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| Pàgina inicial > Articles > Articles publicats > Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL |
(Hospital Clínic i Provincial de Barcelona) (Centro de Investigación Biomédica en Red de Cáncer) (Centro de Investigación Biomédica en Red de Cáncer) (Centro de Investigación Biomédica en Red de Cáncer) (Hospital Clínic i Provincial de Barcelona) (Hospital Universitari de Bellvitge) (Charité-Universitätsmedizin Berlin) (Centro de Investigación del Cáncer-IBMCC (USAL-CSIC)) (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) (Hospital Universitari de Girona Doctor Josep Trueta) (Hospital Clínic i Provincial de Barcelona) (Hospital 12 de Octubre (Madrid)) (Centro de Investigación del Cáncer-IBMCC (USAL-CSIC)) (Hospital Universitari de Bellvitge) (Hospital Clínic i Provincial de Barcelona) (Centro de Investigación Biomédica en Red de Cáncer) (Centro de Investigación Biomédica en Red de Cáncer) (German Cancer Consortium (DKTK). Partner Site Charité Berlin (Alemanya)) (Hospital Universitari de Bellvitge) (Hospital Clínic i Provincial de Barcelona) (Hospital Clínic i Provincial de Barcelona) (Hospital Clínic i Provincial de Barcelona)| Data: | 2024 |
| Resum: | Testicular large B-cell lymphoma (TLBCL) is an infrequent and aggressive lymphoma arising in an immune-privileged site and has recently been recognized as a distinct entity from diffuse large B-cell lymphoma (DLBCL). We describe the genetic features of TLBCL and compare them with published series of nodal DLBCL and primary large B-cell lymphomas of the CNS (PCNSL). We collected 61 patients with TLBCL. We performed targeted next-generation sequencing, copy number arrays, and fluorescent in situ hybridization to assess chromosomal rearrangements in 40 cases with available material. Seventy percent of the cases showed localized stages. BCL6 rearrangements were detected in 36% of cases, and no concomitant BCL2 and MYC rearrangements were found. TLBCL had fewer copy number alterations (p < 0. 04) but more somatic variants (p < 0. 02) than nodal DLBCL and had more frequent 18q21. 32-q23 (BCL2) gains and 6q and 9p21. 3 (CDKN2A/B) deletions. PIM1, MYD88, CD79B, TBL1XR1, MEF2B, CIITA, EP300, and ETV6 mutations were more frequent in TLBCL, and BCL10 mutations in nodal DLBCL. There were no major genetic differences between TLBCL and PCNSL. Localized or disseminated TLBCL displayed similar genomic profiles. Using LymphGen, the majority of cases were classified as MCD. However, we observed a subgroup of patients classified as BN2, both in localized and disseminated TLBCL, suggesting a degree of genetic heterogeneity in the TLBCL genetic profile. TLBCL has a distinctive genetic profile similar to PCNSL, supporting its recognition as a separate entity from DLBCL and might provide information to devise targeted therapeutic approaches. |
| Ajuts: | Instituto de Salud Carlos III PI19/00887 Instituto de Salud Carlos III PI22/00203 Instituto de Salud Carlos III PI23/01500 Agencia Estatal de Investigación PID2021-123054OB-I00 Agència de Gestió d'Ajuts Universitaris i de Recerca 2021/SGR-01293 Agència de Gestió d'Ajuts Universitaris i de Recerca 2021/SGR-01274 Agència de Gestió d'Ajuts Universitaris i de Recerca 2021/SGR-01172 |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Publicat a: | HemaSphere, Vol. 8 Núm. 10 (october 2024) , p. e70024, ISSN 2572-9241 |
