Identification of Primary Mediastinal Large B-cell Lymphoma at Nonmediastinal Sites by Gene Expression Profiling.
Identification of Primary Mediastinal Large B-cell Lymphoma at Nonmediastinal Sites by Gene Expression Profiling.
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通过基因表达分析鉴定在非中服，在非中伴部位鉴定。
DOI：
10.1097/pas.0000000000000473
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发表时间：
2015-10
期刊：
影响因子：
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通讯作者：
Lymphoma Leukemia Molecular Profiling Project (LLMPP)
中科院分区：
文献类型：
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作者：
Yuan J;Wright G;Rosenwald A;Steidl C;Gascoyne RD;Connors JM;Mottok A;Weisenburger DD;Greiner TC;Fu K;Smith L;Rimsza LM;Jaffe ES;Campo E;Martinez A;Delabie J;Braziel RM;Cook JR;Ott G;Vose JM;Staudt LM;Chan WC;Lymphoma Leukemia Molecular Profiling Project (LLMPP)
纵隔受累被认为是诊断原发性纵隔大B细胞淋巴瘤的关键。然而，我们观察到有弥漫性大B细胞淋巴瘤(DLBCL)的病例，具有PMBL的特征，但没有发现纵隔受累。我们的目标是评估我们先前建立的PMBL的基因表达谱(GEP)特征，以对这些病例进行分类。在一大系列DLBCL病例中，我们确定了24例具有PMBL GEP特征的病例，其中9例提交诊断为DLBCL符合PMBL(G-PMBL-P)，15例提交诊断为DLBCL。在9例G-PMBL-P病例中，病理检查结果与诊断一致。其他15例DLBCL中，11例为PMBL或DLBCL与PMBL一致，3例为DLBCL，1例为介于DLBCL和经典霍奇金淋巴瘤之间的灰区淋巴瘤。所有9例G-PMBL-P和15例DLBCL中的9例(G-PMBL-M)在表现时均显示纵隔受累。有趣的是，15例DLBCL中有6例(G-PMBL-NM)没有纵隔受累的临床或放射学证据。PMBL的3个亚型在其他方面的临床特征相似，总体存活率无显著差异。CIITA和PDL1/2基因改变的发生率分别为26%和40%，其中1例G-PMBL-NM患者存在PDL1/2基因突变。结论：PMBL可表现为无纵隔受累的非纵隔肿瘤，而GEP可提供更准确的诊断。
Mediastinal involvement is considered essential for the diagnosis of primary mediastinal large B-cell lymphoma (PMBL). However, we have observed cases of diffuse large B-cell lymphoma (DLBCL) with features of PMBL but without detectable mediastinal involvement. The goal was to assess our previously established gene expression profiling (GEP) signature for PMBL in classifying these cases. In a large series of DLBCL cases, we identified 24 cases with a GEP signature of PMBL, including 9 cases with a submission diagnosis of DLBCL consistent with PMBL (G-PMBL-P) and 15 cases with a submission diagnosis of DLBCL. The pathology reviewers agreed with the diagnosis in the 9 G-PMBL-P cases. Among the other 15 DLBCL cases, 11 were considered to be PMBL or DLBCL consistent with PMBL, 3 were considered to be DLBCL, and 1 case was a gray-zone lymphoma with features intermediate between DLBCL and classical Hodgkin lymphoma. All 9 G-PMBL-P and 9 of the 15 DLBCL cases (G-PMBL-M) had demonstrated mediastinal involvement at presentation. Interestingly, 6 of the 15 DLBCL cases (G-PMBL-NM) had no clinical or radiologic evidence of mediastinal involvement. The 3 subgroups of PMBL had otherwise similar clinical characteristics, and there were no significant differences in overall survival. Genetic alterations of CIITA and PDL1/2 were detected in 26% and 40% of cases, respectively, including 1 G-PMBL-NM case with gain of PDL1/2. In conclusion, PMBL can present as a nonmediastinal tumor without evidence of mediastinal involvement, and GEP offers a more precise diagnosis of PMBL.