Carregant...
Tipus de document
ArticleVersió
Versió publicadaData de publicació
Llicència de publicació
Si us plau utilitzeu sempre aquest identificador per citar o enllaçar aquest document: https://hdl.handle.net/2445/199342
The molecular hallmarks of primary and secondary vitreoretinal lymphoma
Títol de la revista
Director/Tutor
ISSN de la revista
Títol del volum
Recurs relacionat
Resum
Vitreoretinal lymphoma (VRL) is a rare subtype of diffuse large B-cell lymphoma (DLBCL) considered a variant of primary central nervous system lymphoma (PCNSL). Diagnosis of VRL requires examination of vitreous fluid, but cytologic differentiation from uveitis remains difficult. Due to its rarity and difficulty in obtaining diagnostic material, little is known about the genetic profile of VRL. The aim of our study was to investigate the mutational profile of a large series of primary and secondary VRL. Targeted next generation sequencing using a custom panel containing the most frequent mutations in PCNSL was performed on 34 vitrectomy samples of 31 patients with VRL and negative controls with uveitis. In a subset of cases, genome-wide copy number alterations (CNA) were assessed using the Oncoscan platform. Mutations in MYD88 (74%), PIM1 (71%), CD79B (55%), IGLL5 (52%), TBL1XR1 (48%), ETV6 (45%) and 9p21/CDKN2A deletions (85%) were the most common alterations, with similar frequencies in primary (15), synchronous (3) or secondary (13) VRL. This mutational spectrum is similar to MYD88mut/CD79Bmut (MCD or cluster 5) DLBCL with activation of Toll-like and B-cell receptor pathways and CDKN2A loss, confirming their close relationship. Oncoscan analysis demonstrated a high number of CNAs (mean 18.6/case). Negative controls lacked mutations or CNAs. Using cell free DNA of vitreous fluid supernatant, mutations present in cellular DNA were reliably detected in all examined cases. Mutational analysis is a highly sensitive and specific tool for the diagnosis of VRL and can also be applied successfully to cell free DNA derived from the vitreous.Copyright © 2021 American Society of Hematology.
Matèries (anglès)
Citació
Citació
BONZHEIM, Irina, SANDER, Philip, SALMERÓN VILLALOBOS, Julia, SÜSSKIND, Daniela, SZURMAN, Peter, GEKELER, Florian, SPITZER, Martin s., STEINHILBER, Julia, KOHLER, Esther, BÜSSGEN, Melanie, SCHITTENHELM, Jens, SALAVERRIA FRIGOLA, Itziar, CAMPO GÜERRI, Elias, COUPLAND, Sarah e., QUINTANILLA MARTINEZ, Leticia, FEND, Falko. The molecular hallmarks of primary and secondary vitreoretinal lymphoma. _Blood Advances_. 2022. Vol. 6, núm. 5, pàgs. 1598-1607. [consulta: 20 de gener de 2026]. ISSN: 2473-9537. [Disponible a: https://hdl.handle.net/2445/199342]