Affordable Access

Publisher Website

Simultaneous Identification of Cell of Origin, Translocations, and Hotspot Mutations in Diffuse Large B-Cell Lymphoma Using a Single RNA-Sequencing Assay.

  • Crotty, Rory1
  • Hu, Krista1
  • Stevenson, Kristen2
  • Pontius, Maggie Y1
  • Sohani, Aliyah R1
  • Ryan, Russell J H3
  • Rueckert, Erroll4
  • Brauer, Heather A4
  • Hudson, Briana4
  • Berlin, Aaron M5
  • Rodenbaugh, Matt5
  • Licon, Abel5
  • Haimes, Josh5
  • Iafrate, A John1
  • Nardi, Valentina1
  • Louissaint, Abner1
  • 1 Department of Pathology, Massachusetts General Hospital, Boston.
  • 2 Dana Farber Cancer Institute, Boston, MA.
  • 3 Department of Pathology, University of Michigan Medical School, Ann Arbor.
  • 4 NanoString Technologies, Seattle, WA.
  • 5 ArcherDx, Boulder, CO.
Published Article
American Journal of Clinical Pathology
Oxford University Press
Publication Date
Dec 01, 2020
DOI: 10.1093/ajcp/aqaa185
PMID: 33258912


Diffuse large B-cell lymphoma (DLBCL) is an aggressive non-Hodgkin lymphoma with a heterogenous genetic landscape that can require multiple assays to characterize. We reviewed a 1-step RNA-based assay to determine cell of origin (COO), detect translocations, and identify mutations and to assess the role of the assay in diagnosis. Using a single custom Archer FusionPlex Lymphoma panel, we performed anchored multiplex polymerase chain reaction-based RNA sequencing on 41 cases of de novo DLBCL. Each case was subclassified by COO, and gene fusions and hotspot mutations were identified. The findings were then compared with COO classification by the Hans immunohistochemical algorithm and NanoString technology, cytogenetics, and fluorescence in situ hybridization results. Concordant COO classification by the FusionPlex panel and NanoString was observed in 35 of 41 cases (85.3%), with NanoString and Hans concordant in 33 of 41 cases (80.5%) and FusionPlex and Hans concordant in 33 of 41 cases (80.5%). The FusionPlex assay also detected 6 of 11 BCL6 translocations (4 cryptic), 2 of 3 BCL2 translocations, and 2 of 4 MYC translocations. Mutations were detected in lymphoma-related genes in 24 of 41 cases. This FusionPlex assay offers a single method for COO classification, mutation detection, and identification of important translocations in DLBCL. Although not replacing traditional testing, it could offer useful data when limited tissue is available. © American Society for Clinical Pathology, 2020. All rights reserved. For permissions, please e-mail: [email protected]

Report this publication


Seen <100 times