Department of Pathology and Laboratory Medicine, University of Tennessee College of Medicine, Memphis, TN 38163, USA.
Am J Surg Pathol. 2013 Jul;37(7):1067-75. doi: 10.1097/PAS.0b013e31828309c4.
Metastatic tumors with an uncertain primary site can be a difficult clinical problem. In tens of thousands of patients every year, no confident diagnosis is ever issued, making standard-of-care treatment impossible. Gene expression profiling (GEP) tests currently available to analyze these difficult-to-diagnose tumors have never been directly compared with the diagnostic standard of care, immunochemistry (IHC). This prospectively conducted, blinded, multicenter study compares the diagnostic accuracy of GEP with IHC in identifying the primary site of 157 formalin-fixed paraffin-embedded specimens from metastatic tumors with known primaries, representing the 15 tissues on the GEP test panel. Four pathologists rendered diagnoses by selecting from 84 stains in 2 rounds. GEP was performed using the Pathwork Tissue of Origin Test. Overall, GEP accurately identified 89% of specimens, compared with 83% accuracy using IHC (P=0.013). In the subset of 33 poorly differentiated and undifferentiated carcinomas, GEP accuracy exceeded that of IHC (91% to 71%, P=0.023). In specimens for which pathologists rendered their final diagnosis with a single round of stains, both IHC and GEP exceeded 90% accuracy. However, when the diagnosis required a second round, IHC significantly underperformed GEP (67% to 83%, P<0.001). GEP has been validated as accurate in diagnosing the primary site in metastatic tumors. The Pathwork Tissue of Origin Test used in this study was significantly more accurate than IHC when used to identify the primary site, with the most pronounced superiority observed in specimens that required a second round of stains and in poorly differentiated and undifferentiated metastatic carcinomas.
原发灶不明的转移性肿瘤是一个临床难题。每年有上万名患者被诊断为疑似肿瘤,无法进行标准治疗。目前用于分析这些疑难诊断肿瘤的基因表达谱(GEP)检测,从未与免疫化学(IHC)这一标准诊断方法直接比较过。本研究为前瞻性、盲法、多中心研究,对比了 GEP 与 IHC 对 157 例已知原发灶的转移性肿瘤福尔马林固定石蜡包埋样本(代表 GEP 检测面板上的 15 种组织)原发灶的诊断准确性。4 位病理学家在 2 轮中从 84 种染色中选择进行诊断。GEP 使用 Pathwork Tissue of Origin Test 进行。总的来说,GEP 准确识别了 89%的标本,而 IHC 的准确率为 83%(P=0.013)。在 33 例低分化和未分化癌的亚组中,GEP 的准确率高于 IHC(91%对 71%,P=0.023)。对于病理学家用单轮染色做出最终诊断的标本,IHC 和 GEP 的准确率均超过 90%。然而,当诊断需要第二轮时,IHC 的表现明显逊于 GEP(67%对 83%,P<0.001)。GEP 已被验证可准确诊断转移性肿瘤的原发灶。本研究中使用的 Pathwork Tissue of Origin Test 用于识别原发灶的准确性明显优于 IHC,在需要第二轮染色的标本和低分化及未分化转移性癌中表现更为突出。
J Natl Cancer Inst. 2013-5-2
Virchows Arch. 2009-12-10
Diagn Pathol. 2010-4-26
Nat Rev Clin Oncol. 2025-8-4
Cancers (Basel). 2025-5-22
Cell Rep Methods. 2024-6-17
Int J Clin Oncol. 2024-6
Sci Rep. 2023-11-27
PLoS One. 2012-1-27
J Natl Compr Canc Netw. 2011-12
J Natl Compr Canc Netw. 2011-11