Detection of cryptic CCND1 rearrangements in mantle cell lymphoma by next generation sequencing.

Annals of diagnostic pathology 2020 Jun

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The accurate detection of recurrent genetic abnormalities for most hematologic neoplasms is critical for diagnosis, prognosis and/or treatment. Rearrangements involving CCND1 are observed in a subset of mature B-cell neoplasms and can be reliably detected by fluorescence in situ hybridization (FISH) in most cases. However, cryptic and complex chromosomal rearrangements may pose a technical challenge for accurate diagnosis. Herein, we describe two patients with suspected mantle cell lymphoma that lacked obvious CCND1 rearrangements by FISH studies. A next generation sequencing (NGS) based assay, mate-pair sequencing (MPseq), was utilized in each case to investigate potential cryptic CCND1 rearrangements and revealed cryptic insertional events resulting in CCND1/IGH and CCND1/IGK rearrangements. These cases demonstrate that NGS-based assays, including MPseq, are a powerful approach to identify cryptic rearrangements of clinical importance that are not detected by current clinical genomics evaluation. Copyright © 2020 Elsevier Inc. All rights reserved.

Citation

Katarzyna Polonis, Matthew J Schultz, Horatiu Olteanu, James B Smadbeck, Sarah H Johnson, George Vasmatzis, Xinjie Xu, Patricia T Greipp, Rhett P Ketterling, Nicole L Hoppman, Linda B Baughn, Jess F Peterson. Detection of cryptic CCND1 rearrangements in mantle cell lymphoma by next generation sequencing. Annals of diagnostic pathology. 2020 Jun;46:151533