Real-life targeted next-generation sequencing for lymphoma diagnosis over 1 year from the French Lymphoma Network.
diagnosis
lymphoma
molecular biology
next-generation sequencing
pathology
Journal
British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544
Informations de publication
Date de publication:
06 2021
06 2021
Historique:
revised:
05
02
2021
received:
08
12
2020
accepted:
16
02
2021
pubmed:
26
3
2021
medline:
28
9
2021
entrez:
25
3
2021
Statut:
ppublish
Résumé
As the impact of targeted next-generation sequencing (TNGS) on daily diagnosis has not been evaluated, we performed TNGS (46 genes) on lymphomas of unclear subtype following expert haematopathological review. The potential impact on patient care and modifications of final diagnosis were divided into major and minor changes according to the European Society of Medical Oncology (ESMO) guidelines. Among 229 patients [19 primary central nervous system lymphomas (PCNSL), 48 large B-cell lymphomas (LBCLs), 89 small BCLs (SBCLs), seven Hodgkin lymphomas (HL), 66 T-cell lymphomas], the overall concordance rate of histological and TNGS diagnosis was 89·5%. TNGS confirmed the histological diagnosis in 144 cases (62·9%), changed the diagnosis in 24 cases (10·5%) and did not help to clarify diagnosis in 61 cases (26·7%). Modifications to the final diagnosis had a clinical impact on patient care in 8·3% of cases. Diagnostic modifications occurred in all types of lymphoma except in PCNSL and HL; the modification rate was 14·6% in SBCL and 12·5% in LBCL. While comparing informative and uninformative cases, no differences were found in terms of DNA amplification, quality or depth of sequencing and biopsy type. The present study highlights that TNGS may directly contribute to a more accurate diagnosis in difficult-to-diagnose lymphomas, thus improving the clinical management in routine practice.
Types de publication
Journal Article
Multicenter Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
1110-1122Informations de copyright
© 2021 British Society for Haematology and John Wiley & Sons Ltd.
Références
Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R, et al. The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood. 2016;127:2375-90.
Sakata-Yanagimoto M, Enami T, Yoshida K, Shiraishi Y, Ishii R, Miyake Y, et al. Somatic RHOA mutation in angioimmunoblastic T cell lymphoma. Nat Genet. 2014;46:171-5.
Broccoli A, Zinzani PL. Angioimmunoblastic T-Cell Lymphoma. Hematol Oncol Clin North Am. 2017;31(2):223-38.
Cairns RA, Iqbal J, Lemonnier F, Kucuk C, de Leval L, Jais JP, et al. IDH2 mutations are frequent in angioimmunoblastic T-cell lymphoma. Blood. 2012;119:1901-3.
Lemonnier F, Mak TW. Angioimmunoblastic T-cell lymphoma: more than a disease of T follicular helper cells. J Pathol. 2017;242:387-90.
Schwartz FH, Cai Q, Fellmann E, Hartmann S, Mäyränpää MI, Karjalainen-Lindsberg M-L, et al. TET2 mutations in B cells of patients affected by angioimmunoblastic T-cell lymphoma. J Pathol. 2017;242:129-33.
Odejide O, Weigert O, Lane AA, Toscano D, Lunning MA, Kopp N, et al. A targeted mutational landscape of angioimmunoblastic T-cell lymphoma. Blood. 2014;123:1293-6.
de Leval L, Parrens M, Le Bras F, Jais JP, Fataccioli V, Martin A, et al. Angioimmunoblastic T-cell lymphoma is the most common T-cell lymphoma in two distinct French information data sets. Haematologica. 2015;100:e361-364.
Laurent C, Delas A, Gaulard P, Haioun C, Moreau A, Xerri L, et al. Breast implant-associated anaplastic large cell lymphoma: two distinct clinicopathological variants with different outcomes. Ann. Oncol. 2016;27:306-14.
LaCasce AS, Kho ME, Friedberg JW, Niland JC, Abel GA, Rodriguez MA, et al. Comparison of referring and final pathology for patients with non-Hodgkin’s lymphoma in the National Comprehensive Cancer Network. J Clin Oncol. 2008;26:5107-12.
Herrera AF, Crosby-Thompson A, Friedberg JW, Abel GA, Czuczman MS, Gordon LI, et al. Comparison of referring and final pathology for patients with T-cell lymphoma in the National Comprehensive Cancer Network. Cancer. 2014;120:1993-9.
Laurent C, Baron M, Amara N, Haioun C, Dandoit M, Maynadié M, et al. Impact of expert pathologic review of lymphoma diagnosis: study of patients from the French lymphopath network. J Clin Oncol. 2017;35:2008-17.
