睾丸大 B 细胞淋巴瘤与 PCNSL 基因相似，但与结节性 DLBCL 不同。
Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL.
发表日期：2024 Oct
作者：
Alfredo Rivas-Delgado, Cristina López, Guillem Clot, Ferran Nadeu, Marta Grau, Gerard Frigola, Jan Bosch-Schips, Josefine Radke, Naveed Ishaque, Miguel Alcoceba, Gustavo Tapia, Luis Luizaga, Carmen Barcena, Nicholas Kelleher, Neus Villamor, Tycho Baumann, Ana Muntañola, Juan M Sancho-Cia, Alejandro M García-Sancho, Eva Gonzalez-Barca, Estella Matutes, Jordi A Brito, Kennosuke Karube, Itziar Salaverria, Anna Enjuanes, Stefan Wiemann, Frank L Heppner, Reiner Siebert, Fina Climent, Elías Campo, Eva Giné, Armando López-Guillermo, Silvia Beà
来源：
HemaSphere
摘要：
睾丸大 B 细胞淋巴瘤 (TLBCL) 是一种罕见的侵袭性淋巴瘤，发生于免疫豁免部位，最近被认为是与弥漫性大 B 细胞淋巴瘤 (DLBCL) 不同的实体。我们描述了 TLBCL 的遗传特征，并将其与已发表的一系列淋巴结性 DLBCL 和中枢神经系统原发性大 B 细胞淋巴瘤 (PCNSL) 进行比较。我们收集了 61 名 TLBCL 患者。我们利用现有材料进行了靶向下一代测序、拷贝数阵列和荧光原位杂交，以评估 40 个病例的染色体重排。百分之七十的病例呈现局部阶段。 36% 的病例检测到 BCL6 重排，未发现伴随的 BCL2 和 MYC 重排。与结节性 DLBCL 相比，TLBCL 的拷贝数改变较少 (p<0.04)，但体细胞变异较多 (p<0.02)，且 18q21.32-q23 (BCL2) 增加以及 6q 和 9p21.3 (CDKN2A/B) 缺失更频繁。 PIM1、MYD88 L265P、CD79B、TBL1XR1、MEF2B、CIITA、EP300 和 ETV6 突变在 TLBCL 中更常见，而 BCL10 突变在结节 DLBCL 中更常见。 TLBCL 和 PCNSL 之间没有重大遗传差异。局部或播散性 TLBCL 显示出相似的基因组图谱。使用 LymphGen，大多数病例被归类为 MCD。然而，我们观察到局部和播散性 TLBCL 中被归类为 BN2 的患者亚组，表明 TLBCL 遗传谱存在一定程度的遗传异质性。 TLBCL 具有与 PCNSL 相似的独特遗传特征，支持其被视为与 DLBCL 不同的实体，并可能提供信息来设计针对性的治疗方法。© 2024 作者。约翰·威利 (John Wiley) 出版的 HemaSphere
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 L265P , 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.© 2024 The Author(s). HemaSphere published by John Wiley & Sons Ltd on behalf of European Hematology Association.