Primary bone lymphoma is now a well-described entity in the World Health Organization (WHO) Classification of Tumors of Soft Tissue and Bone as a malignancy of the lymphoid tissue, with at least one mass within bone, without involvement of supraregional lymph nodes or other extranodal sites. In the current paper, we describe the complete characterization of the mutational landscape of a diffuse large B cell non-Hodgkin's lymphoma (DLBLCL) of the tibial plateau. Currently, there is very little data about the genetic landscape of primary osseous lymphomas and about the genetic background of this type of malignancy, resistant to chemotherapy and invading the surrounding tissues. In the current paper, we describe the complete characterization of the mutational landscape of a DLBCL of the tibial plateau. Our data is consistent with already published data, that have shown that MKI67 activation is correlated with lymphoma progression. Along with a high Ki67 index, resistance to chemotherapy occurs with neurogenic locus notch homolog protein 1 (Notch) and KRAS activation. This is the first molecular characterization for the invasion by anatomical contiguity for a primary bone lymphoma and while we only characterized one case and further deep sequencing analyses are required, we can explain the clinical dismal evolution of the patient by correlating them with the genetic landscape of this type of lymphoma.

中文翻译：

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在新生骨性弥漫性大B细胞淋巴瘤中，基于解剖学连续性的侵袭的基于下一代测序的表征。恶性肿瘤的遗传特征与患者临床结果之间的相关性。

原发性骨淋巴瘤现已成为世界卫生组织（WHO）的软组织和骨肿瘤分类中被充分描述的实体，是淋巴组织的恶性肿瘤，骨内至少有一个肿块，而无区域上淋巴结或其他结外部位。在当前的论文中，我们描述了胫骨平台弥漫性大B细胞非霍奇金淋巴瘤（DLBLCL）的突变景观的完整特征。目前，关于原发性骨性淋巴瘤的遗传状况以及这种类型的恶性肿瘤的遗传背景的数据很少，这些恶性肿瘤对化学疗法具有抗性并侵入周围组织。在当前的论文中，我们描述了胫骨平台DLBCL突变态的完整特征。我们的数据与已经发表的数据一致，表明MKI67激活与淋巴瘤进展相关。伴随着高的Ki67指数，对神经源性基因位点缺口同源蛋白1（Notch）和KRAS激活产生了化学耐药性。这是对原发性骨淋巴瘤进行解剖学连续性侵袭的第一个分子表征，尽管我们仅对一个病例进行了特征描述，并且需要进一步的深度测序分析，但我们可以通过将患者与恶性肿瘤的遗传图谱相关联来解释患者的临床不良进展。这种类型的淋巴瘤。