Gabert J, Beillard E, van der Velden VH, Bi W, Grimwade D, Pallisgaard N, et al. Standardization and quality control studies of ‘real-time’ quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia - a Europe Against Cancer program. Leukemia. 2003;17:2318-57.
van Dongen JJ, Langerak AW, Brüggemann M, Evans PA, Hummel M, Lavender FL, et al. Design and standardization of PCR primers and protocols for detection of clonal immunoglobulin and T-cell receptor gene recombinations in suspect lymphoproliferations: report of the BIOMED-2 Concerted Action BMH4-CT98-3936. Leukemia. 2003;17:2257-317.
Sujobert P, Le Bris Y, de Leval L, Gros A, Merlio JP, Pastoret C, et al. Definition of a minimal genes set for mature lymphoid blood diseases. Hématologie. 2018;24:27-59.
Fukumura K, Kawazu M, Kojima S, Ueno T, Sai E, Soda M, et al. Genomic characterization of primary central nervous system lymphoma. Acta Neuropathol. 2016;131:865-75.
Mareschal S, Dubois S, Viailly P-J, Bertrand P, Bohers E, Maingonnat C, et al. Whole exome sequencing of relapsed/refractory patients expands the repertoire of somatic mutations in diffuse large B-cell lymphoma. Genes Chromosomes Cancer. 2016;55:251-67.
Fukumoto K, Nguyen TB, Chiba S, Sakata-Yanagimoto M. Review of the biologic and clinical significance of genetic mutations in angioimmunoblastic T-cell lymphoma. Cancer Sci. 2018;109:490-6.
Sujobert P, Le Bris Y, de Leval L, Gros A, Merlio JP, Pastoret C, et al. The need for a consensus next-generation sequencing panel for mature lymphoid malignancies: HemaSphere. 2019;3:e169.
Jennings LJ, Arcila ME, Corless C, Kamel-Reid S, Lubin IM, Pfeifer J, et al. Guidelines for validation of next-generation sequencing-based oncology panels. J Mol Diagn. 2017;19:341-65.
Bowen JM, Perry AM, Laurini JA, Smith LM, Klinetobe K, Bast M, et al. Lymphoma diagnosis at an academic centre: Rate of revision and impact on patient care. Br J Haematol. 2014;166:202-8.
Proctor IE, McNamara C, Rodriguez-Justo M, Isaacson PG, Ramsay A. Importance of expert central review in the diagnosis of lymphoid malignancies in a regional cancer network. J Clin Oncol. 2011;29:1431-5.
Food and Drug Administration, HHS. Human subject protection; foreign clinical studies not conducted under an investigational new drug application. Final rule. Fed Regist. 2008;73:22800-16.
Slavin TP, Niell-Swiller M, Solomon I, Nehoray B, Rybak C, Blazer KR, et al. Clinical application of multigene panels: challenges of next-generation counseling and cancer risk management. Front Oncol. 2015;5:208.
Rosenquist R, Rosenwald A, Du MQ, Gaidano G, Groenen P, Wotherspoon A, et al. Clinical impact of recurrently mutated genes on lymphoma diagnostics: state-of-the-art and beyond. Haematologica. 2016;101:1002-9.
Steensma DP. Clinical consequences of clonal hematopoiesis of indeterminate potential. Blood Adv. 2018;2(22):3404-10.
Lemonnier F, Couronné L, Parrens M, Jaïs JP, Travert M, Lamant L, et al. Recurrent TET2 mutations in peripheral T-cell lymphomas correlate with TFH-like features and adverse clinical parameters. Blood. 2012;120:1466-9.
Dominguez PM, Ghamlouch H, Rosikiewicz W, Kumar P, Béguelin W, Fontán L, et al. TET2 deficiency causes germinal center hyperplasia, impairs plasma cell differentiation, and promotes B-cell lymphomagenesis. Cancer Discov. 2018;8:1632-53.
Insuasti-Beltran G, Gale JM, Wilson CS, Foucar K, Czuchlewski DR. Significance of MYD88 L265P Mutation Status in the Subclassification of Low-Grade B-Cell Lymphoma/Leukemia. Arch Pathol Lab Med. 2015;139:1035-41.
Gurth M, Bernard V, Bernd H-W, Schemme J, Thorns C. Nodal marginal zone lymphoma: mutation status analyses of CD79A, CD79B, and MYD88 reveal no specific recurrent lesions. Leukemia Lymphoma. 2017;58:979-81.
Vater I, Montesinos-Rongen M, Schlesner M, Haake A, Purschke F, Sprute R, et al. The mutational pattern of primary lymphoma of the central nervous system determined by whole-exome sequencing. Leukemia. 2015;29:677-85.
Deckert M, Montesinos-Rongen M, Brunn A, Siebert R. Systems biology of primary CNS lymphoma: from genetic aberrations to modeling in mice. Acta Neuropathol. 2014;127:175-88.