文章：

免疫球蛋白基因重排IGHV3-48是滤泡性淋巴瘤向侵袭性淋巴瘤组织学转化的预测标志物

Immunoglobulin gene rearrangement IGHV3-48 is a predictive marker of histological transformation into aggressive lymphoma in follicular lymphomas

原文发布日期：2019-06-17

DOI: 10.1038/s41408-019-0213-9

类型: Article

开放获取: 是

英文摘要：

Follicular lymphoma (FL) is a heterogeneous disease whose pathogenesis remains partially unknown. Around 20% of FL patients experience early progression or treatment-refractory disease and 2–3% of patients per year experience histological transformation (HT) into a more aggressive lymphoma (tFL). Here, we evaluate the immunoglobulin heavy chain variable (IGHV) gene usage and mutational status in 187 FL cases to assess its impact on clinical outcome and histological transformation. The IGHV gene repertoire was remarkably biased in FL. The IGHV4-34 (14%), IGHV3-23 (14%), IGHV3-48 (10%), IGHV3-30 (9%) and IGHV3-21 (7%) genes accounted for more than half of the whole cohort. IGHV3-48 was overrepresented in cases of tFL (19%) compared with non-transformed FL at 5 years (5%, P = 0.05). Patients with the IGHV3-48 gene were significantly more likely to have had HT after 10 years than those who used other genes (71% vs. 25%, P < 0.05), irrespective of the therapy they received. Moreover, IGHV3-30 was also overrepresented in cases of FL (9%) and tFL (13%) compared with diffuse large B-cell lymphoma in which it was nearly absent. In conclusion, our results indicate a role for antigen selection in the development of FL, while the use of IGHV3-48 could help predict histological transformation.
 

摘要翻译： 

滤泡性淋巴瘤（FL）是一种异质性疾病，其发病机制仍部分未知。大约20%的FL患者经历早期进展或治疗耐药疾病，每年有2-3%的患者经历组织学转化（HT）为更侵袭性的淋巴瘤（tFL）。在此，我们评估了187例FL病例的免疫球蛋白重链可变区（IGHV）基因使用和突变状态，以评估其对临床结果和组织学转化的影响。IGHV基因库在FL中明显偏向。IGHV4-34（14%）、IGHV3-23（14%）、IGHV3-48（10%）、IGHV3-30（9%）和IGHV3-21（7%）基因占整个队列的一半以上。与非转化FL在5年时（5%）相比，IGHV3-48在tFL病例中过度代表（19%，P=0.05）。使用IGHV3-48基因的患者在10年后发生HT的可能性显著高于使用其他基因的患者（71% vs. 25%，P<0.05），无论他们接受的治疗如何。此外，与弥漫大B细胞淋巴瘤（其中几乎不存在）相比，IGHV3-30在FL（9%）和tFL（13%）病例中也过度代表。总之，我们的结果表明抗原选择在FL发展中起作用，而IGHV3-48的使用可能有助于预测组织学转化。

原文链接：

Immunoglobulin gene rearrangement IGHV3-48 is a predictive marker of histological transformation into aggressive lymphoma in follicular lymphomas