The Genetic Profile of Large B-Cell Lymphomas Presenting in the Ocular Adnexa

Author:

Vest Stine Dahl12ORCID,Eriksen Patrick Rene Gerhard3ORCID,de Groot Fleur A.4ORCID,de Groen Ruben A. L.4ORCID,Kleij Anne H. R.4ORCID,Kirkegaard Marina Knudsen1,Kamper Peter5,Rasmussen Peter Kristian2ORCID,von Buchwald Christian3ORCID,de Nully Brown Peter6,Kiilgaard Jens Folke2ORCID,Vermaat Joost S. P.4ORCID,Heegaard Steffen12ORCID

Affiliation:

1. Department of Pathology, Copenhagen University Hospital—Rigshospitalet, 2100 Copenhagen, Denmark

2. Department of Ophthalmology, Copenhagen University Hospital—Rigshospitalet, 2100 Copenhagen, Denmark

3. Department of Otorhinolaryngology, Head and Neck Surgery and Audiology, Copenhagen University Hospital—Rigshospitalet, 2100 Copenhagen, Denmark

4. Department of Hematology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands

5. Department of Hematology, Aarhus University Hospital, 8200 Aarhus, Denmark

6. Department of Hematology, Copenhagen University Hospital—Rigshospitalet, 2100 Copenhagen, Denmark

Abstract

To provide insights into targetable oncogenic pathways, this retrospective cohort study investigated the genetic profile of 26 patients with diffuse large B-cell lymphoma, not otherwise specified (DLBCL-NOS), and two patients with high-grade B-cell lymphoma with MYC and BCL2 rearrangements (HGBCL) presenting in the ocular adnexa. Pathogenic variants and copy number variations in 128 B-cell lymphoma-relevant genes were analyzed by targeted next-generation sequencing. Genetic subtypes were determined with the LymphGen algorithm. Primary ocular adnexal DLBCL-NOS constituted 50% (n = 14) and was generally characterized by non-germinal center B-cell origin (non-GCB) (n = 8, 57%), and LymphGen MCD subtype (n = 5, 36%). Primary ocular adnexal DLBCL-NOS presented pathogenic variants in genes involved in NF-κB activation and genes which are recurrently mutated in other extranodal lymphomas of non-GCB origin, including MYD88 (n = 4, 29%), CD79B (n = 3, 21%), PIM1 (n = 3, 21%), and TBL1XR1 (n = 3, 21%). Relapsed DLBCL-NOS presenting in the ocular adnexa (n = 6) were all of non-GCB origin and frequently of MCD subtype (n = 3, 50%), presenting with a similar genetic profile as primary ocular adnexal DLBCL-NOS. These results provide valuable insights into genetic drivers in ocular adnexal DLBCL-NOS, offering potential applications in future precision medicine.

Funder

Sight Denmark

Synoptik Fonden

Candys Foundation

Fabrikant Einar Willumsens Mindelegat

Frøken Amalie Jørgensens Mindelegat

Torben og Alice Frimodts Fond

Frimodt-Heineke Fonden

Else og Mogens Wedell-Wedellsborgs Fond

Publisher

MDPI AG

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