteristic committed lesions of FL CPCs. Such prediagnostic mutations are detectable years before clinical diagnosis and may help discriminate individuals at risk for lymphoma development. This article is highlighted in the In This Issue feature, p. 1275.

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