دورية أكاديمية
أعرض في EDS

Liquid biopsy-based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results.

التفاصيل البيبلوغرافية
العنوان: Liquid biopsy-based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results.
المؤلفون: Mata DA; Foundation Medicine, Inc., Cambridge, MA, USA., Lee JK; Foundation Medicine, Inc., Cambridge, MA, USA., Shanmugam V; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Marcus CB; Foundation Medicine, Inc., Cambridge, MA, USA., Schrock AB; Foundation Medicine, Inc., Cambridge, MA, USA., Williams EA; Foundation Medicine, Inc., Cambridge, MA, USA.; Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, Miami, FL, USA., Ritterhouse LL; Foundation Medicine, Inc., Cambridge, MA, USA., Hickman RA; Foundation Medicine, Inc., Cambridge, MA, USA., Janovitz T; Foundation Medicine, Inc., Cambridge, MA, USA., Patel NR; Foundation Medicine, Inc., Morrisville, NC, USA., Kroger BR; Division of Hematology/Oncology, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX, USA., Ross JS; Foundation Medicine, Inc., Cambridge, MA, USA.; Departments of Pathology, Urology, and Medicine (Oncology), State University of New York Upstate Medical University, Syracuse, New York, USA., Mirza KM; Department of Pathology, Michigan Medicine, Ann Arbor, MI, USA., Oxnard GR; Foundation Medicine, Inc., Cambridge, MA, USA., Vergilio JA; Foundation Medicine, Inc., Cambridge, MA, USA., Elvin JA; Foundation Medicine, Inc., Cambridge, MA, USA., Benhamida JK; Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Decker B; Foundation Medicine, Inc., Cambridge, MA, USA., Xu ML; Department of Pathology, Yale New-Haven Hospital, Yale School of Medicine, New Haven, CT, USA.
المصدر: Histopathology [Histopathology] 2024 Jun; Vol. 84 (7), pp. 1224-1237. Date of Electronic Publication: 2024 Feb 29.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 7704136 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1365-2559 (Electronic) Linking ISSN: 03090167 NLM ISO Abbreviation: Histopathology Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Oxford, Blackwell Scientific Publications.
مواضيع طبية MeSH: Circulating Tumor DNA*/genetics , Circulating Tumor DNA*/blood , Circulating Tumor DNA*/analysis , High-Throughput Nucleotide Sequencing* , Biomarkers, Tumor*/genetics, Humans ; Liquid Biopsy ; Male ; Middle Aged ; Female ; Aged ; Adult ; Mutation ; Hematologic Neoplasms/genetics ; Hematologic Neoplasms/pathology ; Hematologic Neoplasms/diagnosis ; Nucleophosmin ; Myeloproliferative Disorders/genetics ; Myeloproliferative Disorders/diagnosis ; Myeloproliferative Disorders/pathology ; Myeloproliferative Disorders/blood
مستخلص: Aims: Liquid biopsy (LBx)-based next-generation sequencing (NGS) of circulating tumour DNA (ctDNA) can facilitate molecular profiling of haematopoietic neoplasms (HNs), particularly when tissue-based NGS is infeasible.
Methods and Results: We studied HN LBx samples tested with FoundationOne Liquid CDx, FoundationOne Liquid, or FoundationACT between July 2016 and March 2022. We identified 271 samples: 89 non-Hodgkin lymphoma (NHL), 43 plasma-cell neoplasm (PCN), 41 histiocytoses, 27 myelodysplastic syndrome (MDS), 25 diffuse large B-cell lymphoma (DLBCL), 22 myeloproliferative neoplasm (MPN), 14 Hodgkin lymphoma (HL), and 10 acute myeloid leukaemia (AML). Among 73.4% with detectable pathogenic alterations, median maximum somatic allele frequency (MSAF) was 16.6%, with AML (36.2%), MDS (19.7%), and MPN (44.5%) having higher MSAFs than DLBCL (3.9%), NHL (8.4%), HL (1.5%), PCN (2.8%), and histiocytoses (1.8%) (P = 0.001). LBx detected characteristic alterations across HNs, including in TP53, KRAS, MYD88, and BTK in NHLs; TP53, KRAS, NRAS, and BRAF in PCNs; IGH in DLBCL; TP53, ATM, and PDCD1LG2 in HL; BRAF and MAP2K1 in histiocytoses; TP53, SF3B1, DNMT3A, TET2, and ASXL1 in MDS; JAK2 in MPNs; and FLT3, IDH2, and NPM1 in AML. Among 24 samples, the positive percent agreement by LBx was 75.7% for variants present in paired buffy coat, marrow, or tissues. Also, 75.0% of pairs exhibited alterations only present on LBx. These were predominantly subclonal (clonal fraction of 3.8%), reflecting the analytical sensitivity of LBx.
Conclusion: These data demonstrate that LBx can detect relevant genomic alterations across HNs, including at low clonal fractions, suggesting a potential clinical utility for identifying residual or emerging therapy-resistant clones that may be undetectable in site-specific tissue biopsies.
(© 2024 John Wiley & Sons Ltd.)
References: Ramkissoon LA, Montgomery ND. Applications of next‐generation sequencing in hematologic malignancies. Hum. Immunol. 2021; 82; 859–870.
