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- Title
Mate pair sequencing improves detection of genomic abnormalities in acute myeloid leukemia.
- Authors
Aypar, Umut; Smoley, Stephanie A.; Pitel, Beth A.; Pearce, Kathryn E.; Zenka, Roman M.; Vasmatzis, George; Johnson, Sarah H.; Smadbeck, James B.; Peterson, Jess F.; Geiersbach, Katherine B.; Van Dyke, Daniel L.; Thorland, Erik C.; Jenkins, Robert B.; Ketterling, Rhett P.; Greipp, Patricia T.; Kearney, Hutton M.; Hoppman, Nicole L.; Baughn, Linda B.
- Abstract
Objective: Acute myeloid leukemia (AML) can be subtyped based on recurrent cytogenetic and molecular genetic abnormalities with diagnostic and prognostic significance. Although cytogenetic characterization classically involves conventional chromosome and/or fluorescence in situ hybridization (FISH) assays, limitations of these techniques include poor resolution and the inability to precisely identify breakpoints. Method: We evaluated whether an NGS‐based methodology that detects structural abnormalities and copy number changes using mate pair sequencing (MPseq) can enhance the diagnostic yield for patients with AML. Results: Using 68 known abnormal and 20 karyotypically normal AML samples, each recurrent primary AML‐specific abnormality previously identified in the abnormal samples was confirmed using MPseq. Importantly, in eight cases with abnormalities that could not be resolved by conventional cytogenetic studies, MPseq was utilized to molecularly define eight recurrent AML‐fusion events. In addition, MPseq uncovered two cryptic abnormalities that were missed by conventional cytogenetic studies. Thus, MPseq improved the diagnostic yield in the detection of AML‐specific structural rearrangements in 10/88 (11%) of cases analyzed. Conclusion: Utilization of MPseq represents a precise, molecular‐based technique that can be used as an alternative to conventional cytogenetic studies for newly diagnosed AML patients with the potential to revolutionize the diagnosis of hematologic malignancies.
- Subjects
ACUTE myeloid leukemia; MYELOID leukemia genetics; HUMAN cytogenetics; NUCLEOTIDE sequencing; DNA copy number variations
- Publication
European Journal of Haematology, 2019, Vol 102, Issue 1, p87
- ISSN
0902-4441
- Publication type
Article
- DOI
10.1111/ejh.13179