对有髓系恶性肿瘤风险的患者进行 TP53 基因突变筛查

Devdeep Mukherjee, Rialnat A. Lawal, Courtney D. Fitzhugh, Christopher S. Hourigan, Laura W. Dillon
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引用次数: 0

摘要

人们越来越认识到罹患与治疗相关的髓系恶性肿瘤的风险,包括细胞治疗后的风险。尽管回顾性研究认为,预先存在的 TP53 突变造血克隆是常见的致病机制,但目前还无法进行前瞻性筛查,以确定风险最大的患者。我们证明,治疗前的超深度DNA测序可用于发现随后与恶性肿瘤相关的TP53突变。
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TP53 mutation screening for patients at risk of myeloid malignancy
There is increasing recognition of the risk of developing therapy-related myeloid malignancy, including after cellular therapy. While retrospective studies have implicated pre-existing TP53 mutated hematopoietic clones as a common causative mechanism, no prospective screening to identify those patients at greatest risk is currently possible. We demonstrate that ultradeep DNA-sequencing prior to therapy may be used for discovery of TP53 mutations that are subsequently associated with malignancy.
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