Buedts L, Vandenberghe P. Circulating cell‐free DNA in hematological malignancies. Haematologica 2016; 101; 997–999.
Tan X, Yan H, Chen L, Zhang Y, Sun C. Clinical value of ctDNA in hematological malignancies (lymphomas, multiple myeloma, myelodysplastic syndrome, and leukemia): a meta‐analysis. Front. Oncol. 2021; 4; 632910.
Bettegowda C, Sausen M, Leary RJ et al. Detection of circulating tumor DNA in early‐ and late‐stage human malignancies. Sci. Transl. Med. 2014; 6; 224ra24.
Elm E, Altman DG, Egger M et al. The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies. Lancet 2007; 370; 1453–1457.
Clark TA, Chung JH, Kennedy M et al. Analytical validation of a hybrid capture‐based next‐generation sequencing clinical assay for genomic profiling of cell‐free circulating tumor DNA. J. Mol. Diagn. 2018; 20; 686–702.
Woodhouse R, Li M, Hughes J et al. Clinical and analytical validation of FoundationOne liquid CDx, a novel 324‐gene cfDNA‐based comprehensive genomic profiling assay for cancers of solid tumor origin. PLoS ONE 2020; 15; e0237802.
Frampton GM, Fichtenholtz A, Otto GA et al. Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing. Nat. Biotechnol. 2013; 31; 1023–1031.
Mata DA, Rotenstein LS, Ramos MA, Jena AB. Disparities according to genetic ancestry in the use of precision oncology assays. N. Engl. J. Med. 2023; 388; 281–283.
He J, Abdel‐Wahab O, Nahas MK et al. Integrated genomic DNA/RNA profiling of hematologic malignancies in the clinical setting. Blood 2016; 127; 3004–3014.
Center for Devices and Radiological Health. Statistical guidance on reporting results from studies evaluating diagnostic tests—guidance for industry and FDA staff [Internet]. Silver Spring, Maryland: U.S. Food and Drug Administration, 2007 Updated 16 January 2024. Available at: https://www.fda.gov/regulatory‐information/search‐fda‐guidance‐documents/statistical‐guidance‐reporting‐results‐studies‐evaluating‐diagnostic‐tests‐guidance‐industry‐and‐fda.
Riedlinger G, Hadigol M, Khiabanian H, Ganesan S. Association of JAK2‐V617F mutations detected by solid tumor sequencing with coexistent myeloproliferative neoplasms. JAMA Oncol. 2019; 5; 265–267.
Kambhampati S, Zain J. Circulating tumor DNA in lymphoma. Curr. Hematol. Malig. Rep. 2022; 17; 298–305.
Scherer F, Kurtz DM, Newman AM et al. Distinct biological subtypes and patterns of genome evolution in lymphoma revealed by circulating tumor DNA. Sci. Transl. Med. 2016; 8; 364ra155.
Kurtz DM, Green MR, Bratman SV et al. Noninvasive monitoring of diffuse large B‐cell lymphoma by immunoglobulin high‐throughput sequencing. Blood 2015; 125; 3679–3687.
Roschewski M, Dunleavy K, Pittaluga S et al. Circulating tumour DNA and CT monitoring in patients with untreated diffuse large B‐cell lymphoma: a correlative biomarker study. Lancet Oncol 2015; 16; 541–549.
Shah AT, Azad TD, Breese MR et al. A comprehensive circulating tumor DNA assay for detection of translocation and copy‐number changes in pediatric sarcomas. Mol. Cancer Ther. 2021; 20; 2016–2025.
Dubois S, Viailly PJ, Mareschal S et al. Next‐generation sequencing in diffuse large B‐cell lymphoma highlights molecular divergence and therapeutic opportunities: a LYSA study. Clin. Cancer Res. 2016; 22; 2919–2928.
Cherng HJJ, Alig SK, Oki Y et al. A phase 1/2 study of lenalidomide and obinutuzumab with CHOP for newly diagnosed DLBCL. Blood Adv. 2023; 7; 1137–1145.
Bohers E, Viailly PJ, Becker S et al. Non‐invasive monitoring of diffuse large B‐cell lymphoma by cell‐free DNA high‐throughput targeted sequencing: analysis of a prospective cohort. Blood Cancer J. 2018; 8; 74.
Gouton E, Malissen N, André N et al. Clinical impact of high throughput sequencing on liquid biopsy in advanced solid cancer. Curr. Oncol. 2022; 29; 1902–1918.
Cahn F, Revon‐Riviere G, Min V et al. Blood‐derived liquid biopsies using foundation one liquid CDx for children and adolescents with high‐risk malignancies: a monocentric experience. Cancers (Basel) 2022; 14; 2774.
فهرسة مساهمة: Keywords: haematopathology; liquid biopsy; next‐generation sequencing
المشرفين على المادة: 0 (Circulating Tumor DNA)
0 (Biomarkers, Tumor)
117896-08-9 (Nucleophosmin)
تواريخ الأحداث: Date Created: 20240229 Date Completed: 20240424 Latest Revision: 20240424
رمز التحديث: 20240425
DOI: 10.1111/his.15168
PMID: 38422618
قاعدة البيانات: MEDLINE
الوصف
تدمد:1365-2559
DOI:10.1111/his.15168