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Deletion 20q12 is associated with histological transformation of nodal marginal zone lymphoma to diffuse large B-cell lymphoma.

缺失 20q12 与淋巴结边缘区淋巴瘤向弥漫大B细胞淋巴瘤的组织学转化相关。

  • 影响因子:3.45
  • DOI:10.1002/ajh.25694
  • 作者列表:"Qian L","Soderquist C","Schrank-Hacker A","Strauser H","Dupoux V","Tang CN","Smith JR","Sun A","Majumdar S","Nguyen T","Widura S","Landsburg DJ","Schuster SJ","Baxter RHG","Bogusz AM
  • 发表时间:2020-03-01
Abstract

:The genetic and molecular abnormalities underlying histological transformation (HT) of nodal marginal zone lymphoma (NMZL) to diffuse large B-cell lymphoma (DLBCL) are not well known. While del(20q12) is commonly deleted in myelodysplastic syndrome it has not previously been associated with DLBCL. We recently described a case of DLBCL harboring del(20q12) in a patient with a history of MZL involving lymph nodes and skin. Here we report eight matched cases of transformed MZL(tMZL): six from nodal MZL (tNMZL) and two from splenic MZL (tSMZL). We found >20% del(20q12) in 4/6 tNMZL, but not in tSMZL, nor in unmatched DLBCL, MZL with increased large cells (MZL-ILC), or MZL cases. To examine whether transformation is associated with a specific gene signature, the matched cases were analyzed for multiplexed gene expression using the Nanostring PanCancer Pathways panel. The differential gene expression signature revealed enrichment of inflammatory markers, as previously observed in MZL. Also, tMZL and de novo DLBCL were enriched for extracellular matrix proteins such as collagen and fibronectin, vascular development protein PDGFRβ, DNA repair protein RAD51, and oncogenic secrete protein Wnt11. A subset of genes is expressed differentially in del(20q12) tMZL cases vs non-del(20q12) tMZL cases. These results suggest a specific pathway is involved in the histological transformation of NMZL, which could serve as an indicator of aggressive clinical course in this otherwise indolent neoplasm.

摘要

: 淋巴结边缘区淋巴瘤 (NMZL) 向弥漫性大B细胞淋巴瘤 (DLBCL) 组织学转化 (HT) 的遗传和分子异常尚不清楚。虽然del(20q12) 在骨髓增生异常综合征中常见缺失,但以前与DLBCL无关。我们最近描述了一例DLBCL携带del(20q12) 的病例,患者有MZL累及淋巴结和皮肤的病史。这里我们报道了 8 例转化MZL(tMZL) 的匹配病例: 6 例来自淋巴结MZL (tNMZL),2 例来自脾脏MZL (tSMZL)。我们在 20% tNMZL中发现> 4/6 del(20q12),但在tSMZL中没有,在不匹配的DLBCL、大细胞增多的MZL (MZL-ILC) 或MZL病例中也没有发现。为了检查转化是否与特定的基因特征相关,使用Nanostring pancer Pathways panel分析匹配的病例的多重基因表达。差异基因表达标记揭示了炎症标志物的富集,如以前在MZL中观察到的。此外,tMZL和de novo DLBCL富含细胞外基质蛋白,如胶原和纤维连接蛋白、血管发育蛋白pdgfr β 、DNA修复蛋白RAD51 和致癌分泌蛋白wnt11。一个基因子集在del(20q12) tMZL病例与非del(20q12) tMZL病例中差异表达。这些结果表明一个特定的途径参与了NMZL的组织学转化,这可能作为这种惰性肿瘤侵袭性临床过程的指标。

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皮肤肿瘤方向

皮肤肿瘤是发生在皮肤的细胞增生性疾病,是一种常见病。发生于皮内或皮下组织的新生物,种类很多,临床上分良性肿瘤和恶性肿瘤。恶性肿瘤可以不断增殖,引起转移,威胁生命,称为皮肤癌。

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