Peer-Reviewed Publication
Am J Clin Pathol2025;164(4):530-544.October 4, 2025Journal Article
Mutational signature analysis of chronic lymphocytic leukemia uncovering genomic patterns and prognostic implications.
Ali AlJabban1,2, Roberta S Azevedo3, Katherine Antel4, Allison Arnette3, Elizabeth F Cohen5, David M Meredith1,2, Mark A Murakami2,3, Lynette M Sholl1, Michael Y Tolstorukov5, Harrison K Tsai1,2,6, Jonathan M Tsai1,2,3, David Zemmour7, Neal I Lindeman8, Elizabeth Garcia9, Jennifer R Brown2,3, Annette S Kim10
1Department of Pathology, Brigham and Women's Hospital, Boston, MA, United States.
2Harvard Medical School, Boston, MA, United States.
3Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA, United States.
4Division of Hematology-Oncology, Medical University of South Carolina, Charleston, SC, United States.
5Department of Informatics and Analytics, Dana-Farber Cancer Institute, Boston, MA, United States.
6Department of Pathology, Boston Children's Hospital, Boston, MA, United States.
7Department of Pathology, University of Chicago, IL, United States.
8Department of Pathology, Weill Cornell Medicine, New York, NY, United States.
9Variantyx, Inc., Framingham, MA, United States.
10Department of Pathology, University of Michigan, Ann Arbor, MI, United States.
Abstract
OBJECTIVE: To identify the mutational signature(s) for patients with diagnosed chronic lymphocytic leukemia (CLL) and their correlation with clinical and genetic classifications.
METHODS: All CLL samples sequenced on several versions of OncoPanel, from 2013 to 2022, were examined (n = 209). All variants produced by the next-generation sequencing pipeline, before review, were obtained for these sa…
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