放射治疗局限性滤泡性淋巴瘤的单基因突变和预后。
Single gene mutations and prognosis in limited-stage follicular lymphoma treated with radiation therapy.
发表日期：2024 Aug 07
作者：
Samantha A Hershenfeld, Josuha W D Tobin, Victoria Shelton, Lourdes Calvente, Katherine Lajkosz, Ting Liu, Marianne Brodtkorb, Francesco Annibale d'Amore, Maja Ludvigsen, Tara Baetz, David LeBrun, Nathalie Johnson, Michael Crump, Michael Hong, John Kuruvilla, Rosemarie Tremblay-LeMay, Michael MacManus, Richard Tsang, David C Hodgson, Maher K Gandhi, Robert Kridel
来源：
BRITISH JOURNAL OF HAEMATOLOGY
摘要：
放疗通常用于治疗局限性滤泡性淋巴瘤（FL），但一半患者最终会复发。我们假设特定基因突变的存在可以预测结果。我们对 117 名接受放疗的局限性 FL 患者的 69 基因组进行了靶向测序，并鉴定了反复突变的基因。 CREBBP 突变最频繁，突变的 CREBBP 与较差的无进展生存期相关，但在错误发现率调整后则不然。这种关联未能在独立队列中得到验证。我们的结论是，反复出现的基因突变并不能预测这种情况下的结果。替代生物标志物可能会提供更好的预后见解。© 2024 作者。英国血液学杂志由英国血液学会和约翰·威利出版
Radiotherapy is routinely used for management of limited-stage follicular lymphoma (FL), yet half of patients ultimately relapse. We hypothesized that the presence of specific gene mutations may predict outcomes. We performed targeted sequencing of a 69-gene panel in 117 limited-stage FL patients treated with radiotherapy and identified recurrently mutated genes. CREBBP was most frequently mutated, and mutated CREBBP was associated with inferior progression-free survival, though not after false discovery rate adjustment. This association failed to validate in an independent cohort. We conclude that recurrent gene mutations do not predict outcomes in this setting. Alternative biomarkers may offer better prognostic insight.© 2024 The Author(s). British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.