Simultaneous Identification of Cell of Origin, Translocations, and Hotspot Mutations in Diffuse Large B-Cell Lymphoma Using a Single RNA-Sequencing Assay.
Objectives: 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...
| Publicado en: | American Journal of Clinical Pathology Vol. 155; no. 5; pp. 748 - 755 |
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| Autores principales: | , , , , , , , , , , , , , , , |
| Formato: | Journal Article |
| Publicado: |
Oxford University Press / USA
May2021
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=150005078&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 150005078 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00029173 2RW jtl: American Journal of Clinical Pathology issn: 00029173 maglogo: N pubinfo: dt: May2021 vid: 155 iid: 5 pid: 10398 pub: Oxford University Press / USA artinfo: ui: 150005078 150005078 NLM33258912 10.1093/ajcp/aqaa185 NLM33258912 150005078 ppf: 748 ppct: 7 formats: tig: atl: Simultaneous Identification of Cell of Origin, Translocations, and Hotspot Mutations in Diffuse Large B-Cell Lymphoma Using a Single RNA-Sequencing Assay. aug: au: Crotty, Rory Hu, Krista Stevenson, Kristen Pontius, Maggie Y Sohani, Aliyah R Ryan, Russell J H Rueckert, Erroll Brauer, Heather A Hudson, Briana Berlin, Aaron M Rodenbaugh, Matt Licon, Abel Haimes, Josh Iafrate, A John Nardi, Valentina Louissaint, Abner affil: Department of Pathology, Massachusetts General Hospital , Boston sug: subj: Chromosome Disorders Lymphoma, B-Cell Pathology Mutation Lymphoma, B-Cell Female Proteins Middle Age Proteins Metabolism Male Aged, 80 and Over Lymphoma, B-Cell Diagnosis Aged Adult Middle Aged: 45-64 years Aged, 80 & over Aged: 65+ years Adult: 19-44 years Female Male ab: Objectives: 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.Methods: 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.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.Conclusion: 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. pubtype: Academic Journal doctype: Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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