دورية أكاديمية
أعرض في EDS

Clonality assessment and detection of clonal diversity in classic Hodgkin lymphoma by next-generation sequencing of immunoglobulin gene rearrangements.

التفاصيل البيبلوغرافية
العنوان: Clonality assessment and detection of clonal diversity in classic Hodgkin lymphoma by next-generation sequencing of immunoglobulin gene rearrangements.
المؤلفون: van Bladel DAG; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., van den Brand M; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands.; Pathology-DNA, Rijnstate Hospital, Arnhem, The Netherlands., Rijntjes J; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Pamidimarri Naga S; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands.; Department of Medical Oncology, Radboud University Medical Center, Nijmegen, The Netherlands., Haacke DLCM; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Luijks JACW; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Hebeda KM; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., van Krieken JHJM; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Groenen PJTA; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands., Scheijen B; Department of Pathology, Radboud University Medical Center, Nijmegen, The Netherlands. blanca.scheijen@radboudumc.nl.; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands. blanca.scheijen@radboudumc.nl.
المصدر: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc [Mod Pathol] 2022 Jun; Vol. 35 (6), pp. 757-766. Date of Electronic Publication: 2021 Dec 03.
نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 8806605 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0285 (Electronic) Linking ISSN: 08933952 NLM ISO Abbreviation: Mod Pathol Subsets: MEDLINE
أسماء مطبوعة: Publication: 2023- : [New York] : Elsevier Inc.
Original Publication: Baltimore, MD : Williams & Wilkins, c1988-
مواضيع طبية MeSH: Genes, Immunoglobulin* , Hodgkin Disease*/diagnosis , Hodgkin Disease*/genetics, DNA Copy Number Variations ; Gene Rearrangement ; High-Throughput Nucleotide Sequencing ; Humans ; Immunoglobulin Heavy Chains/genetics ; Immunoglobulin kappa-Chains/genetics
مستخلص: Clonality analysis in classic Hodgkin lymphoma (cHL) is of added value for correctly diagnosing patients with atypical presentation or histology reminiscent of T cell lymphoma, and for establishing the clonal relationship in patients with recurrent disease. However, such analysis has been hampered by the sparsity of malignant Hodgkin and Reed-Sternberg (HRS) cells in a background of reactive immune cells. Recently, the EuroClonality-NGS Working Group developed a novel next-generation sequencing (NGS)-based assay and bioinformatics platform (ARResT/Interrogate) to detect immunoglobulin (IG) gene rearrangements for clonality testing in B-cell lymphoproliferations. Here, we demonstrate the improved performance of IG-NGS compared to conventional BIOMED-2/EuroClonality analysis to detect clonal gene rearrangements in 16 well-characterized primary cHL cases within the IG heavy chain (IGH) and kappa light chain (IGK) loci. This was most obvious in formalin-fixed paraffin-embedded (FFPE) tissue specimens, where three times more clonal cases were detected with IG-NGS (9 cases) compared to BIOMED-2 (3 cases). In total, almost four times more clonal rearrangements were detected in FFPE with IG-NGS (N = 23) as compared to BIOMED-2/EuroClonality (N = 6) as judged on identical IGH and IGK targets. The same clonal rearrangements were also identified in paired fresh frozen cHL samples. To validate the neoplastic origin of the detected clonotypes, IG-NGS clonality analysis was performed on isolated HRS cells, demonstrating identical clonotypes as detected in cHL whole-tissue specimens. Interestingly, IG-NGS and HRS single-cell analysis after DEPArray™ digital sorting revealed rearrangement patterns and copy number variation profiles indicating clonal diversity and intratumoral heterogeneity in cHL. Our data demonstrate improved performance of NGS-based detection of IG gene rearrangements in cHL whole-tissue specimens, providing a sensitive molecular diagnostic assay for clonality assessment in Hodgkin lymphoma.
(© 2021. The Author(s).)
التعليقات: Erratum in: Mod Pathol. 2021 Dec 15;:. (PMID: 34912039)
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المشرفين على المادة: 0 (Immunoglobulin Heavy Chains)
0 (Immunoglobulin kappa-Chains)
تواريخ الأحداث: Date Created: 20211204 Date Completed: 20220609 Latest Revision: 20230210
رمز التحديث: 20230210
مُعرف محوري في PubMed: PMC9174053
DOI: 10.1038/s41379-021-00983-8
PMID: 34862451
قاعدة البيانات: MEDLINE
الوصف
تدمد:1530-0285
DOI:10.1038/s41379-021-00983-8