Clinical Genomics Facility, University of Pittsburgh, Pittsburgh, PA, USA.
Diagn Pathol. 2010 Jan 13;5:3. doi: 10.1186/1746-1596-5-3.
Carcinomas of unknown primary (CUP) represent approximately 3%-5% of malignant neoplasms. Identifying the tissue of origin (TOO) in these tumors allows for more specific treatment and improves outcomes. However, primary classification remains a challenge in many cases. We evaluated the ability of a microarray-based gene expression test to identify the TOO in tumor specimens from 21 patients with a diagnosis of CUP.
The Pathwork TOO Test was used to measure gene expression patterns for 1550 genes; these were compared for similarity to patterns from 15 known tissue types.
The TOO Test yielded a clear single positive call for the primary site in 16 of 21 (76%) specimens and was indeterminate in 5 (24%). The positive results were consistent with clinicopathologic suggestions in 10 of the 16 cases (62%). In the remaining six cases the positive results were considered plausible based on clinical information. Positive calls included colorectal (5), breast (4), ovarian (3), lung (2), and pancreas (2). The TOO Test ruled out an average of 11 primary tissues in each CUP specimen.
The Pathwork TOO Test reduced diagnostic uncertainty in all CUP cases and could be a valuable addition or alternative to current diagnostic methods for classifying uncertain primary cancers.
不明原发癌（CUP）约占恶性肿瘤的 3%-5%。在这些肿瘤中确定组织起源（TOO）有助于更具针对性的治疗并改善预后。然而，在许多情况下，原发性分类仍然具有挑战性。我们评估了基于微阵列的基因表达测试在 21 例诊断为 CUP 的肿瘤标本中确定 TOO 的能力。
使用 Pathwork TOO 测试测量 1550 个基因的基因表达模式；将这些模式与 15 种已知组织类型的模式进行比较。
在 21 份标本中的 16 份（76%）中，TOO 测试明确给出了单一的阳性原发部位信号，5 份（24%）为不确定结果。阳性结果与 16 例中的 10 例（62%）的临床病理提示一致。在其余 6 例中，阳性结果基于临床信息被认为是合理的。阳性结果包括结直肠（5 例）、乳腺（4 例）、卵巢（3 例）、肺（2 例）和胰腺（2 例）。TOO 测试排除了每个 CUP 标本中平均 11 种原发性组织。
Pathwork TOO 测试降低了所有 CUP 病例的诊断不确定性，并且可能是当前分类不确定原发性癌症的诊断方法的有价值的补充或替代方法。
