作者
Daniel Leongamornlert, Jesús Gutiérrez-Abril, SooWah Lee, Emilio Barretta, Thomas Creasey, Gunes Gundem, Max F Levine, Juan E Arango-Ossa, Konstantinos Liosis, Juan S Medina-Martinez, Krisztina Zuborne Alapi, Amy A Kirkwood, Laura Clifton-Hadley, Pip Patrick, David Jones, Laura O’Neill, Adam P Butler, Christine J Harrison, Peter Campbell, Bela Patel, Anthony V Moorman, Adele K Fielding, Elli Papaemmanuil
发表日期
2023/8/8
期刊
Blood Advances
卷号
7
期号
15
页码范围
3862-3873
出版商
American Society of Hematology
简介
Genomic profiling during the diagnosis of B-cell precursor acute lymphoblastic leukemia (BCP-ALL) in adults is used to guide disease classification, risk stratification, and treatment decisions. Patients for whom diagnostic screening fails to identify disease-defining or risk-stratifying lesions are classified as having B-other ALL. We screened a cohort of 652 BCP-ALL cases enrolled in UKALL14 to identify and perform whole genome sequencing (WGS) of paired tumor-normal samples. For 52 patients with B-other, we compared the WGS findings with data from clinical and research cytogenetics. WGS identified a cancer-associated event in 51 of 52 patients, including an established subtype defining genetic alterations that were previously missed with standard-of-care (SoC) genetics in 5 of them. Of the 47 true B-other ALL, we identified a recurrent driver in 87% (41). A complex karyotype via cytogenetics emerges …
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